#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
CHM	1121	broad.mit.edu	37	X	85218989	85218989	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:85218989G>T	ENST00000357749.2	-	5	412	c.383C>A	c.(382-384)gCa>gAa	p.A128E	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	128					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTGGAGTTTGCAGATGTCAC	0.433																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(382-384)gCa>gAa		choroideremia (Rab escort protein 1)							69.0	61.0	64.0					X																	85218989		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218989G>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.383C>A	X.37:g.85218989G>T	ENSP00000350386:p.Ala128Glu					CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_5'UTR	p.A128E	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			5	412	-		all_lung(315;5.41e-06)	128					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.383C>A	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	0.456	-0.891600	0.02491	.	.	ENSG00000188419	ENST00000357749	T	0.55760	0.5	4.64	-2.09	0.07232	.	0.875563	0.09822	N	0.751316	T	0.27594	0.0678	N	0.17082	0.46	0.09310	N	0.999993	B	0.06786	0.001	B	0.08055	0.003	T	0.13629	-1.0502	10	0.26408	T	0.33	-13.1308	1.7975	0.03065	0.4664:0.098:0.1617:0.274	.	128	P24386	RAE1_HUMAN	E	128	ENSP00000350386:A128E	ENSP00000350386:A128E	A	-	2	0	CHM	85105645	0.000000	0.05858	0.000000	0.03702	0.444000	0.32077	-3.614000	0.00414	-0.602000	0.05775	0.284000	0.19432	GCA		0.433	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		20	65	1	0	2.4624e-09	1	2.83762e-09	20	65				
SORCS3	22986	broad.mit.edu	37	10	106737173	106737173	+	Silent	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr10:106737173G>T	ENST00000369701.3	+	4	1103	c.876G>T	c.(874-876)cgG>cgT	p.R292R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	292					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTATCGGCTCACCTTCT	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(874-876)cgG>cgT		sortilin-related VPS10 domain containing receptor 3							126.0	108.0	114.0					10																	106737173		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737173G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.876G>T	10.37:g.106737173G>T							p.R292R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	4	1103	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	292					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.876G>T	CCDS7558.1																																																																																				0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		24	37	1	0	1.10923e-09	1	1.29055e-09	24	37				
KCNQ2	3785	broad.mit.edu	37	20	62071033	62071033	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr20:62071033T>C	ENST00000359125.2	-	6	1019	c.845A>G	c.(844-846)gAc>gGc	p.D282G	KCNQ2_ENST00000357249.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000344425.5_Missense_Mutation_p.D282G|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D282G	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	282					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGGTACTTGTCCCCGTAGCC	0.642																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(844-846)gAc>gGc		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						205.0	149.0	168.0					20																	62071033		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62071033T>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.845A>G	20.37:g.62071033T>C	ENSP00000352035:p.Asp282Gly					KCNQ2_ENST00000344425.5_Missense_Mutation_p.D282G|KCNQ2_ENST00000370221.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D282G	p.D282G			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1021	-	all_cancers(38;1.24e-11)		282					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.845A>G	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472060	0.84533	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	4.01	4.01	0.46588	Ion transport (1);	0.121976	0.52532	D	0.000072	D	0.99450	0.9805	H	0.95470	3.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.991;0.997;0.993	D;D;P;P;D;D	0.85130	0.997;0.997;0.886;0.886;0.946;0.931	D	0.98404	1.0569	10	0.87932	D	0	-10.3795	13.2151	0.59854	0.0:0.0:0.0:1.0	.	282;282;282;282;282;282	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	G	282	ENSP00000349789:D282G;ENSP00000352035:D282G;ENSP00000359246:D282G;ENSP00000346601:D282G;ENSP00000352718:D282G;ENSP00000399612:D282G;ENSP00000353668:D282G;ENSP00000339611:D282G;ENSP00000359244:D282G;ENSP00000359242:D282G;ENSP00000359241:D282G;ENSP00000345523:D282G	ENSP00000345523:D282G	D	-	2	0	KCNQ2	61541477	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.035000	0.70940	1.554000	0.49487	0.459000	0.35465	GAC		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		42	51	0	0	0	1	0	42	51				
CDYL2	124359	broad.mit.edu	37	16	80667073	80667073	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr16:80667073G>A	ENST00000570137.2	-	3	832	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CDYL2_ENST00000562812.1_Missense_Mutation_p.A227V|CDYL2_ENST00000566173.1_Missense_Mutation_p.A227V|CDYL2_ENST00000563890.1_Missense_Mutation_p.A227V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	226						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTCCTTCTCCGCTTCCAGCTT	0.488																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(676-678)gCg>gTg		chromodomain protein, Y-like 2							154.0	135.0	141.0					16																	80667073		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80667073G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.677C>T	16.37:g.80667073G>A	ENSP00000476295:p.Ala226Val					CDYL2_ENST00000563890.1_Missense_Mutation_p.A227V|CDYL2_ENST00000566173.1_Missense_Mutation_p.A227V|CDYL2_ENST00000562812.1_Missense_Mutation_p.A227V	p.A226V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			3	832	-			226					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.677C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165177	0.38217	.	.	ENSG00000166446	ENST00000299564	T	0.55413	0.52	4.86	3.86	0.44501	.	0.609926	0.17067	N	0.188335	T	0.26593	0.0650	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06661	-1.0814	10	0.56958	D	0.05	.	6.7927	0.23709	0.1022:0.2494:0.6484:0.0	.	226	Q8N8U2	CDYL2_HUMAN	V	226	ENSP00000299564:A226V	ENSP00000299564:A226V	A	-	2	0	CDYL2	79224574	0.338000	0.24775	0.005000	0.12908	0.970000	0.65996	3.910000	0.56371	2.520000	0.84964	0.491000	0.48974	GCG		0.488	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		39	62	0	0	0	1	0	39	62				
LRTM2	654429	broad.mit.edu	37	12	1943730	1943730	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr12:1943730G>T	ENST00000543818.1	+	5	1798	c.956G>T	c.(955-957)gGc>gTc	p.G319V	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	319						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTCGTGTGCGGCGTCGTCTGC	0.662																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(955-957)gGc>gTc		leucine-rich repeats and transmembrane domains 2							50.0	46.0	47.0					12																	1943730		2201	4294	6495	SO:0001583	missense	654429					integral to membrane		g.chr12:1943730G>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.956G>T	12.37:g.1943730G>T	ENSP00000446278:p.Gly319Val					CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR	p.G319V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1798	+	Ovarian(42;0.107)		319					A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.956G>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397322	0.62177	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.60299	0.2;0.2;0.2	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75525	-0.3287	10	0.54805	T	0.06	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	319	Q8N967	LRTM2_HUMAN	V	319	ENSP00000446278:G319V;ENSP00000299194:G319V;ENSP00000444737:G319V	ENSP00000299194:G319V	G	+	2	0	LRTM2	1813991	1.000000	0.71417	0.321000	0.25320	0.045000	0.14185	9.869000	0.99810	2.549000	0.85964	0.655000	0.94253	GGC		0.662	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			24	43	1	0	7.33628e-21	1	9.15144e-21	24	43				
PPT1	5538	broad.mit.edu	37	1	40535481	40535481	+	IGR	SNP	T	T	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:40535481T>C	ENST00000433473.3	-	0	2740				CAP1_ENST00000372805.3_Missense_Mutation_p.S310P|CAP1_ENST00000372797.3_Missense_Mutation_p.S310P|CAP1_ENST00000372792.2_Missense_Mutation_p.S310P|CAP1_ENST00000372798.1_Missense_Mutation_p.S309P|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.S309P|CAP1_ENST00000372802.1_Missense_Mutation_p.S309P	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCAGCCCATCCCCCAAACG	0.522																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(928-930)Tcc>Ccc		CAP, adenylate cyclase-associated protein 1 (yeast)							48.0	50.0	49.0					1																	40535481		1900	4106	6006	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40535481T>C	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40535481T>C						CAP1_ENST00000372792.2_Missense_Mutation_p.S310P|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372798.1_Missense_Mutation_p.S309P|CAP1_ENST00000372802.1_Missense_Mutation_p.S309P|CAP1_ENST00000372805.3_Missense_Mutation_p.S310P|CAP1_ENST00000340450.3_Missense_Mutation_p.S309P	p.S310P	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	1489	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	310					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.928T>C	CCDS447.1	.	.	.	.	.	.	.	.	.	.	T	6.425	0.446464	0.12223	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.08984	3.04;3.03;3.04;3.03;3.03;3.04	5.59	0.411	0.16392	.	0.623392	0.17933	N	0.157107	T	0.03915	0.0110	N	0.25485	0.75	0.32475	N	0.542279	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.36114	-0.9761	10	0.09590	T	0.72	-12.6386	2.0727	0.03617	0.2342:0.075:0.2066:0.4842	.	257;310	E7ENY9;Q01518	.;CAP1_HUMAN	P	310;309;310;287;309;309;310	ENSP00000361883:S310P;ENSP00000361888:S309P;ENSP00000361878:S310P;ENSP00000361884:S309P;ENSP00000344832:S309P;ENSP00000361891:S310P	ENSP00000344832:S309P	S	+	1	0	CAP1	40308068	0.010000	0.17322	0.817000	0.32601	0.753000	0.42808	0.174000	0.16743	0.395000	0.25257	0.528000	0.53228	TCC		0.522	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		9	46	0	0	0	1	0	9	46				
APLP1	333	broad.mit.edu	37	19	36363454	36363454	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:36363454A>C	ENST00000221891.4	+	7	1112	c.920A>C	c.(919-921)cAc>cCc	p.H307P	APLP1_ENST00000586861.1_Missense_Mutation_p.H301P|APLP1_ENST00000537454.2_Missense_Mutation_p.H268P	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	307					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCAGTGAGCACGAGGGGTTC	0.577																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(919-921)cAc>cCc		amyloid beta (A4) precursor-like protein 1							147.0	143.0	144.0					19																	36363454		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363454A>C	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.920A>C	19.37:g.36363454A>C	ENSP00000221891:p.His307Pro					APLP1_ENST00000537454.2_Missense_Mutation_p.H268P|APLP1_ENST00000586861.1_Missense_Mutation_p.H301P	p.H307P	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1112	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		307					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.920A>C	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685375	0.68157	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.65732	-0.17;-0.17	4.89	3.85	0.44370	Amyloidogenic glycoprotein, E2 domain (2);	0.134562	0.33875	N	0.004476	T	0.76528	0.4000	M	0.78049	2.395	0.51767	D	0.999936	P;D;D;D	0.67145	0.956;0.996;0.994;0.995	D;D;D;D	0.81914	0.964;0.995;0.985;0.991	T	0.76697	-0.2864	10	0.66056	D	0.02	-23.8177	9.8543	0.41077	0.827:0.173:0.0:0.0	.	301;268;307;307	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	P	268;307	ENSP00000441501:H268P;ENSP00000221891:H307P	ENSP00000221891:H307P	H	+	2	0	APLP1	41055294	1.000000	0.71417	0.788000	0.31933	0.972000	0.66771	8.107000	0.89557	0.694000	0.31654	0.379000	0.24179	CAC		0.577	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		59	122	0	0	0	1	0	59	122				
PTCHD2	57540	broad.mit.edu	37	1	11561627	11561627	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:11561627A>C	ENST00000294484.6	+	2	716	c.578A>C	c.(577-579)cAa>cCa	p.Q193P	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q193P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	193					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCGCGGCTCAAAAGCCCACA	0.697																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(577-579)cAa>cCa		patched domain containing 2							12.0	15.0	14.0					1																	11561627		1920	4135	6055	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561627A>C	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.578A>C	1.37:g.11561627A>C	ENSP00000294484:p.Gln193Pro					PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q193P	p.Q193P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	716	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	193					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.578A>C	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	2.593	-0.294702	0.05568	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.22945	1.93;1.93	5.41	-4.15	0.03881	.	.	.	.	.	T	0.08670	0.0215	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30534	-0.9975	9	0.46703	T	0.11	1.6277	6.388	0.21572	0.3022:0.366:0.3318:0.0	.	193	Q9P2K9	PTHD2_HUMAN	P	193	ENSP00000294484:Q193P;ENSP00000374226:Q193P	ENSP00000294484:Q193P	Q	+	2	0	PTCHD2	11484214	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.662000	0.05305	-0.618000	0.05656	-0.466000	0.05196	CAA		0.697	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		10	11	0	0	0	1	0	10	11				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			59	33	0	0	0	1	0	59	33				
BACH1	571	broad.mit.edu	37	21	30699670	30699670	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr21:30699670G>A	ENST00000399921.1	+	3	1768	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	BACH1_ENST00000286800.3_Missense_Mutation_p.E509K	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACGGACACCGAAGGAGACAG	0.413																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(1525-1527)Gaa>Aaa		BTB and CNC homology 1, basic leucine zipper transcription factor 1							107.0	97.0	100.0					21																	30699670		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699670G>A	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1525G>A	21.37:g.30699670G>A	ENSP00000382805:p.Glu509Lys					BACH1_ENST00000286800.3_Missense_Mutation_p.E509K	p.E509K	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	1768	+			509					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.1525G>A	CCDS13585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.143939|5.143939	0.94603|0.94603	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.74947|.	-0.89;-0.89|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71656|.	0.974|.	T|T	0.68922|0.68922	-0.5281|-0.5281	10|5	0.59425|.	D|.	0.04|.	-29.8049|-29.8049	20.2019|20.2019	0.98263|0.98263	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	509|.	O14867|.	BACH1_HUMAN|.	K|Q	509|74	ENSP00000286800:E509K;ENSP00000382805:E509K|.	ENSP00000286800:E509K|.	E|R	+|+	1|2	0|0	BACH1|BACH1	29621541|29621541	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.865000|0.865000	0.49528|0.49528	9.434000|9.434000	0.97515|0.97515	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.413	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		50	90	0	0	0	1	0	50	90				
KALRN	8997	broad.mit.edu	37	3	124157746	124157746	+	Silent	SNP	C	C	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr3:124157746C>G	ENST00000240874.3	+	18	3211	c.3054C>G	c.(3052-3054)gtC>gtG	p.V1018V	KALRN_ENST00000360013.3_Silent_p.V1018V|KALRN_ENST00000460856.1_Silent_p.V1009V	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1018					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGTAGTGTCCTGGAGAGCT	0.458																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(3052-3054)gtC>gtG		kalirin, RhoGEF kinase							154.0	144.0	147.0					3																	124157746		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124157746C>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3054C>G	3.37:g.124157746C>G						KALRN_ENST00000240874.3_Silent_p.V1018V|KALRN_ENST00000460856.1_Silent_p.V1009V	p.V1018V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			18	3181	+			1018					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.3054C>G	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855399	0.17106	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.54	1.6	0.23607	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20974	-1.0259	4	.	.	.	.	2.0829	0.03639	0.1106:0.2424:0.3526:0.2945	.	.	.	.	C	987	.	.	S	+	2	0	KALRN	125640436	0.969000	0.33509	0.997000	0.53966	0.989000	0.77384	0.082000	0.14847	0.084000	0.17077	0.655000	0.94253	TCC		0.458	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		10	28	0	0	0	1	0	10	28				
CYP2A6	1548	broad.mit.edu	37	19	41354625	41354625	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:41354625G>A	ENST00000301141.5	-	3	407	c.387C>T	c.(385-387)cgC>cgT	p.R129R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	129					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CGATGGAGAAGCGCCGGAGCT	0.706																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(385-387)cgC>cgT		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						28.0	30.0	29.0					19																	41354625		2202	4299	6501	SO:0001819	synonymous_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354625G>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.387C>T	19.37:g.41354625G>A						CTC-490E21.12_ENST00000601627.1_Intron	p.R129R	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	407	-			129					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	c.387C>T	CCDS12568.1																																																																																				0.706	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		23	52	0	0	0	1	0	23	52				
LRP1B	53353	broad.mit.edu	37	2	141459290	141459290	+	Splice_Site	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr2:141459290C>A	ENST00000389484.3	-	40	7398	c.6427G>T	c.(6427-6429)Ggg>Tgg	p.G2143W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2143	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTGCTGACCTTTCTCTCTT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e40+1		low density lipoprotein receptor-related protein 1B							87.0	83.0	84.0					2																	141459290		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459290C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6427+1G>T	2.37:g.141459290C>A		TSP Lung(27;0.18)					p.G2143_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	40	7398	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2143			EGF-like 5.		Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.6427_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064715	0.76187	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	4.58	4.58	0.56647	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.95484	0.8533	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95631	0.8689	9	.	.	.	.	17.5696	0.87931	0.0:1.0:0.0:0.0	.	2143	Q9NZR2	LRP1B_HUMAN	W	2143;2081	ENSP00000374135:G2143W	.	G	-	1	0	LRP1B	141175760	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.539000	0.82063	2.360000	0.80028	0.467000	0.42956	GGG		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	42	21	1	0	7.63091e-17	1	9.32667e-17	42	21				
