#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
ZZEF1	23140	broad.mit.edu	37	17	3999943	3999943	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:3999943C>T	ENST00000381638.2	-	10	1848	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	575							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGATTCAGTTCCGGTAGAAAA	0.358																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1723-1725)gGa>gAa		zinc finger, ZZ-type with EF-hand domain 1							109.0	118.0	115.0					17																	3999943		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3999943C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1724G>A	17.37:g.3999943C>T	ENSP00000371051:p.Gly575Glu					ZZEF1_ENST00000574474.1_5'UTR	p.G575E	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			10	1848	-			575					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1724G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065220	0.20067	.	.	ENSG00000074755	ENST00000381638	T	0.19250	2.16	5.73	4.75	0.60458	.	0.099201	0.64402	D	0.000001	T	0.10208	0.0250	N	0.11560	0.145	0.46317	D	0.998985	B;B	0.15141	0.012;0.004	B;B	0.18263	0.021;0.006	T	0.15037	-1.0451	10	0.11182	T	0.66	-10.3125	9.6529	0.39908	0.0:0.7838:0.1428:0.0734	.	575;575	O43149-3;O43149	.;ZZEF1_HUMAN	E	575	ENSP00000371051:G575E	ENSP00000371051:G575E	G	-	2	0	ZZEF1	3946692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.771000	0.47670	1.534000	0.49203	0.555000	0.69702	GGA		0.358	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		26	128	0	0	0	1	0	26	128				
EIF3A	8661	broad.mit.edu	37	10	120829139	120829139	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:120829139G>A	ENST00000369144.3	-	6	896	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H223Y	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AATAGCCCGTGAATATCTTCC	0.323																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(769-771)Cac>Tac		eukaryotic translation initiation factor 3, subunit A							104.0	102.0	102.0					10																	120829139		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120829139G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.769C>T	10.37:g.120829139G>A	ENSP00000358140:p.His257Tyr					EIF3A_ENST00000541549.1_Missense_Mutation_p.H223Y|EIF3A_ENST00000478852.1_Intron	p.H257Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	6	896	-		Lung NSC(174;0.094)|all_lung(145;0.123)	257					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.769C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083794	0.76642	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.45668	0.89;0.89	6.17	6.17	0.99709	.	0.000000	0.40385	N	0.001102	T	0.59985	0.2234	L	0.47190	1.495	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.46898	-0.9158	10	0.32370	T	0.25	-39.0742	20.8794	0.99867	0.0:0.0:1.0:0.0	.	257	Q14152	EIF3A_HUMAN	Y	257;223	ENSP00000358140:H257Y;ENSP00000438178:H223Y	ENSP00000358140:H257Y	H	-	1	0	EIF3A	120819129	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.827000	0.99397	2.941000	0.99782	0.655000	0.94253	CAC		0.323	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		21	70	0	0	0	1	0	21	70				
SWAP70	23075	broad.mit.edu	37	11	9750958	9750958	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:9750958C>T	ENST00000318950.6	+	6	961	c.858C>T	c.(856-858)atC>atT	p.I286I	SWAP70_ENST00000447399.2_Silent_p.I228I	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	286	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CTTTTGAAATCAGTGCTTCAG	0.318																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(856-858)atC>atT		SWAP switching B-cell complex 70kDa subunit							82.0	91.0	88.0					11																	9750958		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9750958C>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.858C>T	11.37:g.9750958C>T						SWAP70_ENST00000447399.2_Silent_p.I228I	p.I286I	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	6	961	+			286			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.858C>T	CCDS31426.1																																																																																				0.318	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		5	39	0	0	0	1	0	5	39				
DNAJB6	10049	broad.mit.edu	37	7	157177596	157177596	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:157177596C>A	ENST00000262177.4	+	7	719	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	DNAJB6_ENST00000429029.2_Missense_Mutation_p.L172I|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Missense_Mutation_p.L123I	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	172	Gly/Phe-rich.|Interaction with KRT18.|Ser-rich.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCACGGGGGCCTCACTTCATT	0.388																																					Esophageal Squamous(46;195 967 1350 20350 43814)	ENST00000262177.4																			0				central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5						c.(514-516)Ctc>Atc		DnaJ (Hsp40) homolog, subfamily B, member 6							121.0	119.0	120.0					7																	157177596		2203	4300	6503	SO:0001583	missense	10049				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	g.chr7:157177596C>A	AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.514C>A	7.37:g.157177596C>A	ENSP00000262177:p.Leu172Ile					DNAJB6_ENST00000452797.2_Missense_Mutation_p.L123I|DNAJB6_ENST00000429029.2_Missense_Mutation_p.L172I|DNAJB6_ENST00000443280.1_Intron	p.L172I	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	7	719	+	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	172			Gly/Phe-rich.|Interaction with KRT18.		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	ENST00000262177.4	37	c.514C>A	CCDS5946.1	.	.	.	.	.	.	.	.	.	.	C	7.593	0.671209	0.14776	.	.	ENSG00000105993	ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000421417	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.52	1.5	0.22942	.	0.747088	0.11565	N	0.551363	T	0.66528	0.2798	L	0.58669	1.825	0.33358	D	0.571962	B;B;B;B	0.12630	0.006;0.004;0.004;0.001	B;B;B;B	0.14578	0.011;0.003;0.002;0.004	T	0.60383	-0.7274	10	0.20519	T	0.43	.	8.2785	0.31887	0.5299:0.3971:0.0:0.073	.	123;172;172;172	B4DN73;A8KAG0;O75190;O75190-2	.;.;DNJB6_HUMAN;.	I	172;172;172;123;172	ENSP00000397556:L172I;ENSP00000262177:L172I;ENSP00000400665:L172I;ENSP00000402270:L123I	ENSP00000262177:L172I	L	+	1	0	DNAJB6	156870357	0.034000	0.19679	0.949000	0.38748	0.274000	0.26718	0.163000	0.16520	0.069000	0.16605	0.655000	0.94253	CTC		0.388	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			25	90	1	0	1.33986e-20	1	1.45926e-20	25	90				