GATS	352954	broad.mit.edu	37	7	99821545	99821545	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr7:99821545G>A	ENST00000436886.2	-	3	619	c.371C>T	c.(370-372)tCc>tTc	p.S124F	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	124										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATGAACACGGATATGTTCTG	0.572																																						ENST00000436886.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(370-372)tCc>tTc									97.0	113.0	108.0					7																	99821545		2113	4220	6333	SO:0001583	missense	352954							g.chr7:99821545G>A	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.371C>T	7.37:g.99821545G>A	ENSP00000389760:p.Ser124Phe					GATS_ENST00000543273.1_RNA	p.S124F	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN			3	619	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		124					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	37	c.371C>T	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	g	12.27	1.887779	0.33348	.	.	ENSG00000160844	ENST00000436886	.	.	.	1.08	1.08	0.20341	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.89353	3.025	0.42662	D	0.993481	D	0.89917	1.0	D	0.97110	1.0	T	0.79045	-0.1964	9	0.87932	D	0	.	8.0879	0.30784	0.0:0.0:1.0:0.0	.	124	Q8NAP1	GATS_HUMAN	F	124	.	ENSP00000389760:S124F	S	-	2	0	GATS	99659481	1.000000	0.71417	0.986000	0.45419	0.065000	0.16274	8.020000	0.88740	0.906000	0.36621	0.173000	0.16961	TCC		0.572	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		38	81	0	0	0	1	0	38	81				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln					FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	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;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			28	50	0	0	0	1	0	28	50				
KIF21B	23046	broad.mit.edu	37	1	200954026	200954026	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:200954026C>T	ENST00000422435.2	-	27	4080	c.3764G>A	c.(3763-3765)cGt>cAt	p.R1255H	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1255H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1255					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTGGTGAGACGAGAGAAGAC	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3763-3765)cGt>cAt		kinesin family member 21B							100.0	91.0	94.0					1																	200954026		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200954026C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3764G>A	1.37:g.200954026C>T	ENSP00000411831:p.Arg1255His					KIF21B_ENST00000461742.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1255H	p.R1255H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			27	4080	-			1255					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3764G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206984	0.79127	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73681	-0.39;-0.68;-0.77;-0.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	M	0.69823	2.125	0.58432	D	0.999994	B;B;B;B	0.16396	0.01;0.01;0.01;0.017	B;B;B;B	0.12156	0.005;0.005;0.003;0.007	T	0.73572	-0.3940	10	0.87932	D	0	.	19.5116	0.95144	0.0:1.0:0.0:0.0	.	1255;1255;1255;1255	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	1255	ENSP00000328494:R1255H;ENSP00000353724:R1255H;ENSP00000433808:R1255H;ENSP00000411831:R1255H	ENSP00000328494:R1255H	R	-	2	0	KIF21B	199220649	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.203000	0.77864	2.615000	0.88500	0.561000	0.74099	CGT		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		22	24	0	0	0	1	0	22	24				
ABCC11	85320	broad.mit.edu	37	16	48234310	48234310	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr16:48234310C>A	ENST00000394747.1	-	14	2308	c.1959G>T	c.(1957-1959)caG>caT	p.Q653H	ABCC11_ENST00000353782.5_Missense_Mutation_p.Q653H|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q653H|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q653H|ABCC11_ENST00000537808.1_Missense_Mutation_p.Q653H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	653	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCAGGTAGATCTGACGGTCGG	0.592																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1957-1959)caG>caT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							85.0	70.0	75.0					16																	48234310		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48234310C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1959G>T	16.37:g.48234310C>A	ENSP00000378230:p.Gln653His					ABCC11_ENST00000353782.5_Missense_Mutation_p.Q653H|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q653H|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q653H|ABCC11_ENST00000537808.1_Missense_Mutation_p.Q653H	p.Q653H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			14	2308	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	653			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1959G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851127	0.17034	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.7	0.203	0.15195	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.233614	0.42682	D	0.000672	T	0.78400	0.4277	L	0.37850	1.14	0.09310	N	0.999999	P;B	0.48503	0.911;0.432	P;P	0.49451	0.562;0.611	T	0.70212	-0.4934	10	0.87932	D	0	-9.9655	2.3315	0.04237	0.2212:0.465:0.1082:0.2057	.	653;653	Q96J66-2;Q96J66	.;ABCCB_HUMAN	H	653	ENSP00000311326:Q653H;ENSP00000349017:Q653H;ENSP00000378231:Q653H;ENSP00000378230:Q653H;ENSP00000438530:Q653H	ENSP00000311326:Q653H	Q	-	3	2	ABCC11	46791811	0.001000	0.12720	0.001000	0.08648	0.078000	0.17371	-0.105000	0.10907	-0.397000	0.07691	-0.797000	0.03246	CAG		0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		22	31	1	0	2.54575e-18	1	3.14322e-18	22	31				
KIRREL2	84063	broad.mit.edu	37	19	36350480	36350480	+	Missense_Mutation	SNP	G	G	A	rs376544628		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:36350480G>A	ENST00000360202.5	+	5	818	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207Q|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207Q|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157Q	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGGCCCGGAGCCAGGCC	0.627																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(619-621)cGg>cAg		kin of IRRE like 2 (Drosophila)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	61.0	61.0	61.0		620,470,620	3.6	1.0	19		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIRREL2	NM_032123.5,NM_199179.2,NM_199180.2	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	207/634,157/584,207/709	36350480	1,13005	2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36350480G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.620G>A	19.37:g.36350480G>A	ENSP00000353331:p.Arg207Gln					NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207Q|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207Q|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157Q|KIRREL2_ENST00000586102.2_Intron	p.R207Q	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	818	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		207			Ig-like C2-type 2.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.620G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568772	0.45798	0.0	1.16E-4	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202	T;T;T	0.73897	-0.79;-0.79;-0.79	4.72	3.63	0.41609	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.689729	0.11989	N	0.509991	T	0.61476	0.2350	L	0.49350	1.555	0.25752	N	0.985049	B;P;D;D	0.56287	0.173;0.95;0.975;0.975	B;B;B;B	0.37943	0.028;0.261;0.255;0.255	T	0.50074	-0.8870	10	0.13470	T	0.59	-6.6961	8.2245	0.31560	0.1176:0.0:0.8824:0.0	.	207;207;157;207	F1T0I2;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;KIRR2_HUMAN;.;.	Q	207;157;207	ENSP00000262625:R207Q;ENSP00000345067:R157Q;ENSP00000353331:R207Q	ENSP00000262625:R207Q	R	+	2	0	KIRREL2	41042320	0.029000	0.19370	0.996000	0.52242	0.411000	0.31082	1.053000	0.30442	1.258000	0.44101	-0.389000	0.06534	CGG		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		34	43	0	0	0	1	0	34	43				
JPH3	57338	broad.mit.edu	37	16	87678395	87678395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr16:87678395G>A	ENST00000284262.2	+	2	1156	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	305					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GTGAGCCAGCGCTCGGACGGG	0.662																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(913-915)cGc>cAc		junctophilin 3							70.0	74.0	72.0					16																	87678395		2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678395G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.914G>A	16.37:g.87678395G>A	ENSP00000284262:p.Arg305His						p.R305H	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1156	+			305					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.914G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526601	0.85706	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.54866	0.55	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	N	0.12920	0.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62544	-0.6832	10	0.45353	T	0.12	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	305	Q8WXH2	JPH3_HUMAN	H	168;305	ENSP00000284262:R305H	ENSP00000284262:R305H	R	+	2	0	JPH3	86235896	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	CGC		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			31	57	0	0	0	1	0	31	57				
HSPB2	3316	broad.mit.edu	37	11	111784181	111784181	+	Missense_Mutation	SNP	G	G	T	rs145827670		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr11:111784181G>T	ENST00000304298.3	+	2	699	c.111G>T	c.(109-111)gaG>gaT	p.E37D	CRYAB_ENST00000531198.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000533280.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.E37D|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000525823.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	37					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGCCAGAAGAGATCCTGACCC	0.637																																						ENST00000304298.3																			0				large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(109-111)gaG>gaT		heat shock 27kDa protein 2							167.0	176.0	173.0					11																	111784181		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784181G>T	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.111G>T	11.37:g.111784181G>T	ENSP00000302476:p.Glu37Asp					HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.E37D|CRYAB_ENST00000533475.1_Intron	p.E37D	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	699	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	37					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.111G>T	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	G	1.192	-0.634901	0.03584	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.88509	-2.39;-2.39	4.66	2.75	0.32379	.	0.200524	0.41605	D	0.000845	T	0.71099	0.3300	N	0.12182	0.205	0.33531	D	0.593628	B	0.11235	0.004	B	0.09377	0.004	T	0.62515	-0.6838	10	0.02654	T	1	-7.5482	4.8837	0.13692	0.077:0.2748:0.5067:0.1414	.	37	Q16082	HSPB2_HUMAN	D	37	ENSP00000302476:E37D;ENSP00000445585:E37D	ENSP00000302476:E37D	E	+	3	2	HSPB2	111289391	0.983000	0.35010	1.000000	0.80357	0.959000	0.62525	0.071000	0.14594	0.673000	0.31224	0.557000	0.71058	GAG		0.637	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			84	257	1	0	8.2577e-42	1	1.08607e-41	84	257				
NCOR2	9612	broad.mit.edu	37	12	124832754	124832754	+	Silent	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr12:124832754G>T	ENST00000405201.1	-	29	3951	c.3951C>A	c.(3949-3951)cgC>cgA	p.R1317R	NCOR2_ENST00000397355.1_Silent_p.R1308R|NCOR2_ENST00000404621.1_Silent_p.R1307R|NCOR2_ENST00000429285.2_Silent_p.R1307R|NCOR2_ENST00000356219.3_Silent_p.R1324R|NCOR2_ENST00000404121.2_Silent_p.R878R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1325					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCTGCCCACGCGGCCCTCCA	0.652											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3970-3972)cgC>cgA		nuclear receptor corepressor 2							41.0	47.0	45.0					12																	124832754		2024	4159	6183	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124832754G>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3951C>A	12.37:g.124832754G>T			OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_ENST00000404621.1_Silent_p.R1307R|NCOR2_ENST00000404121.2_Silent_p.R878R|NCOR2_ENST00000429285.2_Silent_p.R1307R|NCOR2_ENST00000397355.1_Silent_p.R1308R|NCOR2_ENST00000405201.1_Silent_p.R1317R	p.R1324R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	30	4127	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1325					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.3972C>A	CCDS41858.2																																																																																				0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		27	46	1	0	1.66031e-10	1	1.96958e-10	27	46				
CR2	1380	broad.mit.edu	37	1	207649600	207649600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:207649600C>T	ENST00000367058.3	+	14	2750	c.2561C>T	c.(2560-2562)cCg>cTg	p.P854L	CR2_ENST00000458541.2_Missense_Mutation_p.P827L|CR2_ENST00000367059.3_Intron|CR2_ENST00000367057.3_Missense_Mutation_p.P913L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	854	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGTCCACCTCCGCCTAAGACC	0.493																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2737-2739)cCg>cTg		complement component (3d/Epstein Barr virus) receptor 2							142.0	126.0	131.0					1																	207649600		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207649600C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2561C>T	1.37:g.207649600C>T	ENSP00000356025:p.Pro854Leu					CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Missense_Mutation_p.P854L|CR2_ENST00000458541.2_Missense_Mutation_p.P827L	p.P913L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			15	2927	+			854			Sushi 15.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2738C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106240	0.56291	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	D;D;D	0.84223	-1.82;-1.82;-1.82	4.78	4.78	0.61160	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.89396	0.6703	M	0.65975	2.015	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85440	0.1154	9	0.07813	T	0.8	.	14.0291	0.64604	0.0:1.0:0.0:0.0	.	854;913	P20023;P20023-3	CR2_HUMAN;.	L	854;913;827	ENSP00000356025:P854L;ENSP00000356024:P913L;ENSP00000404222:P827L	ENSP00000356024:P913L	P	+	2	0	CR2	205716223	0.231000	0.23751	0.208000	0.23602	0.421000	0.31385	3.877000	0.56123	2.595000	0.87683	0.655000	0.94253	CCG		0.493	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		16	50	0	0	0	1	0	16	50				
FDX1L	112812	broad.mit.edu	37	19	10428261	10428261	+	5'Flank	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:10428261G>T	ENST00000393708.3	-	0	0				FDX1L_ENST00000541276.1_5'Flank|CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.Q115K|FDX1L_ENST00000494368.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_5'Flank|FDX1L_ENST00000492239.1_5'Flank|RAVER1_ENST00000293677.6_Missense_Mutation_p.Q714K	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CTGCGTTTCTGGCCGCCCAGT	0.741																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(2140-2142)Cag>Aag		ribonucleoprotein, PTB-binding 1							18.0	20.0	19.0					19																	10428261		1923	4104	6027	SO:0001631	upstream_gene_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10428261G>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428261G>T	Exception_encountered					CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.Q115K	p.Q714K	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		13	2221	-			0					Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.2140C>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200853	0.94997	.	.	ENSG00000161847	ENST00000293677	T	0.40756	1.02	5.15	5.15	0.70609	.	0.733081	0.12443	N	0.468514	T	0.46889	0.1416	M	0.61703	1.905	0.50467	D	0.999872	P	0.42409	0.779	B	0.41236	0.351	T	0.49194	-0.8965	10	0.49607	T	0.09	-2.6071	16.1069	0.81230	0.0:0.0:1.0:0.0	.	714	E9PAU2	.	K	714	ENSP00000293677:Q714K	ENSP00000293677:Q714K	Q	-	1	0	RAVER1	10289261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.186000	0.89706	2.411000	0.81874	0.561000	0.74099	CAG		0.741	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			15	18	1	0	7.93312e-07	1	8.80649e-07	15	18				
ATP7B	540	broad.mit.edu	37	13	52524492	52524492	+	Missense_Mutation	SNP	C	C	T	rs374592960		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr13:52524492C>T	ENST00000242839.4	-	10	2647	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	831					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACCACCTTGACGATATCGCCC	0.557									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(2491-2493)Gtc>Atc		ATPase, Cu++ transporting, beta polypeptide		C	ILE/VAL,ILE/VAL	0,4244		0,0,2122	75.0	79.0	78.0		2491,2005	4.4	1.0	13		78	2,8496		0,2,4247	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	29,29	0,2,6369	TT,TC,CC		0.0235,0.0,0.0157	benign,benign	831/1466,669/1259	52524492	2,12740	2122	4249	6371	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524492C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2491G>A	13.37:g.52524492C>T	ENSP00000242839:p.Val831Ile					ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I	p.V831I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2647	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	831					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2491G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	3.737	-0.054291	0.07362	0.0	2.35E-4	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000418097	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.54	4.37	0.52481	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.163004	0.52532	N	0.000064	T	0.75532	0.3862	N	0.04387	-0.21	0.80722	D	1	B;B;P;B;P;B;B	0.39216	0.002;0.004;0.487;0.002;0.664;0.005;0.005	B;B;B;B;B;B;B	0.34489	0.002;0.01;0.184;0.002;0.079;0.003;0.009	T	0.76149	-0.3065	10	0.02654	T	1	-15.5354	7.8425	0.29406	0.0:0.2956:0.0:0.7044	.	753;783;831;103;720;669;831	E7ET55;B7ZLR4;F5H748;E7EQQ2;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	I	831;720;669;103;753;831	ENSP00000242839:V831I;ENSP00000383217:V720I;ENSP00000342559:V669I;ENSP00000390360:V103I;ENSP00000416738:V753I;ENSP00000393343:V831I	ENSP00000242839:V831I	V	-	1	0	ATP7B	51422493	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.568000	0.45965	0.946000	0.37632	-0.302000	0.09304	GTC		0.557	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		11	33	0	0	0	1	0	11	33				
C17orf74	201243	broad.mit.edu	37	17	7330538	7330538	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:7330538G>C	ENST00000333870.3	+	3	1302	c.1228G>C	c.(1228-1230)Gcc>Ccc	p.A410P	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	410						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GTTGGACGAGGCCTCCCATCA	0.697																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1228-1230)Gcc>Ccc		chromosome 17 open reading frame 74							72.0	86.0	81.0					17																	7330538		2138	4249	6387	SO:0001583	missense	201243					integral to membrane		g.chr17:7330538G>C	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1228G>C	17.37:g.7330538G>C	ENSP00000328061:p.Ala410Pro					C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.A410P	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1302	+		Prostate(122;0.157)	410						Missense_Mutation	SNP	ENST00000333870.3	37	c.1228G>C	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447363	0.25987	.	.	ENSG00000184560	ENST00000333870	T	0.40225	1.04	4.53	-3.93	0.04143	.	0.965143	0.08438	N	0.945872	T	0.34658	0.0905	L	0.27053	0.805	0.09310	N	1	D	0.53745	0.962	P	0.51866	0.682	T	0.36187	-0.9758	10	0.66056	D	0.02	-5.2004	6.0868	0.19973	0.5797:0.1534:0.2669:0.0	.	410	Q0P670	CQ074_HUMAN	P	410	ENSP00000328061:A410P	ENSP00000328061:A410P	A	+	1	0	C17orf74	7271262	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.028000	0.13644	-0.579000	0.05952	-0.339000	0.08088	GCC		0.697	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		13	33	0	0	0	1	0	13	33				
DOCK11	139818	broad.mit.edu	37	X	117676917	117676917	+	Missense_Mutation	SNP	C	C	T	rs200968541		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:117676917C>T	ENST00000276202.7	+	3	311	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DOCK11_ENST00000276204.6_Missense_Mutation_p.T83M	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	83	Interaction with activated CDC42. {ECO:0000250}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAACGCAGAACGGTGCAGTCT	0.398													C|||	0	0.0	0.0	0.0	3775	,	,		8003	0.0		0.0	False		,,,				2504	0.0					ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(247-249)aCg>aTg		dedicator of cytokinesis 11		C	MET/THR	1,3834		0,0,1,1632,570	103.0	96.0	98.0		248	5.0	1.0	X		98	0,6728		0,0,0,2428,1872	no	missense	DOCK11	NM_144658.3	81	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	probably-damaging	83/2074	117676917	1,10562	2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117676917C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.248C>T	X.37:g.117676917C>T	ENSP00000276202:p.Thr83Met					DOCK11_ENST00000276202.7_Missense_Mutation_p.T83M	p.T83M			Q5JSL3	DOC11_HUMAN			3	322	+			83			Interaction with activated CDC42 (By similarity).		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.248C>T	CCDS35373.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.9	4.220777	0.79464	2.61E-4	0.0	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.57907	0.37;0.37	5.03	5.03	0.67393	.	0.056275	0.64402	D	0.000001	T	0.77068	0.4076	M	0.90145	3.09	0.52501	D	0.99995	D	0.89917	1.0	D	0.70935	0.971	T	0.82820	-0.0268	10	0.87932	D	0	-24.3343	16.0713	0.80936	0.0:1.0:0.0:0.0	.	83	Q5JSL3	DOC11_HUMAN	M	83	ENSP00000276204:T83M;ENSP00000276202:T83M	ENSP00000276202:T83M	T	+	2	0	DOCK11	117560945	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	5.070000	0.64376	2.310000	0.77875	0.538000	0.68166	ACG		0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		18	64	0	0	0	1	0	18	64				
ALDH1A2	8854	broad.mit.edu	37	15	58253014	58253014	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr15:58253014G>T	ENST00000249750.4	-	12	2205	c.1438C>A	c.(1438-1440)Cag>Aag	p.Q480K	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q442K|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q459K|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q451K|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q384K	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	480					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AAGGGGCTCTGGGCATTTAAG	0.418																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1438-1440)Cag>Aag		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						89.0	84.0	86.0					15																	58253014		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58253014G>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1438C>A	15.37:g.58253014G>T	ENSP00000249750:p.Gln480Lys					ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q384K|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q459K|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q442K|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q451K	p.Q480K	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	12	2205	-			480					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1438C>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057036	0.93846	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.75704	-0.96;-0.96;-0.96	5.43	5.43	0.79202	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;0.983;1.0	D;D;P;D	0.91635	0.988;0.979;0.885;0.999	D	0.85252	0.1045	10	0.72032	D	0.01	.	18.249	0.89996	0.0:0.0:1.0:0.0	.	451;459;442;480	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	K	480;384;451;442;459	ENSP00000249750:Q480K;ENSP00000309623:Q442K;ENSP00000438296:Q459K	ENSP00000249750:Q480K	Q	-	1	0	ALDH1A2	56040306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.903000	0.87398	2.549000	0.85964	0.655000	0.94253	CAG		0.418	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			21	29	1	0	3.62473e-10	1	4.25818e-10	21	29				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258163	16258163	+	RNA	SNP	C	C	T	rs10027456	byFrequency	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr4:16258163C>T	ENST00000570786.1	+	0	518				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		ACGAACTCGCCGGCGTTGTTC	0.607													C|||	718	0.143371	0.0499	0.111	5008	,	,		17114	0.2589		0.1302	False		,,,				2504	0.1871					ENST00000570786.1																			0																																																			202020							g.chr4:16258163C>T			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258163C>T						TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA		NR_027696.1						0	518	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.607	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		3	23	0	0	0	1	0	3	23				
MEF2C	4208	broad.mit.edu	37	5	88047695	88047695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr5:88047695G>A	ENST00000437473.2	-	5	985	c.568C>T	c.(568-570)Cct>Tct	p.P190S	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.P190S|MEF2C_ENST00000340208.5_Missense_Mutation_p.P208S|MEF2C_ENST00000506554.1_Missense_Mutation_p.P190S|MEF2C_ENST00000539796.1_Missense_Mutation_p.P142S|MEF2C_ENST00000514028.1_Missense_Mutation_p.P190S|MEF2C_ENST00000508569.1_Missense_Mutation_p.P190S|MEF2C_ENST00000510942.1_Missense_Mutation_p.P190S|MEF2C_ENST00000424173.2_Missense_Mutation_p.P188S|MEF2C_ENST00000504921.2_Missense_Mutation_p.P190S	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	190					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GCACTTGGAGGTCGATGTGTT	0.473										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(568-570)Cct>Tct		myocyte enhancer factor 2C							289.0	281.0	284.0					5																	88047695		2021	4175	6196	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047695G>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.568C>T	5.37:g.88047695G>A	ENSP00000396219:p.Pro190Ser	HNSCC(66;0.2)				MEF2C_ENST00000437473.2_Missense_Mutation_p.P190S|MEF2C_ENST00000514015.1_Missense_Mutation_p.P190S|MEF2C_ENST00000424173.2_Missense_Mutation_p.P188S|MEF2C_ENST00000514028.1_Missense_Mutation_p.P190S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000508569.1_Missense_Mutation_p.P190S|MEF2C_ENST00000340208.5_Missense_Mutation_p.P208S|MEF2C_ENST00000506554.1_Missense_Mutation_p.P190S|MEF2C_ENST00000510942.1_Missense_Mutation_p.P190S|MEF2C_ENST00000539796.1_Missense_Mutation_p.P142S	p.P190S			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1240	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	190					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.568C>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502587	0.85176	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.90732	-0.12;-0.26;-0.34;-0.08;-0.08;-0.36;-0.41;-0.6;-0.41;-0.31;-2.67;-2.72	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.72353	2.195	0.80722	D	1	P;D;D;D	0.89917	0.589;0.997;0.998;1.0	B;D;D;D	0.97110	0.223;0.919;0.993;1.0	D	0.94494	0.7704	10	0.51188	T	0.08	-3.9243	19.8938	0.96942	0.0:0.0:1.0:0.0	.	188;208;190;190	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	S	208;188;190;190;190;190;190;190;190;142;188;188	ENSP00000340874:P208S;ENSP00000389610:P188S;ENSP00000421925:P190S;ENSP00000426665:P190S;ENSP00000396219:P190S;ENSP00000422390:P190S;ENSP00000425636:P190S;ENSP00000423597:P190S;ENSP00000424606:P190S;ENSP00000441153:P142S;ENSP00000423826:P188S;ENSP00000423656:P188S	ENSP00000340874:P208S	P	-	1	0	MEF2C	88083451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.703000	0.92315	0.460000	0.39030	CCT		0.473	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		56	130	0	0	0	1	0	56	130				
UBE3B	89910	broad.mit.edu	37	12	109948218	109948218	+	Missense_Mutation	SNP	G	G	A	rs369410122		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr12:109948218G>A	ENST00000342494.3	+	17	2406	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	UBE3B_ENST00000280774.5_Missense_Mutation_p.R604Q|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.R604Q	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	604					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTGTACGAGCGGGACTGCCGG	0.627																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1810-1812)cGg>cAg		ubiquitin protein ligase E3B		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	40.0	41.0		1811,1811	5.0	1.0	12		41	0,8600		0,0,4300	no	missense,missense	UBE3B	NM_130466.2,NM_183415.1	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	604/1069,604/1069	109948218	1,13005	2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109948218G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1811G>A	12.37:g.109948218G>A	ENSP00000340596:p.Arg604Gln					UBE3B_ENST00000434735.2_Missense_Mutation_p.R604Q|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.R604Q	p.R604Q	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			17	2406	+			604					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1811G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741259	0.96873	2.27E-4	0.0	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.69806	0.57;-0.43;0.78;0.57	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.82513	0.5053	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.85506	0.1194	10	0.87932	D	0	-21.6028	17.2166	0.86946	0.0:0.0:1.0:0.0	.	604	Q7Z3V4	UBE3B_HUMAN	Q	604;604;604;604;31	ENSP00000391529:R604Q;ENSP00000280774:R604Q;ENSP00000443131:R604Q;ENSP00000340596:R604Q	ENSP00000280774:R604Q	R	+	2	0	UBE3B	108432601	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.380000	0.97202	2.298000	0.77334	0.462000	0.41574	CGG		0.627	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		5	12	0	0	0	1	0	5	12				
CTSD	1509	broad.mit.edu	37	11	1780781	1780781	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr11:1780781G>A	ENST00000236671.2	-	3	449	c.317C>T	c.(316-318)cCc>cTc	p.P106L	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	106					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGGATGGAGGGGACCCACAG	0.657																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(316-318)cCc>cTc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						72.0	68.0	69.0					11																	1780781		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780781G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.317C>T	11.37:g.1780781G>A	ENSP00000236671:p.Pro106Leu						p.P106L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	3	449	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	106					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.317C>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	19.64	3.866060	0.71949	.	.	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.61040	0.14;0.27;0.21	4.2	3.27	0.37495	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85187	0.1007	10	0.87932	D	0	.	11.6489	0.51277	0.0879:0.0:0.9121:0.0	.	106	P07339	CATD_HUMAN	L	106;91;71	ENSP00000236671:P106L;ENSP00000415036:P91L;ENSP00000356164:P71L	ENSP00000236671:P106L	P	-	2	0	CTSD	1737357	1.000000	0.71417	0.998000	0.56505	0.449000	0.32228	6.954000	0.76001	2.061000	0.61500	0.486000	0.48141	CCC		0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		28	102	0	0	0	1	0	28	102				
KLHL26	55295	broad.mit.edu	37	19	18775082	18775082	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:18775082A>G	ENST00000300976.4	+	2	185	c.95A>G	c.(94-96)aAg>aGg	p.K32R	KLHL26_ENST00000599006.1_Missense_Mutation_p.K32R|KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.K32R	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	32										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACGGCCGACAAGAACGGGGCC	0.622																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(94-96)aAg>aGg		kelch-like family member 26							87.0	101.0	97.0					19																	18775082		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18775082A>G		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.95A>G	19.37:g.18775082A>G	ENSP00000300976:p.Lys32Arg					KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.K32R|KLHL26_ENST00000599006.1_Missense_Mutation_p.K32R	p.K32R	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			2	185	+			32					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.95A>G	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	A	5.226	0.227160	0.09916	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.75821	-0.97	4.14	0.776	0.18532	.	0.055764	0.64402	N	0.000001	T	0.49253	0.1546	N	0.08118	0	0.39421	D	0.966912	B	0.06786	0.001	B	0.04013	0.001	T	0.17561	-1.0365	10	0.35671	T	0.21	.	7.6633	0.28415	0.75:0.0:0.25:0.0	.	32	Q53HC5	KLH26_HUMAN	R	32	ENSP00000300976:K32R	ENSP00000300976:K32R	K	+	2	0	KLHL26	18636082	1.000000	0.71417	0.170000	0.22879	0.027000	0.11550	4.667000	0.61561	-0.120000	0.11809	-0.441000	0.05720	AAG		0.622	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		46	118	0	0	0	1	0	46	118				
DMD	1756	broad.mit.edu	37	X	32509576	32509576	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:32509576C>T	ENST00000357033.4	-	20	2646	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	DMD_ENST00000378677.2_Missense_Mutation_p.E810K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	814					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGCAGAATTCGATCCACCGG	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2440-2442)Gaa>Aaa		dystrophin							82.0	66.0	72.0					X																	32509576		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32509576C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2440G>A	X.37:g.32509576C>T	ENSP00000354923:p.Glu814Lys					DMD_ENST00000378677.2_Missense_Mutation_p.E810K	p.E814K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			20	2646	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	814					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2440G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395997	0.42512	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.53423	0.62;0.62	4.94	4.07	0.47477	.	0.000000	0.37348	U	0.002133	T	0.36496	0.0969	L	0.54323	1.7	0.80722	D	1	P;D;P	0.53462	0.484;0.96;0.54	B;B;B	0.37888	0.033;0.26;0.055	T	0.27434	-1.0074	10	0.09338	T	0.73	.	13.0022	0.58683	0.0:0.9185:0.0:0.0815	.	806;814;810	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	K	806;810;814;814;691	ENSP00000367948:E810K;ENSP00000354923:E814K	ENSP00000354923:E814K	E	-	1	0	DMD	32419497	1.000000	0.71417	0.202000	0.23494	0.984000	0.73092	5.634000	0.67833	0.990000	0.38787	0.429000	0.28392	GAA		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		19	43	0	0	0	1	0	19	43				
SLC16A1	6566	broad.mit.edu	37	1	113459887	113459887	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:113459887G>A	ENST00000538576.1	-	4	1972	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	SLC16A1_ENST00000433570.4_Missense_Mutation_p.L381F|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L381F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	381					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	GGTCCAACAAGGTCCATCAAT	0.488																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(1141-1143)Ctt>Ttt		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						54.0	47.0	50.0					1																	113459887		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113459887G>A	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1141C>T	1.37:g.113459887G>A	ENSP00000441065:p.Leu381Phe					SLC16A1_ENST00000433570.4_Missense_Mutation_p.L381F|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L381F	p.L381F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1972	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	381					Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.1141C>T	CCDS858.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182790	0.78677	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90352	0.6981	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	D	0.91326	0.5086	10	0.72032	D	0.01	.	10.0955	0.42473	0.1503:0.0:0.8497:0.0	.	381;381	Q49A45;P53985	.;MOT1_HUMAN	F	381	ENSP00000358640:L381F;ENSP00000441065:L381F;ENSP00000416167:L381F;ENSP00000445061:L381F	ENSP00000358640:L381F	L	-	1	0	SLC16A1	113261410	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.033000	0.57282	2.771000	0.95319	0.563000	0.77884	CTT		0.488	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		15	28	0	0	0	1	0	15	28				
AGAP11	119385	broad.mit.edu	37	10	88752206	88752206	+	RNA	SNP	G	G	A	rs1745903	byFrequency	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr10:88752206G>A	ENST00000444431.1	+	0	44				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CTGCTGTGGGGATGGCTTGAT	0.423													g|||	1954	0.390176	0.5477	0.5043	5008	,	,		20482	0.2381		0.329	False		,,,				2504	0.316					ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88752206G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88752206G>A						RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	44	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.423	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		3	26	0	0	0	1	0	3	26				