VMP1	81671	broad.mit.edu	37	17	57917153	57917153	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:57917153T>C	ENST00000262291.4	+	12	1412	c.1102T>C	c.(1102-1104)Ttt>Ctt	p.F368L	MIR21_ENST00000362134.1_RNA|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.F176L|VMP1_ENST00000537567.1_Missense_Mutation_p.F234L|VMP1_ENST00000545362.1_Missense_Mutation_p.F312L|VMP1_ENST00000536180.1_Missense_Mutation_p.F271L	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	368					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GTCCTGGATGTTTGAAAAGTT	0.383																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(1102-1104)Ttt>Ctt		vacuole membrane protein 1							314.0	298.0	304.0					17																	57917153		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917153T>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1102T>C	17.37:g.57917153T>C	ENSP00000262291:p.Phe368Leu					VMP1_ENST00000537567.1_Missense_Mutation_p.F234L|VMP1_ENST00000539763.1_Missense_Mutation_p.F176L|VMP1_ENST00000545362.1_Missense_Mutation_p.F312L|VMP1_ENST00000536180.1_Missense_Mutation_p.F271L|VMP1_ENST00000588617.1_3'UTR	p.F368L	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			12	1412	+			368					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1102T>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729640	0.69074	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73194	0.3556	L	0.60904	1.88	0.80722	D	1	B;D;D;B	0.67145	0.185;0.99;0.996;0.176	B;P;P;B	0.61940	0.099;0.762;0.896;0.211	T	0.73630	-0.3922	9	0.42905	T	0.14	-11.5926	15.2334	0.73411	0.0:0.0:0.0:1.0	.	234;271;312;368	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	L	368;234;176;271;312	.	ENSP00000262291:F368L	F	+	1	0	VMP1	55271935	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.060000	0.71141	2.008000	0.58898	0.374000	0.22700	TTT		0.383	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		45	212	0	0	0	1	0	45	212				
NISCH	11188	broad.mit.edu	37	3	52524200	52524200	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:52524200T>C	ENST00000479054.1	+	19	3638	c.3566T>C	c.(3565-3567)tTt>tCt	p.F1189S	NISCH_ENST00000345716.4_Missense_Mutation_p.F1189S			Q9Y2I1	NISCH_HUMAN	nischarin	1189					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTGTGTACTTTGTGCTCCAC	0.637																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3565-3567)tTt>tCt		nischarin							77.0	67.0	70.0					3																	52524200		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52524200T>C	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3566T>C	3.37:g.52524200T>C	ENSP00000418232:p.Phe1189Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.F1189S	p.F1189S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	18	3700	+			1189					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.3566T>C	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438333	0.62955	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.16324	2.35;2.35	5.18	4.0	0.46444	.	0.171760	0.51477	D	0.000094	T	0.15219	0.0367	L	0.36672	1.1	0.41829	D	0.990068	P	0.45396	0.857	B	0.41299	0.353	T	0.01810	-1.1269	10	0.87932	D	0	-10.8879	11.2852	0.49218	0.1369:0.0:0.0:0.8631	.	1189	Q9Y2I1	NISCH_HUMAN	S	1189;1189;113;533	ENSP00000418232:F1189S;ENSP00000339958:F1189S	ENSP00000339958:F1189S	F	+	2	0	NISCH	52499240	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.377000	0.66184	0.798000	0.33994	0.459000	0.35465	TTT		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		4	66	0	0	0	1	0	4	66				
CTSC	1075	broad.mit.edu	37	11	88061298	88061298	+	Intron	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:88061298G>A	ENST00000227266.5	-	2	433				CTSC_ENST00000529974.1_Missense_Mutation_p.H129Y|CTSC_ENST00000524463.1_Missense_Mutation_p.H129Y|CTSC_ENST00000393301.4_5'UTR	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C						aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCTCAGATGTGGCAAATCA	0.378																																						ENST00000524463.1																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(385-387)Cat>Tat		cathepsin C							81.0	76.0	78.0					11																	88061298		2201	4299	6500	SO:0001627	intron_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88061298G>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.318+6806C>T	11.37:g.88061298G>A						CTSC_ENST00000529974.1_Missense_Mutation_p.H129Y|CTSC_ENST00000227266.5_Intron|CTSC_ENST00000393301.4_5'UTR	p.H129Y	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN			3	473	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	0		V -> E (in PLS).			A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.385C>T	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258292	0.39896	.	.	ENSG00000109861	ENST00000524463;ENST00000529974	.	.	.	5.76	4.85	0.62838	.	.	.	.	.	T	0.28797	0.0714	.	.	.	0.22562	N	0.998985	B;B	0.14805	0.011;0.003	B;B	0.12837	0.008;0.007	T	0.16482	-1.0401	6	.	.	.	.	10.6379	0.45575	0.0878:0.0:0.9122:0.0	.	129;129	Q2HIY8;P53634-2	.;.	Y	129	.	.	H	-	1	0	CTSC	87700946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.568000	0.53820	1.438000	0.47492	0.655000	0.94253	CAT		0.378	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		16	47	0	0	0	1	0	16	47				