LILRB3	11025	broad.mit.edu	37	19	54726840	54726840	+	Silent	SNP	G	G	A	rs566409321	byFrequency	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:54726840G>A	ENST00000391750.1	-	2	145	c.9C>T	c.(7-9)ccC>ccT	p.P3P	LILRB3_ENST00000346401.6_Silent_p.P3P|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Silent_p.P3P|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000424807.1_Silent_p.P3P|LILRB3_ENST00000469273.1_5'Flank|CTB-83J4.1_ENST00000601161.1_lincRNA			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	3					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGAGGGCGGGCGTCATGG	0.642													.|||	34	0.00678914	0.0242	0.0014	5008	,	,		13916	0.0		0.0	False		,,,				2504	0.001					ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(7-9)ccC>ccT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							41.0	51.0	48.0					19																	54726840		2151	4248	6399	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54726840G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.9C>T	19.37:g.54726840G>A						LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000245620.9_Silent_p.P3P|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Silent_p.P3P|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000424807.1_Silent_p.P3P|LILRA6_ENST00000419410.2_Intron	p.P3P			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	145	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		3					C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.9C>T	CCDS33105.1																																																																																				0.642	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		12	64	0	0	0	1	0	12	64				
DGAT2L6	347516	broad.mit.edu	37	X	69420163	69420163	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:69420163A>C	ENST00000333026.3	+	4	426	c.326A>C	c.(325-327)cAt>cCt	p.H109P		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	109					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AATCACCCCCATGGCATTCTC	0.463																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(325-327)cAt>cCt		diacylglycerol O-acyltransferase 2-like 6							195.0	143.0	161.0					X																	69420163		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420163A>C	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.326A>C	X.37:g.69420163A>C	ENSP00000328036:p.His109Pro						p.H109P	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			4	426	+			109					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.326A>C	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.782977	0.70222	.	.	ENSG00000184210	ENST00000333026	T	0.26957	1.7	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.64832	0.2634	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76971	-0.2761	10	0.87932	D	0	-4.2947	12.077	0.53649	1.0:0.0:0.0:0.0	.	109	Q6ZPD8	DG2L6_HUMAN	P	109	ENSP00000328036:H109P	ENSP00000328036:H109P	H	+	2	0	DGAT2L6	69336888	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	8.325000	0.90007	1.982000	0.57802	0.486000	0.48141	CAT		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		27	54	0	0	0	1	0	27	54				
GP1BA	2811	broad.mit.edu	37	17	4836597	4836597	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:4836597G>A	ENST00000329125.5	+	2	773	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	233	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTCTATTTTCGTCGCTGGCTG	0.498																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(697-699)cGt>cAt		glycoprotein Ib (platelet), alpha polypeptide							87.0	80.0	82.0					17																	4836597		2010	4189	6199	SO:0001583	missense	2811							g.chr17:4836597G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.698G>A	17.37:g.4836597G>A	ENSP00000329380:p.Arg233His						p.R233H	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	773	+			233					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.698G>A	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190217	0.38707	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.53640	0.61	4.81	-1.27	0.09347	.	1.003230	0.08040	N	0.994913	T	0.53158	0.1779	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.59703	0.862	T	0.46359	-0.9197	10	0.62326	D	0.03	-2.1257	4.503	0.11874	0.3535:0.2967:0.3498:0.0	.	233	A5CKE2	.	H	233	ENSP00000329380:R233H	ENSP00000329380:R233H	R	+	2	0	GP1BA	4777377	0.000000	0.05858	0.018000	0.16275	0.623000	0.37688	0.122000	0.15687	0.103000	0.17682	0.313000	0.20887	CGT		0.498	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			28	54	0	0	0	1	0	28	54				
KBTBD3	143879	broad.mit.edu	37	11	105924557	105924557	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr11:105924557C>A	ENST00000526793.1	-	3	1018	c.859G>T	c.(859-861)Gat>Tat	p.D287Y	KBTBD3_ENST00000531837.1_Missense_Mutation_p.D287Y|KBTBD3_ENST00000534815.1_Missense_Mutation_p.D208Y	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	283										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GGTCGAGCATCAGGGAAGAGT	0.358																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(859-861)Gat>Tat		kelch repeat and BTB (POZ) domain containing 3							110.0	99.0	103.0					11																	105924557		2200	4296	6496	SO:0001583	missense	143879							g.chr11:105924557C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.859G>T	11.37:g.105924557C>A	ENSP00000436262:p.Asp287Tyr					KBTBD3_ENST00000531837.1_Missense_Mutation_p.D287Y|KBTBD3_ENST00000534815.1_Missense_Mutation_p.D208Y	p.D287Y	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1018	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	283					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.859G>T	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461056	0.63513	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66815	-0.11;-0.23;-0.23	5.62	5.62	0.85841	.	0.041859	0.85682	N	0.000000	T	0.69214	0.3086	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.85130	0.949;0.997	T	0.76545	-0.2920	10	0.66056	D	0.02	.	19.6536	0.95828	0.0:1.0:0.0:0.0	.	287;283	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Y	208;287;287	ENSP00000431910:D208Y;ENSP00000436262:D287Y;ENSP00000432163:D287Y	ENSP00000436262:D287Y	D	-	1	0	KBTBD3	105429767	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.153000	0.77428	2.652000	0.90054	0.585000	0.79938	GAT		0.358	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		73	78	1	0	1.356e-25	1	1.72712e-25	73	78				
TBL1X	6907	broad.mit.edu	37	X	9659730	9659730	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:9659730T>G	ENST00000217964.7	+	8	1368	c.728T>G	c.(727-729)gTc>gGc	p.V243G	TBL1X_ENST00000424279.1_Missense_Mutation_p.V192G|TBL1X_ENST00000380961.1_Missense_Mutation_p.V192G|TBL1X_ENST00000407597.2_Missense_Mutation_p.V243G|TBL1X_ENST00000536365.1_Missense_Mutation_p.V192G	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	243					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGAATCCTGTCAGTGATTTG	0.547																																						ENST00000217964.7																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(727-729)gTc>gGc		transducin (beta)-like 1X-linked							170.0	131.0	144.0					X																	9659730		2203	4300	6503	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9659730T>G	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.728T>G	X.37:g.9659730T>G	ENSP00000217964:p.Val243Gly					TBL1X_ENST00000380961.1_Missense_Mutation_p.V192G|TBL1X_ENST00000424279.1_Missense_Mutation_p.V192G|TBL1X_ENST00000536365.1_Missense_Mutation_p.V192G|TBL1X_ENST00000407597.2_Missense_Mutation_p.V243G	p.V243G	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN			8	1368	+		Hepatocellular(5;0.000888)	243					A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.728T>G	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	t	15.58	2.876985	0.51801	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.55588	0.51;3.57;3.57;3.57;0.51	4.48	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066993	0.64402	D	0.000015	T	0.37598	0.1009	N	0.04705	-0.18	0.80722	D	1	B;B	0.30973	0.302;0.045	B;B	0.39339	0.297;0.143	T	0.39187	-0.9626	10	0.41790	T	0.15	.	13.3231	0.60444	0.0:0.0:0.0:1.0	.	206;243	Q59F53;O60907	.;TBL1X_HUMAN	G	243;192;192;192;243	ENSP00000385988:V243G;ENSP00000394097:V192G;ENSP00000445317:V192G;ENSP00000370348:V192G;ENSP00000217964:V243G	ENSP00000217964:V243G	V	+	2	0	TBL1X	9619730	1.000000	0.71417	0.923000	0.36655	0.909000	0.53808	5.681000	0.68175	1.586000	0.49944	0.483000	0.47432	GTC		0.547	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		25	46	0	0	0	1	0	25	46				
CLCN5	1184	broad.mit.edu	37	X	49840630	49840630	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:49840630C>A	ENST00000307367.2	+	4	677	c.386C>A	c.(385-387)aCa>aAa	p.T129K	CLCN5_ENST00000376108.3_Missense_Mutation_p.T129K|CLCN5_ENST00000376088.3_Missense_Mutation_p.T199K|CLCN5_ENST00000376091.3_Missense_Mutation_p.T199K			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	129					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATCATCAGCACAGATGAGGTA	0.388																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(595-597)aCa>aAa		chloride channel, voltage-sensitive 5							125.0	96.0	106.0					X																	49840630		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49840630C>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.386C>A	X.37:g.49840630C>A	ENSP00000304257:p.Thr129Lys					CLCN5_ENST00000376108.3_Missense_Mutation_p.T129K|CLCN5_ENST00000307367.2_Missense_Mutation_p.T129K|CLCN5_ENST00000376091.3_Missense_Mutation_p.T199K	p.T199K	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			7	1237	+	Ovarian(276;0.236)		129					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.596C>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798858	0.02841	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.89343	-2.5;-2.5;-2.48;-2.48	5.27	3.21	0.36854	Chloride channel, core (1);	0.261747	0.40064	N	0.001190	T	0.71392	0.3334	N	0.14661	0.345	0.18873	N	0.999986	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.54214	-0.8327	10	0.06891	T	0.86	-0.4474	2.3177	0.04202	0.3305:0.4271:0.139:0.1034	.	129;199	P51795;P51795-2	CLCN5_HUMAN;.	K	199;31;199;129;129	ENSP00000365256:T199K;ENSP00000365259:T199K;ENSP00000365276:T129K;ENSP00000304257:T129K	ENSP00000304257:T129K	T	+	2	0	CLCN5	49727370	0.031000	0.19500	0.817000	0.32601	0.957000	0.61999	0.434000	0.21494	1.134000	0.42165	0.529000	0.55759	ACA		0.388	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			22	55	1	0	8.10497e-08	1	9.2519e-08	22	55				
SEC11C	90701	broad.mit.edu	37	18	56816786	56816786	+	Silent	SNP	T	T	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr18:56816786T>C	ENST00000587834.1	+	2	601	c.129T>C	c.(127-129)tcT>tcC	p.S43S	SEC11C_ENST00000588875.1_Silent_p.S43S	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	43					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TCGTGTCTTCTGCACTCATGA	0.507																																						ENST00000587834.1																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9						c.(127-129)tcT>tcC		SEC11 homolog C (S. cerevisiae)							199.0	180.0	187.0					18																	56816786		2203	4300	6503	SO:0001819	synonymous_variant	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56816786T>C	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.129T>C	18.37:g.56816786T>C						SEC11C_ENST00000588875.1_Silent_p.S43S	p.S43S	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN			2	601	+		Colorectal(73;0.175)	43					B2RAA3	Silent	SNP	ENST00000587834.1	37	c.129T>C	CCDS11970.1																																																																																				0.507	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280		5	65	0	0	0	1	0	5	65				
SPTBN5	51332	broad.mit.edu	37	15	42174866	42174866	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr15:42174866G>A	ENST00000320955.6	-	10	2190	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	655					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTCCTTCAGCCAGGCTTCC	0.667																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1963-1965)Ctg>Ttg		spectrin, beta, non-erythrocytic 5							16.0	19.0	18.0					15																	42174866		2027	4161	6188	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42174866G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1963C>T	15.37:g.42174866G>A							p.L655L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	10	2190	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	655						Silent	SNP	ENST00000320955.6	37	c.1963C>T																																																																																					0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	10	0	0	0	1	0	6	10				
PROM1	8842	broad.mit.edu	37	4	16000015	16000015	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr4:16000015C>A	ENST00000510224.1	-	15	1923	c.1675G>T	c.(1675-1677)Gtt>Ttt	p.V559F	PROM1_ENST00000505450.1_Missense_Mutation_p.V550F|PROM1_ENST00000447510.2_Missense_Mutation_p.V559F|PROM1_ENST00000539194.1_Missense_Mutation_p.V559F|PROM1_ENST00000543373.1_Missense_Mutation_p.V550F|PROM1_ENST00000508167.1_Missense_Mutation_p.V550F|PROM1_ENST00000540805.1_Missense_Mutation_p.V559F			O43490	PROM1_HUMAN	prominin 1	559					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TACCTGTAAACTTGTTCAAAA	0.294																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1648-1650)Gtt>Ttt		prominin 1							70.0	67.0	68.0					4																	16000015		1794	4056	5850	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16000015C>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1675G>T	4.37:g.16000015C>A	ENSP00000426809:p.Val559Phe					PROM1_ENST00000540805.1_Missense_Mutation_p.V559F|PROM1_ENST00000508167.1_Missense_Mutation_p.V550F|PROM1_ENST00000543373.1_Missense_Mutation_p.V550F|PROM1_ENST00000539194.1_Missense_Mutation_p.V559F|PROM1_ENST00000447510.2_Missense_Mutation_p.V559F|PROM1_ENST00000510224.1_Missense_Mutation_p.V559F	p.V550F	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			14	2260	-			559					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.1648G>T	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263680	0.39995	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.59	4.74	0.60224	.	0.203730	0.45126	D	0.000389	T	0.67795	0.2931	L	0.56396	1.775	0.36410	D	0.863682	P;P;P;P;D;P	0.89917	0.889;0.889;0.951;0.889;1.0;0.85	P;P;P;P;D;P	0.91635	0.618;0.618;0.618;0.618;0.999;0.652	T	0.75485	-0.3301	10	0.59425	D	0.04	-23.1501	13.1482	0.59474	0.0:0.9217:0.0:0.0783	.	550;559;550;559;550;559	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	F	559;559;559;550;550;559;550	ENSP00000415481:V559F;ENSP00000438045:V559F;ENSP00000443620:V559F;ENSP00000426090:V550F;ENSP00000427346:V550F;ENSP00000426809:V559F;ENSP00000445526:V550F	ENSP00000415481:V559F	V	-	1	0	PROM1	15609113	1.000000	0.71417	0.998000	0.56505	0.372000	0.29890	1.237000	0.32695	1.346000	0.45694	0.655000	0.94253	GTT		0.294	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	13	1	0	0.000157383	1	0.00017003	7	13				
ST6GALNAC2	10610	broad.mit.edu	37	17	74569351	74569351	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:74569351G>A	ENST00000225276.5	-	4	775	c.456C>T	c.(454-456)gcC>gcT	p.A152A	RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	152					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TGCCCACCACGGCACACCGGA	0.607																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(454-456)gcC>gcT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							37.0	32.0	34.0					17																	74569351		2203	4300	6503	SO:0001819	synonymous_variant	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74569351G>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.456C>T	17.37:g.74569351G>A						ST6GALNAC2_ENST00000586520.1_5'UTR	p.A152A	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			4	775	-			152					Q12971	Silent	SNP	ENST00000225276.5	37	c.456C>T	CCDS11747.1																																																																																				0.607	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		6	9	0	0	0	1	0	6	9				
AKAP14	158798	broad.mit.edu	37	X	119037536	119037536	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:119037536A>C	ENST00000371431.3	+	4	522	c.248A>C	c.(247-249)gAc>gCc	p.D83A	AKAP14_ENST00000371425.4_Missense_Mutation_p.D83A|AKAP14_ENST00000334356.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371422.1_Missense_Mutation_p.D83A|AKAP14_ENST00000371423.2_Missense_Mutation_p.D83A|AKAP14_ENST00000394594.2_Missense_Mutation_p.D83A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	83					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AAACAAATTGACGAATATTTT	0.418																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(247-249)gAc>gCc		A kinase (PRKA) anchor protein 14							80.0	63.0	69.0					X																	119037536		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119037536A>C	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.248A>C	X.37:g.119037536A>C	ENSP00000360485:p.Asp83Ala					AKAP14_ENST00000371423.2_Missense_Mutation_p.D83A|AKAP14_ENST00000334356.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371425.4_Missense_Mutation_p.D83A|AKAP14_ENST00000394594.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371422.1_Missense_Mutation_p.D83A	p.D83A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			4	522	+			83					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.248A>C	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786390	0.31593	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000394594;ENST00000371422;ENST00000334356	.	.	.	4.01	-1.41	0.08941	.	1.071760	0.07178	N	0.853636	T	0.18383	0.0441	N	0.12182	0.205	0.09310	N	1	B;B;B	0.21905	0.05;0.062;0.05	B;B;B	0.20955	0.019;0.032;0.019	T	0.23762	-1.0179	9	0.44086	T	0.13	-0.4288	3.884	0.09090	0.3986:0.3776:0.2239:0.0	.	83;83;83	A6NNZ0;Q86UN6;Q86UN6-3	.;AKA28_HUMAN;.	A	83	.	ENSP00000334680:D83A	D	+	2	0	AKAP14	118921564	0.514000	0.26202	0.000000	0.03702	0.000000	0.00434	0.712000	0.25779	-0.356000	0.08187	-0.360000	0.07572	GAC		0.418	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		21	43	0	0	0	1	0	21	43				
APC2	10297	broad.mit.edu	37	19	1465950	1465950	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:1465950C>T	ENST00000535453.1	+	14	4363	c.2650C>T	c.(2650-2652)Cca>Tca	p.P884S	APC2_ENST00000238483.4_Missense_Mutation_p.P610S|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.P884S			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACAGGAGGCGCCACGGGAGGG	0.731																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2650-2652)Cca>Tca		adenomatosis polyposis coli 2							11.0	13.0	12.0					19																	1465950		2168	4288	6456	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465950C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2650C>T	19.37:g.1465950C>T	ENSP00000442954:p.Pro884Ser					APC2_ENST00000238483.4_Missense_Mutation_p.P610S|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.P884S	p.P884S			O95996	APC2_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)	14	4363	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	884					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.2650C>T	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669616	0.14776	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92149	-2.98;-2.63;-2.98	4.18	1.83	0.25207	.	0.345653	0.26734	N	0.022779	D	0.84261	0.5433	L	0.34521	1.04	0.21290	N	0.999736	B;B	0.25667	0.131;0.08	B;B	0.22601	0.04;0.018	T	0.66002	-0.6031	10	0.07482	T	0.82	-3.6642	12.8949	0.58093	0.0:0.6899:0.3101:0.0	.	883;884	O95996-3;O95996	.;APC2_HUMAN	S	884;610;884	ENSP00000233607:P884S;ENSP00000238483:P610S;ENSP00000442954:P884S	ENSP00000233607:P884S	P	+	1	0	APC2	1416950	0.934000	0.31675	0.009000	0.14445	0.684000	0.39900	2.494000	0.45329	0.941000	0.37499	0.313000	0.20887	CCA		0.731	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		6	8	0	0	0	1	0	6	8				
SLC7A1	6541	broad.mit.edu	37	13	30110113	30110113	+	Silent	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr13:30110113C>A	ENST00000380752.5	-	3	599	c.213G>T	c.(211-213)ctG>ctT	p.L71L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	71					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCGCAGCGATCAGGAAGGAGA	0.632																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(211-213)ctG>ctT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						71.0	57.0	62.0					13																	30110113		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110113C>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.213G>T	13.37:g.30110113C>A							p.L71L	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	3	599	-		Lung SC(185;0.0257)|Breast(139;0.238)	71					Q5JR50	Silent	SNP	ENST00000380752.5	37	c.213G>T	CCDS9333.1																																																																																				0.632	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		13	40	1	0	0.00244969	1	0.00257751	13	40				
CNTNAP5	129684	broad.mit.edu	37	2	125285025	125285025	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr2:125285025C>G	ENST00000431078.1	+	10	2002	c.1638C>G	c.(1636-1638)atC>atG	p.I546M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	546	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGTAGCATCAAAGACAGGT	0.403																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1636-1638)atC>atG		contactin associated protein-like 5							132.0	129.0	130.0					2																	125285025		1893	4100	5993	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125285025C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1638C>G	2.37:g.125285025C>G	ENSP00000399013:p.Ile546Met						p.I546M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	2002	+			546			EGF-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1638C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246874	0.59103	.	.	ENSG00000155052	ENST00000431078	T	0.76316	-1.01	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45361	D	0.000375	D	0.87022	0.6074	M	0.67625	2.065	0.58432	D	0.999996	D	0.76494	0.999	D	0.83275	0.996	D	0.85003	0.0901	10	0.34782	T	0.22	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	546	Q8WYK1	CNTP5_HUMAN	M	546	ENSP00000399013:I546M	ENSP00000399013:I546M	I	+	3	3	CNTNAP5	125001495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.471000	0.53107	2.629000	0.89072	0.650000	0.86243	ATC		0.403	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			22	57	0	0	0	1	0	22	57				
FCGR1B	2210	broad.mit.edu	37	1	120930249	120930249	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:120930249C>T	ENST00000369384.4	-	4	394	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	FCGR1B_ENST00000472543.1_5'UTR|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E26K|RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	118	Ig-like C2-type 2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	GCCAGAGGTTCTCCTTCCATG	0.463																																						ENST00000369384.4																			0				breast(1)|endometrium(1)|lung(2)	4						c.(352-354)Gaa>Aaa		Fc fragment of IgG, high affinity Ib, receptor (CD64)							152.0	150.0	151.0					1																	120930249		2203	4300	6503	SO:0001583	missense	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120930249C>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.352G>A	1.37:g.120930249C>T	ENSP00000358391:p.Glu118Lys					RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E26K	p.E118K	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	394	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	118			Ig-like C2-type 2.		Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	37	c.352G>A	CCDS30821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.733|6.733	0.504090|0.504090	0.12822|0.12822	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.11277|.	2.79;2.79|.	2.16|2.16	0.192|0.192	0.15134|0.15134	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.665802|.	0.13619|.	N|.	0.374533|.	T|T	0.24122|0.24122	0.0584|0.0584	M|M	0.68593|0.68593	2.085|2.085	0.18873|0.18873	N|N	0.999988|0.999988	B;B;B;B|.	0.33477|.	0.032;0.032;0.012;0.413|.	B;B;B;B|.	0.33254|.	0.037;0.03;0.003;0.16|.	T|T	0.29731|0.29731	-1.0002|-1.0002	9|5	.|.	.|.	.|.	.|.	4.3447|4.3447	0.11127|0.11127	0.0:0.6371:0.0:0.3629|0.0:0.6371:0.0:0.3629	.|.	118;118;26;118|.	P12314-2;Q92637-2;Q92637-3;Q92637|.	.;.;.;FCGRB_HUMAN|.	K|K	118;26|102	ENSP00000358391:E118K;ENSP00000358390:E26K|.	.|.	E|R	-|-	1|2	0|0	FCGR1B|FCGR1B	120731772|120731772	0.933000|0.933000	0.31639|0.31639	0.619000|0.619000	0.29118|0.29118	0.208000|0.208000	0.24298|0.24298	0.916000|0.916000	0.28651|0.28651	0.059000|0.059000	0.16252|0.16252	0.184000|0.184000	0.17185|0.17185	GAA|AGA		0.463	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			45	114	0	0	0	1	0	45	114				
SFTPD	6441	broad.mit.edu	37	10	81706258	81706258	+	Missense_Mutation	SNP	C	C	T	rs142564545		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr10:81706258C>T	ENST00000372292.3	-	2	198	c.158G>A	c.(157-159)cGg>cAg	p.R53Q		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	53	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCTCCCATCCCGTCCATCGCG	0.597																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(157-159)cGg>cAg		surfactant protein D		C	GLN/ARG	0,4406		0,0,2203	72.0	63.0	66.0		158	4.6	1.0	10	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	missense	SFTPD	NM_003019.4	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	53/376	81706258	2,13004	2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81706258C>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.158G>A	10.37:g.81706258C>T	ENSP00000361366:p.Arg53Gln						p.R53Q	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		2	198	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		53			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.158G>A	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933344	0.52866	0.0	2.33E-4	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.93307	-3.2;-3.2	5.53	4.63	0.57726	.	0.256570	0.27433	N	0.019388	D	0.87791	0.6266	L	0.31926	0.97	0.29574	N	0.849685	B	0.28760	0.221	B	0.28385	0.089	T	0.78964	-0.1996	10	0.15952	T	0.53	-9.0272	11.9983	0.53216	0.0:0.915:0.0:0.085	.	53	P35247	SFTPD_HUMAN	Q	53;66	ENSP00000361366:R53Q;ENSP00000394325:R66Q	ENSP00000361366:R53Q	R	-	2	0	SFTPD	81696238	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	1.526000	0.35964	1.336000	0.45506	0.655000	0.94253	CGG		0.597	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			25	47	0	0	0	1	0	25	47				
GDF5	8200	broad.mit.edu	37	20	34022217	34022217	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr20:34022217G>A	ENST00000374372.1	-	4	1499	c.996C>T	c.(994-996)gcC>gcT	p.A332A	GDF5_ENST00000374369.3_Silent_p.A332A|GDF5OS_ENST00000374375.1_Silent_p.A87A			P43026	GDF5_HUMAN	growth differentiation factor 5	332					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGCCGGGCGGCGCGGTCGA	0.637																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(994-996)gcC>gcT		growth differentiation factor 5							31.0	32.0	32.0					20																	34022217		2203	4299	6502	SO:0001819	synonymous_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022217G>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.996C>T	20.37:g.34022217G>A						GDF5OS_ENST00000374375.1_Silent_p.A87A|GDF5_ENST00000374369.3_Silent_p.A332A	p.A332A			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		4	1499	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		332					E1P5Q2|Q96SB1	Silent	SNP	ENST00000374372.1	37	c.996C>T	CCDS13254.1																																																																																				0.637	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			36	89	0	0	0	1	0	36	89				
EVA1C	59271	broad.mit.edu	37	21	33830008	33830008	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr21:33830008T>G	ENST00000300255.2	+	3	934	c.461T>G	c.(460-462)gTc>gGc	p.V154G	EVA1C_ENST00000382699.3_Missense_Mutation_p.V154G|EVA1C_ENST00000401402.3_Missense_Mutation_p.V154G	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	154	SUEL-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TACCTCCTGGTCTCCTTTAAA	0.522																																						ENST00000300255.2																			0											c.(460-462)gTc>gGc		eva-1 homolog C (C. elegans)							97.0	81.0	87.0					21																	33830008		2203	4300	6503	SO:0001583	missense	59271							g.chr21:33830008T>G	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.461T>G	21.37:g.33830008T>G	ENSP00000300255:p.Val154Gly					EVA1C_ENST00000401402.3_Missense_Mutation_p.V154G|EVA1C_ENST00000382699.3_Missense_Mutation_p.V154G	p.V154G	NM_058187.3	NP_478067.2					3	934	+								A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.461T>G	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518769	0.85495	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.89	4.89	0.63831	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.146870	0.44483	D	0.000458	T	0.72342	0.3448	H	0.97186	3.955	0.80722	D	1	D;P;P	0.89917	1.0;0.832;0.955	D;P;P	0.97110	1.0;0.546;0.757	T	0.82857	-0.0250	10	0.87932	D	0	-13.1183	14.528	0.67902	0.0:0.0:0.0:1.0	.	154;154;154	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	G	154;154;154;59	ENSP00000300255:V154G;ENSP00000384594:V154G;ENSP00000372146:V154G;ENSP00000389269:V59G	ENSP00000300255:V154G	V	+	2	0	C21orf63	32751879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.675000	0.84002	1.823000	0.53134	0.379000	0.24179	GTC		0.522	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		20	46	0	0	0	1	0	20	46				
SPAG6	9576	broad.mit.edu	37	10	22680762	22680762	+	Silent	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr10:22680762C>T	ENST00000376624.3	+	8	1252	c.1110C>T	c.(1108-1110)caC>caT	p.H370H	SPAG6_ENST00000376603.2_Silent_p.H446H|SPAG6_ENST00000376601.1_Silent_p.H131H|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Silent_p.H370H|SPAG6_ENST00000538630.1_Silent_p.H345H|SPAG6_ENST00000490361.1_3'UTR	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	370					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTCCTGAACACGCACGGGCTG	0.453																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1336-1338)caC>caT		sperm associated antigen 6							121.0	113.0	116.0					10																	22680762		2203	4300	6503	SO:0001819	synonymous_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22680762C>T	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1110C>T	10.37:g.22680762C>T						RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Silent_p.H131H|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Silent_p.H370H|SPAG6_ENST00000313311.6_Silent_p.H370H|SPAG6_ENST00000538630.1_Silent_p.H345H	p.H446H			O75602	SPAG6_HUMAN			8	1480	+			370					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	c.1338C>T	CCDS7139.1																																																																																				0.453	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			16	34	0	0	0	1	0	16	34				
SI	6476	broad.mit.edu	37	3	164780178	164780178	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr3:164780178A>G	ENST00000264382.3	-	9	1063	c.1001T>C	c.(1000-1002)gTa>gCa	p.V334A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	334	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGTTGAACTACTTGTTCTGG	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1000-1002)gTa>gCa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						64.0	63.0	63.0					3																	164780178		2203	4296	6499	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164780178A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1001T>C	3.37:g.164780178A>G	ENSP00000264382:p.Val334Ala	HNSCC(35;0.089)					p.V334A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			9	1063	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	334			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1001T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215594	0.79352	.	.	ENSG00000090402	ENST00000264382	D	0.92397	-3.03	5.34	5.34	0.76211	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.85197	2.74	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96712	0.9526	10	0.62326	D	0.03	.	15.2958	0.73906	1.0:0.0:0.0:0.0	.	334	P14410	SUIS_HUMAN	A	334	ENSP00000264382:V334A	ENSP00000264382:V334A	V	-	2	0	SI	166262872	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	8.307000	0.89964	2.012000	0.59069	0.477000	0.44152	GTA		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	63	0	0	0	1	0	18	63				
SSPO	23145	broad.mit.edu	37	7	149515170	149515170	+	RNA	SNP	C	C	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr7:149515170C>G	ENST00000378016.2	+	0	11560							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCGTGGGCCCCGCCAGGA	0.697																																						ENST00000378016.2																			0													SCO-spondin							9.0	12.0	11.0					7																	149515170		1985	4129	6114			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515170C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515170C>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11560	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	10	0	0	0	1	0	5	10				
PPFIA4	8497	broad.mit.edu	37	1	203044811	203044811	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:203044811C>T	ENST00000447715.2	+	34	3875	c.3434C>T	c.(3433-3435)cCg>cTg	p.P1145L	PPFIA4_ENST00000414050.2_Missense_Mutation_p.P874L|PPFIA4_ENST00000367240.2_Missense_Mutation_p.P1146L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P652L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P661L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P652L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1145					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGACCCTCCCGGCGGGCTTC	0.706																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3436-3438)cCg>cTg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							8.0	11.0	10.0					1																	203044811		1838	4045	5883	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203044811C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3434C>T	1.37:g.203044811C>T	ENSP00000402576:p.Pro1145Leu					PPFIA4_ENST00000414050.2_Missense_Mutation_p.P874L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P652L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P652L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P661L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P1145L	p.P1146L			O75335	LIPA4_HUMAN			28	3964	+			661					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.3437C>T		.	.	.	.	.	.	.	.	.	.	c	36	5.680739	0.96774	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.33865	1.81;1.54;1.44;1.47;1.39	4.99	4.99	0.66335	.	0.000000	0.40222	U	0.001149	T	0.62196	0.2408	M	0.76574	2.34	0.80722	D	1	P;D;D;D;P	0.89917	0.874;1.0;1.0;1.0;0.57	B;D;D;D;B	0.97110	0.334;1.0;0.999;0.997;0.087	T	0.66114	-0.6004	10	0.59425	D	0.04	-26.4974	18.2991	0.90157	0.0:1.0:0.0:0.0	.	874;1145;347;652;661	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	L	1146;1145;652;874;661	ENSP00000356209:P1146L;ENSP00000402576:P1145L;ENSP00000295706:P652L;ENSP00000400379:P874L;ENSP00000272198:P661L	ENSP00000272198:P661L	P	+	2	0	PPFIA4	201311434	1.000000	0.71417	0.969000	0.41365	0.952000	0.60782	7.480000	0.81109	2.303000	0.77524	0.450000	0.29827	CCG		0.706	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		6	9	0	0	0	1	0	6	9				
ZNF449	203523	broad.mit.edu	37	X	134483099	134483099	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:134483099C>A	ENST00000339249.4	+	3	559	c.419C>A	c.(418-420)aCc>aAc	p.T140N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	140					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(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATACCACCAACCATGCACCTA	0.567																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(418-420)aCc>aAc		zinc finger protein 449							233.0	181.0	198.0					X																	134483099		2203	4300	6503	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134483099C>A	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.419C>A	X.37:g.134483099C>A	ENSP00000339585:p.Thr140Asn						p.T140N	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			3	559	+	Acute lymphoblastic leukemia(192;6.56e-05)		140					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.419C>A	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	0.115	-1.133640	0.01756	.	.	ENSG00000173275	ENST00000339249	T	0.05447	3.44	4.61	2.24	0.28232	.	0.798993	0.10559	N	0.660541	T	0.02119	0.0066	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48714	-0.9011	10	0.13470	T	0.59	.	3.9783	0.09484	0.6591:0.2264:0.1145:0.0	.	140	Q6P9G9	ZN449_HUMAN	N	140	ENSP00000339585:T140N	ENSP00000339585:T140N	T	+	2	0	ZNF449	134310765	0.000000	0.05858	0.002000	0.10522	0.992000	0.81027	0.418000	0.21230	0.359000	0.24239	-0.315000	0.08773	ACC		0.567	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		64	150	1	0	5.5144e-22	1	6.95045e-22	64	150				
NFE2L2	4780	broad.mit.edu	37	2	178098975	178098975	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr2:178098975A>G	ENST00000397062.3	-	2	624	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R	NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W24R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTGCCTCCAAAGTATGTCA	0.348			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		2	Substitution - Missense(2)	p.W24R(2)	urinary_tract(1)|oesophagus(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(70-72)Tgg>Cgg		nuclear factor, erythroid 2-like 2							54.0	48.0	50.0					2																	178098975		1840	4093	5933	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098975A>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.70T>C	2.37:g.178098975A>G	ENSP00000380252:p.Trp24Arg	HNSCC(56;0.16)				NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R	p.W24R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	624	-			24					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.70T>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728249	0.69074	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69461	-0.5139	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	8;8;8;24	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	R	8;24;8;8;8;8;8	ENSP00000380253:W8R;ENSP00000380252:W24R;ENSP00000411575:W8R;ENSP00000391590:W8R;ENSP00000400073:W8R;ENSP00000412191:W8R;ENSP00000410015:W8R	ENSP00000380252:W24R	W	-	1	0	NFE2L2	177807221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	TGG		0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		38	12	0	0	0	1	0	38	12				