UFSP2	55325	broad.mit.edu	37	4	186343657	186343657	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:186343657G>C	ENST00000264689.6	-	2	180	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	22						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GTAGCTAGCTGAAAAGCCAAA	0.318																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(64-66)Cag>Gag		UFM1-specific peptidase 2							41.0	43.0	42.0					4																	186343657		2203	4297	6500	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186343657G>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.64C>G	4.37:g.186343657G>C	ENSP00000264689:p.Gln22Glu					UFSP2_ENST00000502282.1_5'UTR	p.Q22E	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	2	180	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	22					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.64C>G	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018933	0.35606	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.46819	1.59;0.86	5.34	5.34	0.76211	.	0.131532	0.52532	D	0.000067	T	0.46541	0.1398	L	0.59436	1.845	0.39352	D	0.965764	P	0.43788	0.817	B	0.36959	0.237	T	0.53158	-0.8478	10	0.45353	T	0.12	-17.2361	19.2305	0.93836	0.0:0.0:1.0:0.0	.	22	Q9NUQ7	UFSP2_HUMAN	E	22;16	ENSP00000264689:Q22E;ENSP00000423108:Q16E	ENSP00000264689:Q22E	Q	-	1	0	UFSP2	186580651	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.225000	0.72271	2.780000	0.95670	0.655000	0.94253	CAG		0.318	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		8	34	0	0	0	1	0	8	34				
EIF5A	1984	broad.mit.edu	37	17	7214726	7214726	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7214726G>A	ENST00000336458.8	+	4	729	c.328G>A	c.(328-330)Gag>Aag	p.E110K	EIF5A_ENST00000571955.1_Missense_Mutation_p.E110K|EIF5A_ENST00000576930.1_Missense_Mutation_p.E110K|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000573542.1_Missense_Mutation_p.E110K|EIF5A_ENST00000336452.7_Missense_Mutation_p.E140K|EIF5A_ENST00000419711.2_Missense_Mutation_p.E110K|EIF5A_ENST00000572815.1_Missense_Mutation_p.E110K|EIF5A_ENST00000416016.2_Missense_Mutation_p.E110K	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	110					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGAGGTACGAGAGGACCTTCG	0.582																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(328-330)Gag>Aag		eukaryotic translation initiation factor 5A							159.0	147.0	151.0					17																	7214726		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214726G>A		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.328G>A	17.37:g.7214726G>A	ENSP00000336776:p.Glu110Lys					EIF5A_ENST00000573542.1_Missense_Mutation_p.E110K|EIF5A_ENST00000571955.1_Missense_Mutation_p.E110K|EIF5A_ENST00000416016.2_Missense_Mutation_p.E110K|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E110K|EIF5A_ENST00000572815.1_Missense_Mutation_p.E110K|EIF5A_ENST00000336452.7_Missense_Mutation_p.E140K|EIF5A_ENST00000419711.2_Missense_Mutation_p.E110K	p.E110K	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			4	729	+			110					A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.328G>A	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517529	0.96416	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.48836	0.8;0.84;0.84;0.84	4.45	4.45	0.53987	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.86343	2.81	0.80722	D	1	B;P	0.44044	0.202;0.825	B;P	0.50405	0.367;0.64	T	0.73026	-0.4112	10	0.62326	D	0.03	-8.5408	16.3824	0.83473	0.0:0.0:1.0:0.0	.	110;140	P63241;P63241-2	IF5A1_HUMAN;.	K	140;110;110;110	ENSP00000336702:E140K;ENSP00000336776:E110K;ENSP00000390677:E110K;ENSP00000396073:E110K	ENSP00000336702:E140K	E	+	1	0	EIF5A	7155450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.952000	0.93031	2.490000	0.84030	0.561000	0.74099	GAG		0.582	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		23	67	0	0	0	1	0	23	67				
KRT16P6	353194	broad.mit.edu	37	17	16722211	16722211	+	RNA	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:16722211G>A	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							GTGGGGCCGTGAGAGTGCCAT	0.602																																						ENST00000417510.1																			0																																																			353194							g.chr17:16722211G>A																													17.37:g.16722211G>A														0	1519	-									RNA	SNP	ENST00000602730.1	37																																																																																						0.602	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000468034.1			6	52	0	0	0	1	0	6	52				
DCLRE1C	64421	broad.mit.edu	37	10	14976739	14976739	+	Missense_Mutation	SNP	G	G	A	rs149556109		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:14976739G>A	ENST00000378278.2	-	7	537	c.500C>T	c.(499-501)aCg>aTg	p.T167M	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T47M|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T167M|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T47M			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	167					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATCACAGAACGTAGTATCCAA	0.363								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(139-141)aCg>aTg	Non-homologous end-joining	DNA cross-link repair 1C		G	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	128.0	124.0	126.0		500,140,140,155	4.8	1.0	10	dbSNP_134	126	0,8600		0,0,4300	no	missense,missense,missense,missense	DCLRE1C	NM_001033855.1,NM_001033857.1,NM_001033858.1,NM_022487.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	167/693,47/573,47/573,52/578	14976739	1,13005	2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14976739G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.500C>T	10.37:g.14976739G>A	ENSP00000367527:p.Thr167Met					DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T167M|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T167M|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T52M	p.T47M	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			7	584	-			167					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.140C>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662108	0.88251	2.27E-4	0.0	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843;ENST00000378241;ENST00000456122	T;T;T;T;T;T;T;T;T;T;D;D;D	0.92048	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-2.96;-2.49;-2.9	4.85	4.85	0.62838	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	D	0.98404	1.0569	10	0.72032	D	0.01	.	18.3249	0.90250	0.0:0.0:1.0:0.0	.	167;52;167	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	M	167;47;52;52;52;47;47;47;167;47;21;47;52	ENSP00000367538:T167M;ENSP00000400529:T47M;ENSP00000367492:T52M;ENSP00000350349:T52M;ENSP00000367496:T52M;ENSP00000380030:T47M;ENSP00000367503:T47M;ENSP00000367502:T47M;ENSP00000367527:T167M;ENSP00000367506:T47M;ENSP00000391428:T21M;ENSP00000367487:T47M;ENSP00000413180:T52M	ENSP00000350349:T52M	T	-	2	0	DCLRE1C	15016745	1.000000	0.71417	0.994000	0.49952	0.790000	0.44656	9.556000	0.98127	2.393000	0.81446	0.650000	0.86243	ACG		0.363	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		22	117	0	0	0	1	0	22	117				
NFAT5	10725	broad.mit.edu	37	16	69727005	69727005	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69727005C>G	ENST00000354436.2	+	12	3541	c.3223C>G	c.(3223-3225)Caa>Gaa	p.Q1075E	NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1092E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q999E|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q999E|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q999E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1093E	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1075					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTTCATCCTCAAAATCCTAT	0.418																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2995-2997)Caa>Gaa		nuclear factor of activated T-cells 5, tonicity-responsive							98.0	99.0	98.0					16																	69727005		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727005C>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3223C>G	16.37:g.69727005C>G	ENSP00000346420:p.Gln1075Glu					NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1092E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1075E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q999E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1093E|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q999E	p.Q999E	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4547	+			1075					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2995C>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911147	0.52439	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.47869	0.87;0.83;0.83;0.83	5.97	5.97	0.96955	.	0.136202	0.52532	D	0.000078	T	0.55305	0.1912	L	0.56769	1.78	0.58432	D	0.999995	D;D;D	0.54207	0.965;0.965;0.965	P;P;P	0.47251	0.542;0.542;0.542	T	0.54589	-0.8271	10	0.49607	T	0.09	-1.2137	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1092;1075;1093	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	E	1093;1092;999;1075;999	ENSP00000396538:Q1093E;ENSP00000338806:Q999E;ENSP00000346420:Q1075E;ENSP00000377343:Q999E	ENSP00000338806:Q999E	Q	+	1	0	NFAT5	68284506	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	5.790000	0.69038	2.836000	0.97738	0.655000	0.94253	CAA		0.418	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		34	129	0	0	0	1	0	34	129				
PCDH9	5101	broad.mit.edu	37	13	67801352	67801352	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:67801352G>A	ENST00000377865.2	-	1	1355	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	PCDH9_ENST00000377861.3_Silent_p.V407V|PCDH9_ENST00000328454.5_Silent_p.V407V|PCDH9_ENST00000456367.1_Silent_p.V407V|PCDH9_ENST00000544246.1_Silent_p.V407V			Q9HC56	PCDH9_HUMAN	protocadherin 9	407	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATGAAATGGGACCTCTCTTT	0.373																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1219-1221)gtC>gtT		protocadherin 9							86.0	82.0	83.0					13																	67801352		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801352G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1221C>T	13.37:g.67801352G>A						PCDH9_ENST00000456367.1_Silent_p.V407V|PCDH9_ENST00000377865.2_Silent_p.V407V|PCDH9_ENST00000328454.5_Silent_p.V407V|PCDH9_ENST00000377861.3_Silent_p.V407V	p.V407V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1912	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	407			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.1221C>T	CCDS9444.1																																																																																				0.373	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		19	84	0	0	0	1	0	19	84				
DSG1	1828	broad.mit.edu	37	18	28908287	28908287	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:28908287G>A	ENST00000257192.4	+	4	564	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGTTGATCGAGAGGTCACTCC	0.343																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(352-354)Gag>Aag		desmoglein 1							86.0	84.0	84.0					18																	28908287		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28908287G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.352G>A	18.37:g.28908287G>A	ENSP00000257192:p.Glu118Lys						p.E118K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		4	564	+			118			Cadherin 1.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.352G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468424	0.84533	.	.	ENSG00000134760	ENST00000257192	T	0.72394	-0.65	5.59	5.59	0.84812	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000006	D	0.89255	0.6663	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91765	0.5423	10	0.87932	D	0	.	19.5954	0.95535	0.0:0.0:1.0:0.0	.	118	Q02413	DSG1_HUMAN	K	118	ENSP00000257192:E118K	ENSP00000257192:E118K	E	+	1	0	DSG1	27162285	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.817000	0.86213	2.635000	0.89317	0.563000	0.77884	GAG		0.343	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		5	49	0	0	0	1	0	5	49				
CECR2	27443	broad.mit.edu	37	22	18018385	18018385	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:18018385G>A	ENST00000400585.2	+	12	1282	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CECR2_ENST00000342247.5_Missense_Mutation_p.E395K|CECR2_ENST00000400573.5_Missense_Mutation_p.E423K|CECR2_ENST00000262608.8_Missense_Mutation_p.E424K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	465					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ACCTGTGGATGAATCTTATGC	0.403																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1270-1272)Gaa>Aaa		cat eye syndrome chromosome region, candidate 2							130.0	119.0	123.0					22																	18018385		1844	4099	5943	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18018385G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.844G>A	22.37:g.18018385G>A	ENSP00000383428:p.Glu282Lys					CECR2_ENST00000342247.5_Missense_Mutation_p.E395K|CECR2_ENST00000400573.4_Missense_Mutation_p.E423K|CECR2_ENST00000400585.2_Missense_Mutation_p.E282K	p.E424K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	11	1270	+		all_epithelial(15;0.139)	465					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1270G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.702913	0.96812	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.65	5.65	0.86999	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.56097	D	0.000038	T	0.45538	0.1347	L	0.28115	0.83	0.80722	D	1	B;D;D	0.89917	0.291;0.999;1.0	B;D;D	0.74348	0.168;0.983;0.976	T	0.33033	-0.9884	10	0.51188	T	0.08	-26.2968	20.0887	0.97806	0.0:0.0:1.0:0.0	.	465;282;423	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	K	395;282;423;424	ENSP00000341219:E395K;ENSP00000383428:E282K;ENSP00000383417:E423K;ENSP00000262608:E424K	ENSP00000262608:E424K	E	+	1	0	CECR2	16398385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.688000	0.98670	2.825000	0.97269	0.655000	0.94253	GAA		0.403	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		21	53	0	0	0	1	0	21	53				