WIPF2	147179	broad.mit.edu	37	17	38412764	38412764	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:38412764C>T	ENST00000323571.4	+	2	293	c.53C>T	c.(52-54)aCa>aTa	p.T18I	WIPF2_ENST00000585043.1_Missense_Mutation_p.T18I|WIPF2_ENST00000536600.1_Missense_Mutation_p.T18I|WIPF2_ENST00000394103.3_Missense_Mutation_p.T18I|WIPF2_ENST00000583130.1_Missense_Mutation_p.T18I|WIPF2_ENST00000494757.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	18					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCTCCCACATTTCATCAG	0.468										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(52-54)aCa>aTa		WAS/WASL interacting protein family, member 2							93.0	84.0	87.0					17																	38412764		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38412764C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.53C>T	17.37:g.38412764C>T	ENSP00000320924:p.Thr18Ile	HNSCC(43;0.11)				WIPF2_ENST00000585043.1_Missense_Mutation_p.T18I|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000536600.1_Missense_Mutation_p.T18I|WIPF2_ENST00000394103.3_Missense_Mutation_p.T18I|WIPF2_ENST00000583130.1_Missense_Mutation_p.T18I	p.T18I	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			2	293	+			18					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.53C>T	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152542	0.78001	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.47869	1.26;0.83;0.83	5.98	4.99	0.66335	.	0.117488	0.56097	D	0.000026	T	0.65903	0.2736	L	0.58810	1.83	0.21861	N	0.999507	D;D	0.71674	0.995;0.998	D;D	0.80764	0.969;0.994	T	0.62647	-0.6810	10	0.87932	D	0	-1.5821	16.665	0.85250	0.0:0.87:0.13:0.0	.	18;18	A8MWR2;Q8TF74	.;WIPF2_HUMAN	I	18	ENSP00000320924:T18I;ENSP00000377663:T18I;ENSP00000439175:T18I	ENSP00000320924:T18I	T	+	2	0	WIPF2	35666290	0.997000	0.39634	0.994000	0.49952	0.866000	0.49608	2.258000	0.43249	1.484000	0.48361	0.591000	0.81541	ACA		0.468	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		33	57	0	0	0	1	0	33	57				
ICAM1	3383	broad.mit.edu	37	19	10385558	10385558	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:10385558C>T	ENST00000264832.3	+	2	510	c.185C>T	c.(184-186)aCc>aTc	p.T62I	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	62	Ig-like C2-type 1.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GGCATAGAGACCCCGTTGCCT	0.537																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(184-186)aCc>aTc		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						104.0	99.0	101.0					19																	10385558		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385558C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.185C>T	19.37:g.10385558C>T	ENSP00000264832:p.Thr62Ile					ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	p.T62I	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	510	+			62			Ig-like C2-type 1.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.185C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016236	0.35606	.	.	ENSG00000090339	ENST00000264832	T	0.26810	1.71	4.56	3.53	0.40419	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.555807	0.17072	N	0.188122	T	0.41581	0.1165	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.65010	0.931	T	0.24657	-1.0154	10	0.66056	D	0.02	-9.8369	8.7147	0.34403	0.0:0.8975:0.0:0.1025	.	62	P05362	ICAM1_HUMAN	I	62	ENSP00000264832:T62I	ENSP00000264832:T62I	T	+	2	0	ICAM1	10246558	0.935000	0.31712	0.807000	0.32361	0.012000	0.07955	1.891000	0.39738	1.294000	0.44707	0.655000	0.94253	ACC		0.537	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			42	86	0	0	0	1	0	42	86				
HRAS	3265	broad.mit.edu	37	11	533552	533552	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr11:533552C>A	ENST00000451590.1	-	4	538	c.351G>T	c.(349-351)aaG>aaT	p.K117N	HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000417302.1_Missense_Mutation_p.K117N|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGTCACACTTGTTCCCCA	0.632		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		3	Substitution - Missense(3)	p.K117N(3)	urinary_tract(2)|thyroid(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(349-351)aaG>aaT		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						199.0	177.0	184.0					11																	533552		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533552C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.351G>T	11.37:g.533552C>A	ENSP00000407586:p.Lys117Asn	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000451590.1_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N	p.K117N	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	538	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	117		K -> R (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.351G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494433	0.64186	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.08	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	H	0.99951	5.03	0.80722	D	1	D;D	0.57257	0.979;0.966	P;P	0.57204	0.815;0.759	D	0.92778	0.6238	10	0.87932	D	0	.	6.1696	0.20410	0.0:0.5874:0.0:0.4125	.	117;117	P01112-2;P01112	.;RASH_HUMAN	N	117	ENSP00000380722:K117N;ENSP00000380723:K117N;ENSP00000407586:K117N;ENSP00000388246:K117N;ENSP00000309845:K117N	ENSP00000309845:K117N	K	-	3	2	HRAS	523552	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	0.073000	0.14640	0.831000	0.34780	0.561000	0.74099	AAG		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		74	127	1	0	1.15074e-40	1	1.4972e-40	74	127				
CSMD3	114788	broad.mit.edu	37	8	113275944	113275944	+	Silent	SNP	G	G	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr8:113275944G>C	ENST00000297405.5	-	61	10030	c.9786C>G	c.(9784-9786)ggC>ggG	p.G3262G	CSMD3_ENST00000343508.3_Silent_p.G3222G|CSMD3_ENST00000352409.3_Silent_p.G3192G|CSMD3_ENST00000455883.2_Silent_p.G3093G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3262	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGCTCATAGCCTGGAGAAC	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9784-9786)ggC>ggG		CUB and Sushi multiple domains 3							107.0	90.0	96.0					8																	113275944		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113275944G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9786C>G	8.37:g.113275944G>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.G3093G|CSMD3_ENST00000352409.3_Silent_p.G3192G|CSMD3_ENST00000343508.3_Silent_p.G3222G	p.G3262G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			61	10030	-			3262			Sushi 25.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9786C>G	CCDS6315.1																																																																																				0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	60	0	0	0	1	0	8	60				
ZNF420	147923	broad.mit.edu	37	19	37618388	37618388	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:37618388A>C	ENST00000337995.3	+	5	710	c.495A>C	c.(493-495)aaA>aaC	p.K165N	ZNF420_ENST00000304239.7_Missense_Mutation_p.K165N|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGTGAAAAACCCTATGAAT	0.423																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(493-495)aaA>aaC		zinc finger protein 420							65.0	64.0	64.0					19																	37618388		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618388A>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.495A>C	19.37:g.37618388A>C	ENSP00000338770:p.Lys165Asn					ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.K165N	p.K165N	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	710	+			165					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.495A>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719704	0.48728	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.26067	1.76;1.76	3.53	0.205	0.15204	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46190	0.1380	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34304	-0.9834	9	0.72032	D	0.01	.	6.5838	0.22610	0.6565:0.0:0.3435:0.0	.	165	Q8TAQ5	ZN420_HUMAN	N	165	ENSP00000306102:K165N;ENSP00000338770:K165N	ENSP00000306102:K165N	K	+	3	2	ZNF420	42310228	0.630000	0.27155	0.997000	0.53966	0.998000	0.95712	0.303000	0.19210	-0.241000	0.09681	0.528000	0.53228	AAA		0.423	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		28	54	0	0	0	1	0	28	54				
OR4D5	219875	broad.mit.edu	37	11	123810742	123810742	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr11:123810742T>A	ENST00000307033.2	+	1	493	c.419T>A	c.(418-420)gTc>gAc	p.V140D		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AATCAGACTGTCTGTGCACTC	0.522																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(418-420)gTc>gAc		olfactory receptor, family 4, subfamily D, member 5							111.0	98.0	102.0					11																	123810742		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810742T>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.419T>A	11.37:g.123810742T>A	ENSP00000305970:p.Val140Asp						p.V140D	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	493	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	140					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.419T>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909139	0.33721	.	.	ENSG00000171014	ENST00000307033	T	0.00227	8.5	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.158215	0.29002	N	0.013443	T	0.00524	0.0017	M	0.92268	3.29	0.40149	D	0.976926	P	0.42993	0.797	P	0.51324	0.666	T	0.59257	-0.7488	10	0.72032	D	0.01	-8.9494	8.6074	0.33782	0.0:0.12:0.0:0.88	.	140	Q8NGN0	OR4D5_HUMAN	D	140	ENSP00000305970:V140D	ENSP00000305970:V140D	V	+	2	0	OR4D5	123315952	0.013000	0.17824	0.956000	0.39512	0.099000	0.18886	1.966000	0.40481	2.082000	0.62665	0.533000	0.62120	GTC		0.522	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		21	106	0	0	0	1	0	21	106				
NOTCH3	4854	broad.mit.edu	37	19	15308354	15308354	+	Nonsense_Mutation	SNP	C	C	A	rs148166997		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:15308354C>A	ENST00000263388.2	-	2	229	c.154G>T	c.(154-156)Gga>Tga	p.G52*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	52	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAACGACCTCCATTTGCACAC	0.687																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(154-156)Gga>Tga		notch 3							26.0	27.0	27.0					19																	15308354		2202	4300	6502	SO:0001587	stop_gained	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15308354C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.154G>T	19.37:g.15308354C>A	ENSP00000263388:p.Gly52*						p.G52*	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		2	229	-			52			EGF-like 1.		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	ENST00000263388.2	37	c.154G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	36	5.865700	0.97043	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3312	0.49477	0.0:1.0:0.0:0.0	.	.	.	.	X	52;54	.	ENSP00000263388:G52X	G	-	1	0	NOTCH3	15169354	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.084000	0.41625	2.136000	0.66102	0.561000	0.74099	GGA		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	7	1	0	0.0215528	1	0.0222896	6	7				
RPL12P38	645688	broad.mit.edu	37	17	58512431	58512431	+	RNA	SNP	T	T	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:58512431T>A	ENST00000588627.1	-	0	926									ribosomal protein L12 pseudogene 38																		AAAAAAAAAGTAAAATAAAAT	0.323																																						ENST00000588627.1																			0																																																			645688							g.chr17:58512431T>A			17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512431T>A														0	926	-									RNA	SNP	ENST00000588627.1	37																																																																																						0.323	RPL12P38-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000449464.1	NG_010298		5	17	0	0	0	1	0	5	17				
SLC24A2	25769	broad.mit.edu	37	9	19576921	19576921	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr9:19576921C>T	ENST00000341998.2	-	5	1290		c.e5+1		SLC24A2_ENST00000286344.3_Splice_Site	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2						cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTGCACTCACCCACGTGGTT	0.557																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e5+1		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							194.0	151.0	166.0					9																	19576921		2203	4300	6503	SO:0001630	splice_region_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19576921C>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1228+1G>A	9.37:g.19576921C>T						SLC24A2_ENST00000286344.3_Splice_Site		NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	5	1290	-								B7ZLL8|Q9NTN5|Q9NZQ4	Splice_Site	SNP	ENST00000341998.2	37		CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586193	0.66105	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8625	0.92278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC24A2	19566921	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	6.516000	0.73755	2.755000	0.94549	0.591000	0.81541	.		0.557	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	Intron	22	30	0	0	0	1	0	22	30				
CYP4Z2P	163720	broad.mit.edu	37	1	47364534	47364534	+	RNA	SNP	C	C	A	rs548301589		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:47364534C>A	ENST00000505841.1	-	0	302					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TCAGGAGAATCTTGACATAGT	0.478																																						ENST00000505841.1																			0																																																			163720							g.chr1:47364534C>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47364534C>A								NR_002788.2						0	302	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.478	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		19	46	1	0	5.3912e-06	1	5.93032e-06	19	46				
DNAH1	25981	broad.mit.edu	37	3	52417474	52417474	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr3:52417474G>A	ENST00000420323.2	+	51	8275	c.8014G>A	c.(8014-8016)Gcg>Acg	p.A2672T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4. {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)		TCTGTATACTGCGGACGAGCA	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8014-8016)Gcg>Acg		dynein, axonemal, heavy chain 1							83.0	82.0	82.0					3																	52417474		2019	4178	6197	SO:0001583	missense	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.chr3:52417474G>A	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.8014G>A	3.37:g.52417474G>A	ENSP00000401514:p.Ala2672Thr						p.A2672T	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)	51	8275	+			2672			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8014G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	5.352	0.250262	0.10130	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.87	-9.74	0.00509	.	3.650830	0.00976	N	0.003318	T	0.19886	0.0478	N	0.13198	0.31	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.10823	-1.0613	10	0.14252	T	0.57	.	5.6609	0.17668	0.2331:0.2975:0.4004:0.069	.	2672	C9JXH6	.	T	2672	ENSP00000401514:A2672T	ENSP00000401514:A2672T	A	+	1	0	DNAH1	52392514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	-2.477000	0.00525	-0.136000	0.14681	GCG		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		13	25	0	0	0	1	0	13	25				
BDKRB1	623	broad.mit.edu	37	14	96730375	96730375	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr14:96730375C>G	ENST00000216629.6	+	3	962	c.356C>G	c.(355-357)gCc>gGc	p.A119G	BDKRB1_ENST00000553356.1_Missense_Mutation_p.A119G|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	119					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GTCATCAAGGCCAATTTGTTC	0.592																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(355-357)gCc>gGc		bradykinin receptor B1							79.0	77.0	77.0					14																	96730375		2203	4300	6503	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730375C>G	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.356C>G	14.37:g.96730375C>G	ENSP00000216629:p.Ala119Gly					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.A119G	p.A119G	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	962	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	119					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.356C>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089910	0.76756	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.72835	-0.69;-0.69	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.376407	0.25291	N	0.031737	T	0.77758	0.4178	L	0.56769	1.78	0.38213	D	0.940543	D;D	0.61697	0.988;0.99	P;D	0.64877	0.885;0.93	T	0.80540	-0.1337	10	0.66056	D	0.02	-20.8454	8.0088	0.30340	0.0:0.8272:0.0:0.1728	.	119;119	G3V4Y2;P46663	.;BKRB1_HUMAN	G	119	ENSP00000216629:A119G;ENSP00000452064:A119G	ENSP00000216629:A119G	A	+	2	0	BDKRB1	95800128	0.786000	0.28738	1.000000	0.80357	0.832000	0.47134	3.995000	0.57001	2.589000	0.87451	0.555000	0.69702	GCC		0.592	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			28	118	0	0	0	1	0	28	118				
NLRP8	126205	broad.mit.edu	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498																																						ENST00000291971.3																			1	Substitution - Missense(1)	p.V428I(1)	kidney(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1282-1284)Gtc>Atc		NLR family, pyrin domain containing 8							88.0	90.0	90.0					19																	56466706		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466706G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1282G>A	19.37:g.56466706G>A	ENSP00000291971:p.Val428Ile					NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1353	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	428			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1282G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.360	-0.346884	0.05208	.	.	ENSG00000179709	ENST00000291971	D	0.83419	-1.72	1.78	-1.96	0.07525	.	.	.	.	.	T	0.63628	0.2527	L	0.27053	0.805	0.09310	N	1	P;P	0.47762	0.9;0.573	B;B	0.35278	0.199;0.177	T	0.56553	-0.7960	9	0.29301	T	0.29	.	5.2449	0.15490	0.6082:0.0:0.3918:0.0	.	428;428	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	428	ENSP00000291971:V428I	ENSP00000291971:V428I	V	+	1	0	NLRP8	61158518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.089000	0.15002	-0.472000	0.06881	-0.346000	0.07831	GTC		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		45	65	0	0	0	1	0	45	65				