TECPR2	9895	broad.mit.edu	37	14	102901162	102901162	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:102901162G>A	ENST00000359520.7	+	9	2234	c.2008G>A	c.(2008-2010)Gat>Aat	p.D670N	TECPR2_ENST00000558678.1_Missense_Mutation_p.D670N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	670					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACCAGAGCTGATGAAGGCAG	0.587																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(2008-2010)Gat>Aat		tectonin beta-propeller repeat containing 2							28.0	29.0	29.0					14																	102901162		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102901162G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2008G>A	14.37:g.102901162G>A	ENSP00000352510:p.Asp670Asn					TECPR2_ENST00000558678.1_Missense_Mutation_p.D670N	p.D670N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2234	+			670					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.2008G>A	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034353	0.19590	.	.	ENSG00000196663	ENST00000359520	T	0.15139	2.45	5.17	-0.0337	0.13900	.	2.732470	0.01035	N	0.004203	T	0.12433	0.0302	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.20240	-1.0281	9	.	.	.	.	5.0348	0.14428	0.281:0.0:0.5778:0.1412	.	670;670	A5PKY3;O15040	.;TCPR2_HUMAN	N	670	ENSP00000352510:D670N	.	D	+	1	0	TECPR2	101970915	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.589000	0.23939	-0.305000	0.08831	0.555000	0.69702	GAT		0.587	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		10	42	0	0	0	1	0	10	42				
GREB1	9687	broad.mit.edu	37	2	11770226	11770226	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:11770226G>C	ENST00000381486.2	+	26	4902	c.4602G>C	c.(4600-4602)gtG>gtC	p.V1534V	GREB1_ENST00000234142.5_Silent_p.V1534V|GREB1_ENST00000396123.1_Silent_p.V532V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1534						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACCCCTCGTGACAGACAAGG	0.567																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4600-4602)gtG>gtC		growth regulation by estrogen in breast cancer 1							64.0	63.0	63.0					2																	11770226		2049	4205	6254	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11770226G>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4602G>C	2.37:g.11770226G>C						GREB1_ENST00000234142.5_Silent_p.V1534V|GREB1_ENST00000396123.1_Silent_p.V532V	p.V1534V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	26	4902	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1534					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.4602G>C	CCDS42655.1																																																																																				0.567	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	31	0	0	0	1	0	7	31				
KRTAP10-10	353333	broad.mit.edu	37	21	46057392	46057392	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:46057392G>A	ENST00000380095.1	+	1	120	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGGCGGGTAGTCGACTGCCC	0.667																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(58-60)Gtc>Atc		keratin associated protein 10-10							88.0	92.0	91.0					21																	46057392		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057392G>A	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.58G>A	21.37:g.46057392G>A	ENSP00000369438:p.Val20Ile					TSPEAR_ENST00000323084.4_Intron	p.V20I	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	120	+			20		V -> D (in dbSNP:rs2838602).				Missense_Mutation	SNP	ENST00000380095.1	37	c.58G>A	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	g	8.210	0.800128	0.16397	.	.	ENSG00000221859	ENST00000380095	T	0.06294	3.32	3.52	3.52	0.40303	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.33369	-0.9871	9	0.62326	D	0.03	.	8.5352	0.33360	0.0:0.0:0.7689:0.2311	.	20	P60014	KR10A_HUMAN	I	20	ENSP00000369438:V20I	ENSP00000369438:V20I	V	+	1	0	KRTAP10-10	44881820	0.798000	0.28890	0.997000	0.53966	0.070000	0.16714	1.191000	0.32138	1.661000	0.50771	0.467000	0.42956	GTC		0.667	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		36	123	0	0	0	1	0	36	123				
GRIA1	2890	broad.mit.edu	37	5	153026494	153026494	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:153026494C>A	ENST00000285900.5	+	3	570	c.227C>A	c.(226-228)tCc>tAc	p.S76Y	GRIA1_ENST00000518783.1_Missense_Mutation_p.S86Y|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.S86Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.S7Y|GRIA1_ENST00000340592.5_Missense_Mutation_p.S76Y|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	76					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTAGTCTGTTCCCAGTTCTCC	0.443																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(226-228)tCc>tAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						116.0	108.0	111.0					5																	153026494		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026494C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.227C>A	5.37:g.153026494C>A	ENSP00000285900:p.Ser76Tyr					GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.S76Y|GRIA1_ENST00000518783.1_Missense_Mutation_p.S86Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.S7Y|GRIA1_ENST00000448073.4_Missense_Mutation_p.S86Y|GRIA1_ENST00000518862.1_3'UTR	p.S76Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	570	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	76					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.227C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624430	0.87560	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T	0.22743	1.94;1.94;2.01;2.01;1.94;1.94	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	T	0.44742	-0.9308	10	0.72032	D	0.01	.	18.0483	0.89340	0.0:1.0:0.0:0.0	.	86;86;86;76;76	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Y	76;76;30;76;7;7;86;86	ENSP00000285900:S76Y;ENSP00000339343:S76Y;ENSP00000427864:S7Y;ENSP00000442108:S7Y;ENSP00000428994:S86Y;ENSP00000415569:S86Y	ENSP00000285900:S76Y	S	+	2	0	GRIA1	153006687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.506000	0.84524	0.655000	0.94253	TCC		0.443	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			23	108	1	0	1.1804e-14	1	1.27298e-14	23	108				
WWC1	23286	broad.mit.edu	37	5	167855066	167855066	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:167855066G>C	ENST00000265293.4	+	12	2341	c.1839G>C	c.(1837-1839)ctG>ctC	p.L613L	WWC1_ENST00000521089.1_Silent_p.L613L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	613					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTGTGGCCTGAAAGTGGCCT	0.562																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1837-1839)ctG>ctC		WW and C2 domain containing 1							85.0	78.0	80.0					5																	167855066		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167855066G>C	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1839G>C	5.37:g.167855066G>C						WWC1_ENST00000521089.1_Silent_p.L613L	p.L613L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	12	2341	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	613					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.1839G>C	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187599	0.21870	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.18	-8.84E-4	0.14036	.	.	.	.	.	T	0.72598	0.3480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73119	-0.4083	4	.	.	.	.	20.1317	0.98001	0.0:0.6599:0.3401:0.0	.	.	.	.	Q	575;390	.	.	E	+	1	0	WWC1	167787644	0.999000	0.42202	0.986000	0.45419	0.979000	0.70002	0.481000	0.22260	-0.208000	0.10171	-0.175000	0.13238	GAA		0.562	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		12	31	0	0	0	1	0	12	31				
TEKT3	64518	broad.mit.edu	37	17	15217438	15217438	+	Missense_Mutation	SNP	C	C	T	rs544798302		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:15217438C>T	ENST00000395930.1	-	6	1030	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	TEKT3_ENST00000338696.2_Missense_Mutation_p.G282S|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	282			G -> A (in dbSNP:rs230898). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CGGAAGTAGCCGACACCGTCT	0.542																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(844-846)Ggc>Agc		tektin 3							214.0	145.0	169.0					17																	15217438		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15217438C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.844G>A	17.37:g.15217438C>T	ENSP00000379263:p.Gly282Ser					TEKT3_ENST00000338696.2_Missense_Mutation_p.G282S	p.G282S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	6	1030	-			282		G -> A (in dbSNP:rs230898).			B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.844G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	0.597	-0.830524	0.02734	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02140	4.43;4.43;4.43	5.42	0.504	0.16946	.	0.220679	0.64402	N	0.000015	T	0.00695	0.0023	N	0.01874	-0.695	0.29116	N	0.880524	B	0.06786	0.001	B	0.04013	0.001	T	0.44711	-0.9310	10	0.02654	T	1	-7.0731	1.8609	0.03188	0.1262:0.3034:0.1293:0.4411	.	282	Q9BXF9	TEKT3_HUMAN	S	282;282;116	ENSP00000379263:G282S;ENSP00000343995:G282S;ENSP00000443280:G116S	ENSP00000343995:G282S	G	-	1	0	TEKT3	15158163	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	1.258000	0.32944	0.341000	0.23771	-0.300000	0.09419	GGC		0.542	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		13	47	0	0	0	1	0	13	47				
MYH9	4627	broad.mit.edu	37	22	36745144	36745144	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:36745144G>C	ENST00000216181.5	-	2	368	c.138C>G	c.(136-138)ctC>ctG	p.L46L	MYH9_ENST00000401701.1_Silent_p.L46L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	46					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCTCCTTGAGGCTGGCTG	0.557			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(136-138)ctC>ctG		myosin, heavy chain 9, non-muscle							94.0	76.0	82.0					22																	36745144		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36745144G>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.138C>G	22.37:g.36745144G>C						MYH9_ENST00000401701.1_Silent_p.L46L	p.L46L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			2	368	-			46			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.138C>G	CCDS13927.1																																																																																				0.557	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		11	52	0	0	0	1	0	11	52				
ZAP70	7535	broad.mit.edu	37	2	98351029	98351029	+	Silent	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:98351029G>T	ENST00000264972.5	+	9	1151	c.936G>T	c.(934-936)acG>acT	p.T312T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.T5T|ZAP70_ENST00000442208.1_Silent_p.T186T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	312	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCATGGACACGAGCGTGTATG	0.592																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(934-936)acG>acT		zeta-chain (TCR) associated protein kinase 70kDa							106.0	93.0	97.0					2																	98351029		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351029G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.936G>T	2.37:g.98351029G>T						ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.T5T|ZAP70_ENST00000442208.1_Silent_p.T186T	p.T312T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			9	1151	+			312			Interdomain B.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.936G>T	CCDS33254.1																																																																																				0.592	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	61	1	0	7.48243e-07	1	7.80158e-07	10	61				