KCTD12	115207	broad.mit.edu	37	13	77459494	77459494	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr13:77459494C>T	ENST00000377474.2	-	1	1031	c.790G>A	c.(790-792)Gag>Aag	p.E264K	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Missense_Mutation_p.E264K	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	264					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GTGTAGCGCTCCGGGGGACGG	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377474.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(790-792)Gag>Aag		potassium channel tetramerization domain containing 12							37.0	32.0	33.0					13																	77459494		2203	4300	6503	SO:0001583	missense	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77459494C>T	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.790G>A	13.37:g.77459494C>T	ENSP00000366694:p.Glu264Lys		OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1175	KCTD12_ENST00000317765.2_Missense_Mutation_p.E264K	p.E264K	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	1031	-		Breast(118;0.212)	264						Missense_Mutation	SNP	ENST00000377474.2	37	c.790G>A	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293149	0.95546	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.50001	0.76;0.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.75085	2.285	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.70766	-0.4783	10	0.56958	D	0.05	.	17.9207	0.88965	0.0:1.0:0.0:0.0	.	264	Q96CX2	KCD12_HUMAN	K	264	ENSP00000366694:E264K;ENSP00000317141:E264K	ENSP00000317141:E264K	E	-	1	0	KCTD12	76357495	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.582000	0.82546	2.399000	0.81585	0.462000	0.41574	GAG		0.637	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		11	20	0	0	0	1	0	11	20				
LOC100128164	100128164	broad.mit.edu	37	3	169663566	169663566	+	RNA	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr3:169663566C>T	ENST00000487580.1	-	0	263				RP11-379K17.4_ENST00000483289.2_RNA																							TACTGTAAAACGGGAGAAAAG	0.413																																						ENST00000483289.2																			0																																																			100128164							g.chr3:169663566C>T																													3.37:g.169663566C>T						RP11-379K17.4_ENST00000487580.1_RNA		NR_027622.1						0	3728	-									RNA	SNP	ENST00000487580.1	37																																																																																						0.413	RP11-379K17.4-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000351957.1			10	31	0	0	0	1	0	10	31				
GJC1	10052	broad.mit.edu	37	17	42882006	42882006	+	Missense_Mutation	SNP	C	C	T	rs146820007	byFrequency	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:42882006C>T	ENST00000426548.1	-	3	1449	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	GJC1_ENST00000592524.1_Missense_Mutation_p.V394I|GJC1_ENST00000330514.4_Missense_Mutation_p.V394I|GJC1_ENST00000590758.1_Missense_Mutation_p.V394I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	394					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TAAATCCAGACGGAGGTCTTC	0.488																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(1180-1182)Gtc>Atc		gap junction protein, gamma 1, 45kDa		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	105.0	102.0	103.0		1180,1180	5.4	1.0	17	dbSNP_134	103	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	GJC1	NM_001080383.1,NM_005497.3	29,29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging,probably-damaging	394/397,394/397	42882006	5,13001	2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882006C>T	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.1180G>A	17.37:g.42882006C>T	ENSP00000411528:p.Val394Ile					GJC1_ENST00000590758.1_Missense_Mutation_p.V394I|GJC1_ENST00000330514.4_Missense_Mutation_p.V394I|GJC1_ENST00000592524.1_Missense_Mutation_p.V394I	p.V394I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	1449	-		Prostate(33;0.0959)	394					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.1180G>A	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391828	0.83011	0.0	5.81E-4	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98249	-4.82;-4.82	5.42	5.42	0.78866	.	0.545466	0.16895	N	0.195156	D	0.98295	0.9435	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	P	0.59288	0.855	D	0.99013	1.0815	10	0.56958	D	0.05	.	18.205	0.89852	0.0:1.0:0.0:0.0	.	394	P36383	CXG1_HUMAN	I	394	ENSP00000411528:V394I;ENSP00000333193:V394I	ENSP00000333193:V394I	V	-	1	0	GJC1	40237532	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.549000	0.85964	0.655000	0.94253	GTC		0.488	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		36	81	0	0	0	1	0	36	81				
PCLO	27445	broad.mit.edu	37	7	82595332	82595332	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr7:82595332C>T	ENST00000333891.9	-	4	4109	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1258K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTGTTCTTCTGGGGCTGAT	0.413																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3772-3774)Gaa>Aaa		piccolo presynaptic cytomatrix protein							244.0	241.0	242.0					7																	82595332		1859	4095	5954	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595332C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3772G>A	7.37:g.82595332C>T	ENSP00000334319:p.Glu1258Lys					PCLO_ENST00000333891.8_Missense_Mutation_p.E1258K	p.E1258K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4109	-			1197						Missense_Mutation	SNP	ENST00000333891.9	37	c.3772G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035471	0.35893	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.33	4.53	2.7	0.31948	.	.	.	.	.	T	0.16428	0.0395	L	0.29908	0.895	0.80722	D	1	P;P	0.45531	0.86;0.86	P;P	0.44561	0.453;0.453	T	0.04029	-1.0983	9	0.87932	D	0	.	13.659	0.62354	0.0:0.666:0.334:0.0	.	1258;1258	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1197;1258;1258	ENSP00000334319:E1258K;ENSP00000388393:E1258K	ENSP00000334319:E1258K	E	-	1	0	PCLO	82433268	0.020000	0.18652	0.636000	0.29352	0.063000	0.16089	2.190000	0.42630	0.812000	0.34326	-0.176000	0.13171	GAA		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		71	151	0	0	0	1	0	71	151				
SLC9B2	133308	broad.mit.edu	37	4	103947745	103947745	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr4:103947745C>A	ENST00000394785.3	-	12	2027	c.1396G>T	c.(1396-1398)Gca>Tca	p.A466S	SLC9B2_ENST00000503230.1_Missense_Mutation_p.A409S|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.A466S|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C363F	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	466					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GATCCTATTGCAGCCTATAAA	0.353																																						ENST00000394785.3																			0											c.(1396-1398)Gca>Tca		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							92.0	91.0	91.0					4																	103947745		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947745C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1396G>T	4.37:g.103947745C>A	ENSP00000378265:p.Ala466Ser					SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C363F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.A466S|SLC9B2_ENST00000503230.1_Missense_Mutation_p.A409S	p.A466S	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			12	2027	-			466					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1396G>T	CCDS3662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.620384|4.620384	0.87460|0.87460	.|.	.|.	ENSG00000164038|ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230|ENST00000503103	T;T;T|T	0.21543|0.22539	2.0;2.0;2.0|1.95	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49609|0.49609	0.1567|0.1567	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.62365	0.996;1.0|0.991	D;D|D	0.91635|0.66847	0.974;0.999|0.947	T|T	0.52177|0.52177	-0.8610|-0.8610	10|9	0.36615|0.13108	T|T	0.2|0.6	-21.0406|-21.0406	18.8145|18.8145	0.92072|0.92072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	409;466|363	E9PE63;Q86UD5|B7Z676	.;SL9B2_HUMAN|.	S|F	466;466;409|363	ENSP00000354574:A466S;ENSP00000378265:A466S;ENSP00000422477:A409S|ENSP00000425385:C363F	ENSP00000354574:A466S|ENSP00000425385:C363F	A|C	-|-	1|2	0|0	SLC9B2|SLC9B2	104167194|104167194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.957000|6.957000	0.76019|0.76019	2.414000|2.414000	0.81942|0.81942	0.585000|0.585000	0.79938|0.79938	GCA|TGC		0.353	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		30	48	1	0	3.65163e-15	1	4.41847e-15	30	48				
NCOA6	23054	broad.mit.edu	37	20	33337511	33337511	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr20:33337511G>A	ENST00000374796.2	-	10	5057	c.2487C>T	c.(2485-2487)gtC>gtT	p.V829V	NCOA6_ENST00000359003.2_Silent_p.V829V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	829	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATGAGGGGGGACCATGTTGG	0.502																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2485-2487)gtC>gtT		nuclear receptor coactivator 6							119.0	109.0	112.0					20																	33337511		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337511G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2487C>T	20.37:g.33337511G>A						NCOA6_ENST00000359003.2_Silent_p.V829V	p.V829V			Q14686	NCOA6_HUMAN			10	5057	-			829			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.2487C>T	CCDS13241.1																																																																																				0.502	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		133	116	0	0	0	1	0	133	116				
SYCN	342898	broad.mit.edu	37	19	39694790	39694790	+	Silent	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:39694790C>T	ENST00000318438.6	-	1	116	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	35					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCAAGTGCGCGTCCCGTCCG	0.716																																						ENST00000318438.6																			0				endometrium(1)|kidney(1)	2						c.(103-105)acG>acA		syncollin							20.0	23.0	22.0					19																	39694790		2004	4157	6161	SO:0001819	synonymous_variant	342898				exocytosis	transport vesicle membrane		g.chr19:39694790C>T	BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"""insulin synthesis associated 1"""	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.105G>A	19.37:g.39694790C>T							p.T35T	NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	116	-	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		35						Silent	SNP	ENST00000318438.6	37	c.105G>A	CCDS46070.1																																																																																				0.716	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463830.1			18	27	0	0	0	1	0	18	27				
LRFN5	145581	broad.mit.edu	37	14	42360793	42360793	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr14:42360793G>C	ENST00000298119.4	+	4	2915	c.1726G>C	c.(1726-1728)Gct>Cct	p.A576P	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	576						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTAACGGGGCTCAAATACA	0.453										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1726-1728)Gct>Cct		leucine rich repeat and fibronectin type III domain containing 5							99.0	92.0	94.0					14																	42360793		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360793G>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1726G>C	14.37:g.42360793G>C	ENSP00000298119:p.Ala576Pro	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.A576P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2915	+			576					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1726G>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487255	0.44249	.	.	ENSG00000165379	ENST00000298119	T	0.50813	0.73	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000044	T	0.29556	0.0737	N	0.08118	0	0.80722	D	1	P	0.44478	0.836	B	0.40864	0.342	T	0.15464	-1.0436	10	0.49607	T	0.09	.	12.3916	0.55362	0.0:0.0:0.8319:0.1681	.	576	Q96NI6	LRFN5_HUMAN	P	576	ENSP00000298119:A576P	ENSP00000298119:A576P	A	+	1	0	LRFN5	41430543	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.777000	0.55364	2.716000	0.92895	0.650000	0.86243	GCT		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		19	100	0	0	0	1	0	19	100				
WFIKKN1	117166	broad.mit.edu	37	16	682656	682656	+	Silent	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr16:682656C>A	ENST00000319070.2	+	2	568	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	82					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GCTTCCCCGGCAGCCCAGCTG	0.677																																						ENST00000319070.2																			0				breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(244-246)ggC>ggA		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1							18.0	20.0	19.0					16																	682656		2171	4286	6457	SO:0001819	synonymous_variant	117166					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr16:682656C>A	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.246C>A	16.37:g.682656C>A							p.G82G	NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN			2	568	+		Hepatocellular(780;0.00335)	82					Q7LDW0|Q8NBQ1|Q96S20	Silent	SNP	ENST00000319070.2	37	c.246C>A	CCDS10414.1																																																																																				0.677	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		7	17	1	0	8.12818e-05	1	8.86045e-05	7	17				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	22	0	0	0	1	0	3	22				
ADNP2	22850	broad.mit.edu	37	18	77895068	77895068	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr18:77895068C>A	ENST00000262198.4	+	4	2227	c.1772C>A	c.(1771-1773)aCc>aAc	p.T591N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	591					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGAACACCACCTTCCTGACA	0.552																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1771-1773)aCc>aAc		ADNP homeobox 2							104.0	99.0	101.0					18																	77895068		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895068C>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1772C>A	18.37:g.77895068C>A	ENSP00000262198:p.Thr591Asn						p.T591N	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2227	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	591					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1772C>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657643	0.47467	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000015	T	0.48750	0.1517	L	0.27053	0.805	0.32852	D	0.506764	D	0.57571	0.98	P	0.53649	0.731	T	0.55256	-0.8169	8	.	.	.	-20.4587	18.19	0.89804	0.0:1.0:0.0:0.0	.	591	Q6IQ32	ADNP2_HUMAN	N	591	.	.	T	+	2	0	ADNP2	75996059	0.731000	0.28111	0.974000	0.42286	0.839000	0.47603	3.444000	0.52914	2.537000	0.85549	0.650000	0.86243	ACC		0.552	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		22	16	1	0	5.26018e-13	1	6.3018e-13	22	16				
ESYT1	23344	broad.mit.edu	37	12	56528147	56528147	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr12:56528147C>T	ENST00000394048.5	+	15	1831	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	ESYT1_ENST00000541590.1_Missense_Mutation_p.P533S|ESYT1_ENST00000267113.4_Missense_Mutation_p.P533S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	523	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TACCAACTGCCCAGTGTGGGA	0.512																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1567-1569)Cca>Tca		extended synaptotagmin-like protein 1							190.0	173.0	179.0					12																	56528147		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56528147C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1567C>T	12.37:g.56528147C>T	ENSP00000377612:p.Pro523Ser					ESYT1_ENST00000267113.4_Missense_Mutation_p.P533S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P533S	p.P523S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			15	1831	+			523			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1567C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733702	0.89482	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.93076	-3.16;-3.16;-3.16	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050191	0.85682	N	0.000000	D	0.97430	0.9159	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	D	0.98111	1.0420	10	0.72032	D	0.01	-14.7024	16.2109	0.82158	0.0:1.0:0.0:0.0	.	533;523	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	523;477;533;533	ENSP00000377612:P523S;ENSP00000267113:P533S;ENSP00000445952:P533S	ENSP00000267113:P533S	P	+	1	0	ESYT1	54814414	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	6.127000	0.71642	2.633000	0.89246	0.655000	0.94253	CCA		0.512	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		34	78	0	0	0	1	0	34	78				
TMTC2	160335	broad.mit.edu	37	12	83289634	83289634	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr12:83289634T>A	ENST00000321196.3	+	3	1399	c.692T>A	c.(691-693)tTa>tAa	p.L231*	TMTC2_ENST00000548305.1_Nonsense_Mutation_p.L231*|TMTC2_ENST00000549919.1_Nonsense_Mutation_p.L225*	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	231					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATTAGTTTGTTAATTTTCTGG	0.433																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(673-675)tTa>tAa		transmembrane and tetratricopeptide repeat containing 2							127.0	127.0	127.0					12																	83289634		2203	4300	6503	SO:0001587	stop_gained	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289634T>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.692T>A	12.37:g.83289634T>A	ENSP00000322300:p.Leu231*					TMTC2_ENST00000321196.3_Nonsense_Mutation_p.L231*|TMTC2_ENST00000548305.1_Nonsense_Mutation_p.L231*	p.L225*			Q8N394	TMTC2_HUMAN			4	2479	+			231					B2RCU7|Q8N2K8	Nonsense_Mutation	SNP	ENST00000321196.3	37	c.674T>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	44	11.176993	0.99526	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	.	.	.	5.84	4.7	0.59300	.	0.065106	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3779	11.3217	0.49426	0.0:0.0704:0.0:0.9296	.	.	.	.	X	231;231;225	.	ENSP00000322300:L231X	L	+	2	0	TMTC2	81813765	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.967000	0.70403	2.231000	0.72958	0.533000	0.62120	TTA		0.433	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		48	73	0	0	0	1	0	48	73				
ZNF667	63934	broad.mit.edu	37	19	56953521	56953521	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:56953521A>C	ENST00000504904.3	-	7	1562	c.843T>G	c.(841-843)caT>caG	p.H281Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.H281Q|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.H409Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATTATATTTATGTGTTTTCT	0.368																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(841-843)caT>caG		zinc finger protein 667							61.0	67.0	65.0					19																	56953521		2200	4295	6495	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953521A>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.843T>G	19.37:g.56953521A>C	ENSP00000439402:p.His281Gln					ZNF667_ENST00000342634.3_Missense_Mutation_p.H409Q|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.H281Q	p.H281Q			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1562	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	281					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.843T>G	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	A	4.374	0.069035	0.08436	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.29142	1.58;1.58;1.58	5.05	-7.62	0.01294	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150856	0.30969	N	0.008520	T	0.22820	0.0551	L	0.46157	1.445	0.09310	N	1	B;B	0.18013	0.025;0.014	B;B	0.15870	0.008;0.014	T	0.03344	-1.1046	10	0.87932	D	0	-2.1177	15.3665	0.74526	0.1754:0.0:0.7166:0.1081	.	409;281	E7EPS0;Q5HYK9	.;ZN667_HUMAN	Q	409;281;281;63	ENSP00000344699:H409Q;ENSP00000439402:H281Q;ENSP00000292069:H281Q	ENSP00000292069:H281Q	H	-	3	2	ZNF667	61645333	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.698000	0.01908	-1.787000	0.01268	-0.326000	0.08463	CAT		0.368	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		39	95	0	0	0	1	0	39	95				