TMEM242	729515	broad.mit.edu	37	6	157744500	157744500	+	Missense_Mutation	SNP	G	G	C	rs587747016	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:157744500G>C	ENST00000400788.4	-	1	133	c.32C>G	c.(31-33)cCg>cGg	p.P11R	RP5-933K21.3_ENST00000603032.1_lincRNA|TMEM242_ENST00000367144.4_Missense_Mutation_p.P11R	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	11						integral component of membrane (GO:0016021)											CCCAGAGGCCGGCTGCCCAGT	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15570	0.0		0.0	False		,,,				2504	0.0					ENST00000367144.3																			0											c.(31-33)cCg>cGg		transmembrane protein 242							104.0	115.0	111.0					6																	157744500		1913	4126	6039	SO:0001583	missense	729515					integral to membrane		g.chr6:157744500G>C	AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.32C>G	6.37:g.157744500G>C	ENSP00000383594:p.Pro11Arg						p.P11R			Q9NWH2	CF035_HUMAN			1	133	-			11					B9EJD0|Q9NZ88|Q9P094	Missense_Mutation	SNP	ENST00000400788.4	37	c.32C>G	CCDS43519.1	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040823	0.19669	.	.	ENSG00000215712	ENST00000400788;ENST00000367144	.	.	.	3.91	2.04	0.26737	.	1.438430	0.04807	U	0.434574	T	0.21062	0.0507	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36286	-0.9754	9	0.56958	D	0.05	0.5911	10.3209	0.43764	0.0:0.4473:0.5527:0.0	.	11	Q9NWH2	CF035_HUMAN	R	11	.	ENSP00000356112:P11R	P	-	2	0	C6orf35	157664488	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	1.090000	0.30902	-1.480000	0.01865	-0.253000	0.11424	CCG		0.637	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042837.2			35	166	0	0	0	1	0	35	166				
MAP3K12	7786	broad.mit.edu	37	12	53876955	53876955	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:53876955C>T	ENST00000267079.2	-	12	1758	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	MAP3K12_ENST00000547035.1_Silent_p.T544T|MAP3K12_ENST00000547488.1_Silent_p.T544T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	511				T -> A (in Ref. 1; AAA67343). {ECO:0000305}.	histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCAAAGACTCCGTCTTGAGGA	0.527																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1531-1533)acG>acA		mitogen-activated protein kinase kinase kinase 12							50.0	54.0	53.0					12																	53876955		2124	4269	6393	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876955C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1533G>A	12.37:g.53876955C>T						MAP3K12_ENST00000547035.1_Silent_p.T544T|MAP3K12_ENST00000547488.1_Silent_p.T544T	p.T511T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	1758	-			511	T -> A (in Ref. 1; AAA67343).				B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.1533G>A	CCDS8860.1																																																																																				0.527	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		10	74	0	0	0	1	0	10	74				
TMEM168	64418	broad.mit.edu	37	7	112407306	112407306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:112407306C>T	ENST00000312814.6	-	5	2600	c.2040G>A	c.(2038-2040)tgG>tgA	p.W680*	TMEM168_ENST00000454074.1_Nonsense_Mutation_p.W680*	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	680						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAGGAAGAAACCAACTCATTT	0.388																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(2038-2040)tgG>tgA		transmembrane protein 168							64.0	62.0	63.0					7																	112407306		2203	4299	6502	SO:0001587	stop_gained	64418					integral to membrane|transport vesicle		g.chr7:112407306C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.2040G>A	7.37:g.112407306C>T	ENSP00000323068:p.Trp680*					TMEM168_ENST00000454074.1_Nonsense_Mutation_p.W680*	p.W680*	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			5	2600	-			680					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Nonsense_Mutation	SNP	ENST00000312814.6	37	c.2040G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225642	0.58668	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.72	3.87	0.44632	.	0.053625	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2637	10.5051	0.44828	0.1342:0.797:0.0:0.0687	.	.	.	.	X	680;680;296;241	.	ENSP00000323068:W680X	W	-	3	0	TMEM168	112194542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.996000	0.70639	0.725000	0.32318	0.591000	0.81541	TGG		0.388	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		8	55	0	0	0	1	0	8	55				
MUC16	94025	broad.mit.edu	37	19	9076139	9076139	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:9076139G>A	ENST00000397910.4	-	3	11510	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3770	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCTGGGCTGATCATGGTTT	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11305-11307)atC>atT		mucin 16, cell surface associated							138.0	136.0	137.0					19																	9076139		2063	4210	6273	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076139G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11307C>T	19.37:g.9076139G>A							p.I3769I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11510	-			3770			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.11307C>T	CCDS54212.1																																																																																				0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	113	0	0	0	1	0	28	113				
GABRD	2563	broad.mit.edu	37	1	1956400	1956400	+	Missense_Mutation	SNP	G	G	A	rs74786356		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:1956400G>A	ENST00000378585.4	+	2	171	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	30					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGACATCGGCGACTACGTGGG	0.612																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(88-90)Gac>Aac		gamma-aminobutyric acid (GABA) A receptor, delta							61.0	63.0	62.0					1																	1956400		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956400G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.88G>A	1.37:g.1956400G>A	ENSP00000367848:p.Asp30Asn						p.D30N	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	2	171	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	30					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.88G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329157	0.60743	.	.	ENSG00000187730	ENST00000378585	T	0.81415	-1.49	4.84	4.84	0.62591	.	0.131868	0.49305	D	0.000145	D	0.82907	0.5139	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.77557	0.99	T	0.80207	-0.1478	10	0.25106	T	0.35	1.9999	15.4747	0.75468	0.0:0.0:1.0:0.0	.	30	O14764	GBRD_HUMAN	N	30	ENSP00000367848:D30N	ENSP00000367848:D30N	D	+	1	0	GABRD	1946260	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	7.389000	0.79806	2.425000	0.82216	0.555000	0.69702	GAC		0.612	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		11	56	0	0	0	1	0	11	56				