PRB1	5542	broad.mit.edu	37	12	11506882	11506882	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr12:11506882G>T	ENST00000500254.2	-	3	192	c.155C>A	c.(154-156)cCt>cAt	p.P52H	PRB1_ENST00000546254.1_Missense_Mutation_p.P52H|PRB1_ENST00000545626.1_Missense_Mutation_p.P52H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGGTGGGGGGCC	0.582																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(154-156)cCt>cAt		proline-rich protein BstNI subfamily 1							103.0	129.0	120.0					12																	11506882		2160	4267	6427	SO:0001583	missense	5542					extracellular region		g.chr12:11506882G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.155C>A	12.37:g.11506882G>T	ENSP00000420826:p.Pro52His					PRB1_ENST00000546254.1_Missense_Mutation_p.P52H|PRB1_ENST00000545626.1_Missense_Mutation_p.P52H	p.P52H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	192	-			235					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.155C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	6.736	0.504581	0.12822	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04758	3.56;3.56;3.56	1.45	0.459	0.16678	.	.	.	.	.	T	0.09642	0.0237	M	0.70903	2.155	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.52514	0.701;0.701;0.701	T	0.23013	-1.0200	9	0.87932	D	0	.	2.037	0.03542	0.2031:0.0:0.4763:0.3206	.	59;52;52	Q86YA1;G3V1R1;G3V1M9	.;.;.	H	52	ENSP00000444249:P52H;ENSP00000420826:P52H;ENSP00000442127:P52H	ENSP00000420826:P52H	P	-	2	0	PRB1	11398149	0.055000	0.20627	0.002000	0.10522	0.005000	0.04900	1.063000	0.30567	0.159000	0.19401	0.405000	0.27470	CCT		0.582	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		74	149	1	0	5.2429e-30	1	6.74884e-30	74	149				
CTH	1491	broad.mit.edu	37	1	70887340	70887340	+	Silent	SNP	A	A	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:70887340A>G	ENST00000370938.3	+	4	582	c.438A>G	c.(436-438)gcA>gcG	p.A146A	CTH_ENST00000411986.2_Silent_p.A114A|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Silent_p.A146A	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TAGAGGCAGCAATTACACCAG	0.353																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(340-342)gcA>gcG		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						118.0	125.0	123.0					1																	70887340		2203	4300	6503	SO:0001819	synonymous_variant	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70887340A>G	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.438A>G	1.37:g.70887340A>G						CTH_ENST00000370938.3_Silent_p.A146A|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Silent_p.A146A	p.A114A	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			3	540	+			146					O95791|Q9NX42	Silent	SNP	ENST00000370938.3	37	c.342A>G	CCDS650.1																																																																																				0.353	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		12	36	0	0	0	1	0	12	36				
RRP1	8568	broad.mit.edu	37	21	45217866	45217866	+	Silent	SNP	C	C	T			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr21:45217866C>T	ENST00000497547.1	+	8	813	c.696C>T	c.(694-696)ctC>ctT	p.L232L	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TTGAAGACCTCCTGAATGAAC	0.572																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(694-696)ctC>ctT		ribosomal RNA processing 1							79.0	90.0	86.0					21																	45217866		2137	4244	6381	SO:0001819	synonymous_variant	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45217866C>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.696C>T	21.37:g.45217866C>T						RRP1_ENST00000471909.1_3'UTR	p.L232L	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	8	813	+			232					A6NIB2	Silent	SNP	ENST00000497547.1	37	c.696C>T	CCDS42951.1																																																																																				0.572	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		19	32	0	0	0	1	0	19	32				
PPFIA4	8497	broad.mit.edu	37	1	203012543	203012543	+	Silent	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr1:203012543C>A	ENST00000447715.2	+	7	694	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	PPFIA4_ENST00000414050.2_5'Flank|PPFIA4_ENST00000367240.2_Silent_p.R85R|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	85					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACCTTAACCCGGGAGCTGAG	0.542																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(253-255)Cgg>Agg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							27.0	25.0	26.0					1																	203012543		876	1991	2867	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203012543C>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.253C>A	1.37:g.203012543C>A						PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.R85R	p.R85R			O75335	LIPA4_HUMAN			3	780	+			0					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.253C>A																																																																																					0.542	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		3	4	1	0	0.115264	1	0.117201	3	4				
FAM126A	84668	broad.mit.edu	37	7	22985394	22985394	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr7:22985394G>A	ENST00000432176.2	-	11	1612	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	FAM126A_ENST00000498833.1_5'Flank|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	460					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						GTGGGACTGTGACACCACTGA	0.468																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1378-1380)gtC>gtT		family with sequence similarity 126, member A							106.0	97.0	100.0					7																	22985394		2203	4300	6503	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985394G>A	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1380C>T	7.37:g.22985394G>A						FAM126A_ENST00000409923.1_3'UTR	p.V460V	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			11	1612	-			460					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1380C>T	CCDS5377.1																																																																																				0.468	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		32	76	0	0	0	1	0	32	76				
ABCA6	23460	broad.mit.edu	37	17	67102347	67102347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr17:67102347C>A	ENST00000284425.2	-	19	2569	c.2395G>T	c.(2395-2397)Gaa>Taa	p.E799*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	799					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCACTTGTTCGAAATCTATA	0.378																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2395-2397)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 6							89.0	79.0	82.0					17																	67102347		2203	4300	6503	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67102347C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2395G>T	17.37:g.67102347C>A	ENSP00000284425:p.Glu799*						p.E799*	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			19	2569	-	Breast(10;5.65e-12)		799					Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.2395G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	39	7.656490	0.98415	.	.	ENSG00000154262	ENST00000284425	.	.	.	4.74	1.58	0.23477	.	0.704134	0.12547	N	0.459410	.	.	.	.	.	.	0.35149	D	0.769609	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	8.1674	0.31235	0.0:0.7383:0.0:0.2617	.	.	.	.	X	799	.	ENSP00000284425:E799X	E	-	1	0	ABCA6	64613942	0.813000	0.29090	0.470000	0.27216	0.373000	0.29922	0.966000	0.29331	0.305000	0.22832	-0.219000	0.12488	GAA		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		10	30	1	0	7.48243e-07	1	8.38309e-07	10	30				
PAMR1	25891	broad.mit.edu	37	11	35454063	35454063	+	Silent	SNP	G	G	A			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr11:35454063G>A	ENST00000378880.2	-	11	2449	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	PAMR1_ENST00000532848.1_Silent_p.I628I|PAMR1_ENST00000278360.3_Silent_p.I685I|PAMR1_ENST00000378878.3_Silent_p.I557I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	668	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACACAGCCGCGATGCCTCCTG	0.567																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(2002-2004)atC>atT		peptidase domain containing associated with muscle regeneration 1							81.0	74.0	76.0					11																	35454063		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454063G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2004C>T	11.37:g.35454063G>A						PAMR1_ENST00000378878.3_Silent_p.I557I|PAMR1_ENST00000532848.1_Silent_p.I628I|PAMR1_ENST00000278360.3_Silent_p.I685I	p.I668I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			11	2449	-			668			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.2004C>T	CCDS31460.1																																																																																				0.567	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		32	94	0	0	0	1	0	32	94				
GPAM	57678	broad.mit.edu	37	10	113935464	113935464	+	Missense_Mutation	SNP	C	C	T	rs368640883		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr10:113935464C>T	ENST00000348367.4	-	6	504	c.307G>A	c.(307-309)Gga>Aga	p.G103R	GPAM_ENST00000369425.1_Missense_Mutation_p.G103R|GPAM_ENST00000423155.1_Missense_Mutation_p.G103R			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	103					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.G103*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GCAAGCCATCCGCGGTGTCTG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20310	0.0		0.0	False		,,,				2504	0.0				Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			1	Substitution - Nonsense(1)	p.G103*(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(307-309)Gga>Aga		glycerol-3-phosphate acyltransferase, mitochondrial		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	87.0		307	5.4	1.0	10		87	0,8600		0,0,4300	no	missense	GPAM	NM_020918.4	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	103/829	113935464	1,13005	2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113935464C>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.307G>A	10.37:g.113935464C>T	ENSP00000265276:p.Gly103Arg					GPAM_ENST00000369425.1_Missense_Mutation_p.G103R|GPAM_ENST00000423155.1_Missense_Mutation_p.G103R	p.G103R			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	6	504	-			103					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.307G>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973464	0.92919	2.27E-4	0.0	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.75260	-0.92;-0.92;-0.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87078	0.2164	10	0.62326	D	0.03	-21.0003	17.4284	0.87532	0.0:1.0:0.0:0.0	.	103;103	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	R	103	ENSP00000265276:G103R;ENSP00000409242:G103R;ENSP00000358433:G103R	ENSP00000265276:G103R	G	-	1	0	GPAM	113925454	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.935000	0.75886	2.554000	0.86153	0.650000	0.86243	GGA		0.408	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		14	49	0	0	0	1	0	14	49				
LINC01250	101927554	broad.mit.edu	37	2	2910724	2910724	+	lincRNA	DEL	C	C	-			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr2:2910724delC	ENST00000457478.1	-	0	594																											caccccctctccccagcccac	0.706																																						ENST00000457478.1																			0																																																			101927554							g.chr2:2910724delC																													2.37:g.2910724delC														0	594	-									RNA	DEL	ENST00000457478.1	37																																																																																						0.706	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187628153	187628154	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr4:187628153_187628154insC	ENST00000441802.2	-	2	3037_3038	c.2828_2829insG	c.(2827-2829)ggafs	p.G943fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	943	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGATGACGGTTCCTTCTGGAAG	0.455										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2827-2829)gacfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628153_187628154insC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2829dupG	4.37:g.187628155_187628155dupC	ENSP00000406229:p.Gly943fs	HNSCC(5;0.00058)					p.D943fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	3037_3038	-			943			Cadherin 8.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.2828_2829insG	CCDS47177.1																																																																																				0.455	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		93	147						93	147	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33283037	33283037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr6:33283037delG	ENST00000431845.2	-	2	1808	c.1657delC	c.(1657-1659)cgafs	p.R553fs	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.R553fs|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AAGCTGTCTCGCCACATGAAC	0.617																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1657-1659)gafs		zinc finger and BTB domain containing 22							63.0	63.0	63.0					6																	33283037		2203	4300	6503	SO:0001589	frameshift_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283037delG	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1657delC	6.37:g.33283037delG	ENSP00000407545:p.Arg553fs					ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.R553fs	p.R553fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1808	-			553					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	ENST00000431845.2	37	c.1657delC	CCDS4775.1																																																																																				0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			56	90						56	90	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TCCTTTGGGGatatatatatat	0.302																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75145720_75145721delAT	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145730_75145731delAT								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.302	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		3	6						3	6	---	---	---	---
CCDC26	137196	broad.mit.edu	37	8	130486240	130486241	+	lincRNA	INS	-	-	GCTTAACATG	rs34691467|rs112419261	byFrequency	TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr8:130486240_130486241insGCTTAACATG	ENST00000446592.3	-	0	360							Q8TAB7	CCD26_HUMAN	CCDC26 long non-coding RNA																		ggctcagctcagcttaacatgg	0.545														3379	0.67472	0.8812	0.5418	5008	,	,		21060	0.4871		0.6203	False		,,,				2504	0.7393					ENST00000446592.3																			0																																																			137196							g.chr8:130486240_130486241insGCTTAACATG	BC026098		8q24.21	2014-04-01	2014-03-27		ENSG00000229140	ENSG00000229140			28416	non-coding RNA	RNA, long non-coding	"""retinoic acid modulator"""	613040	"""coiled-coil domain containing 26"""			16449964, 23399484	Standard			Approved	MGC27434, RAM	uc003ysq.2	Q8TAB7	OTTHUMG00000164848		8.37:g.130486241_130486250dupGCTTAACATG														0	360	-									RNA	INS	ENST00000446592.3	37																																																																																						0.545	CCDC26-001	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000380581.1			5	1						5	1	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45017502	45017503	+	RNA	DEL	GC	GC	-	rs10669399|rs372255103|rs530891415|rs74817639|rs398034749|rs75328443		TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr19:45017502_45017503delGC	ENST00000454753.1	-	0	1588							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ttttggttttgctttttttttt	0.46																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20																																						125931					integral to membrane		g.chr19:45017502_45017503delGC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017502_45017503delGC										Q6UY09	CEA20_HUMAN			0	1588	-		Prostate(69;0.0352)							RNA	DEL	ENST00000454753.1	37																																																																																						0.460	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		2	4						2	4	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21328069	21328070	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chr22:21328069_21328070insG	ENST00000399167.2	+	4	508_509	c.268_269insG	c.(268-270)tggfs	p.W90fs	AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000405089.1_Frame_Shift_Ins_p.W96fs|AIFM3_ENST00000440238.2_Frame_Shift_Ins_p.W90fs|AIFM3_ENST00000399163.2_Frame_Shift_Ins_p.W90fs|AIFM3_ENST00000333607.6_Frame_Shift_Ins_p.W90fs	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	90	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGAGCTGGGCTGGGGGAAGGTG	0.629																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(268-270)gggfs		apoptosis-inducing factor, mitochondrion-associated, 3																																				SO:0001589	frameshift_variant	150209							g.chr22:21328069_21328070insG	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.273dupG	22.37:g.21328074_21328074dupG	ENSP00000382120:p.Trp90fs					AIFM3_ENST00000440238.2_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000399163.2_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000333607.6_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000405089.1_Frame_Shift_Ins_p.G96fs	p.G90fs	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	508_509	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Frame_Shift_Ins	INS	ENST00000399167.2	37	c.268_269insG	CCDS13786.1																																																																																				0.629	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		2	4						2	4	---	---	---	---
DGAT2L6	347516	broad.mit.edu	37	X	69420157	69420158	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-A4CG-01A-11D-A25Y-08	TCGA-CQ-A4CG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	009cbff6-7773-4ad9-a8a3-4770af607598	08cf1852-84bf-4af9-b7ea-12d38a3749fb	g.chrX:69420157_69420158insC	ENST00000333026.3	+	4	420_421	c.320_321insC	c.(319-324)caccccfs	p.HP107fs		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	107					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTGCCAATCACCCCCATGGCA	0.465																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(319-321)cccfs		diacylglycerol O-acyltransferase 2-like 6																																				SO:0001589	frameshift_variant	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420157_69420158insC	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.325dupC	X.37:g.69420162_69420162dupC	ENSP00000328036:p.His107fs						p.P107fs	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			4	420_421	+			107					Q6IEE2	Frame_Shift_Ins	INS	ENST00000333026.3	37	c.320_321insC	CCDS14397.1																																																																																				0.465	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		22	67						22	67	---	---	---	---