FXR2	9513	broad.mit.edu	37	17	7504747	7504747	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7504747C>T	ENST00000250113.7	-	7	974	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	214						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TTGGTAGCTTCTTCATTGCGG	0.502																																						ENST00000250113.7																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(640-642)Gaa>Aaa		fragile X mental retardation, autosomal homolog 2							198.0	202.0	201.0					17																	7504747		2005	4174	6179	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7504747C>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.640G>A	17.37:g.7504747C>T	ENSP00000250113:p.Glu214Lys						p.E214K	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	7	974	-			214					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.640G>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749245	0.96882	.	.	ENSG00000129245	ENST00000250113	T	0.44482	0.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.76574	2.34	0.80722	D	1	P;P	0.46952	0.887;0.739	P;P	0.51355	0.667;0.667	T	0.62680	-0.6803	10	0.87932	D	0	-13.4189	16.7517	0.85488	0.0:1.0:0.0:0.0	.	214;214	Q86V09;P51116	.;FXR2_HUMAN	K	214	ENSP00000250113:E214K	ENSP00000250113:E214K	E	-	1	0	FXR2	7445472	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.617000	0.83032	2.546000	0.85860	0.643000	0.83706	GAA		0.502	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			45	153	0	0	0	1	0	45	153				
AKAP17A	8227	broad.mit.edu	37	X	1712436	1712436	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:1712436C>T	ENST00000313871.3	+	2	277	c.81C>T	c.(79-81)atC>atT	p.I27I	AKAP17A_ENST00000381261.3_Silent_p.I27I	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	27					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGAAGCCCATCACCAAGATGA	0.622																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(79-81)atC>atT		A kinase (PRKA) anchor protein 17A							129.0	113.0	119.0					X																	1712436		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712436C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.81C>T	X.37:g.1712436C>T						AKAP17A_ENST00000381261.3_Silent_p.I27I	p.I27I	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	277	+			27					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.81C>T	CCDS14116.1																																																																																				0.622	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		38	150	0	0	0	1	0	38	150				
MGRN1	23295	broad.mit.edu	37	16	4715153	4715153	+	Splice_Site	SNP	G	G	T	rs377465020		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:4715153G>T	ENST00000399577.5	+	7	771		c.e7+1		MGRN1_ENST00000415496.1_Splice_Site|MGRN1_ENST00000588994.1_Splice_Site|MGRN1_ENST00000586183.1_Splice_Site|MGRN1_ENST00000262370.7_Splice_Site	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTTGAAAAGGTAAGTGCCAT	0.647																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.e7+1		mahogunin ring finger 1, E3 ubiquitin protein ligase		G	,,,	1,4075		0,1,2037	53.0	58.0	56.0		,,,	5.0	1.0	16		56	0,8372		0,0,4186	no	splice-5,splice-5,splice-5,splice-5	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,1,6223	TT,TG,GG		0.0,0.0245,0.0080	,,,	,,,	4715153	1,12447	2038	4186	6224	SO:0001630	splice_region_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4715153G>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.678+1G>T	16.37:g.4715153G>T						MGRN1_ENST00000415496.1_Splice_Site|MGRN1_ENST00000262370.7_Splice_Site|MGRN1_ENST00000586183.1_Splice_Site|MGRN1_ENST00000588994.1_Splice_Site		NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			7	771	+								A4URL3|A4URL4|Q86W76	Splice_Site	SNP	ENST00000399577.5	37		CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779951	0.70222	2.45E-4	0.0	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1944	0.73075	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGRN1	4655154	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	9.180000	0.94867	2.607000	0.88179	0.650000	0.86243	.		0.647	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2		Intron	9	31	1	0	1.58986e-06	1	1.64211e-06	9	31				
SYNJ2	8871	broad.mit.edu	37	6	158510943	158510943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:158510943G>T	ENST00000355585.4	+	25	3604	c.3529G>T	c.(3529-3531)Gaa>Taa	p.E1177*	SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.E262*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.E1177*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.E1132*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1177					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGGAGGCAGAAGCAGCAAT	0.493																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3529-3531)Gaa>Taa		synaptojanin 2							69.0	63.0	65.0					6																	158510943		2203	4300	6503	SO:0001587	stop_gained	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158510943G>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3529G>T	6.37:g.158510943G>T	ENSP00000347792:p.Glu1177*					SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.E1177*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.E1132*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.E262*	p.E1177*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	25	3604	+			1177					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Nonsense_Mutation	SNP	ENST00000355585.4	37	c.3529G>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	42	9.414427	0.99164	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.1543	0.93504	0.0:0.0:1.0:0.0	.	.	.	.	X	1132;1177;1177;262	.	ENSP00000347792:E1177X	E	+	1	0	SYNJ2	158430931	1.000000	0.71417	0.717000	0.30585	0.722000	0.41435	6.353000	0.73032	2.041000	0.60428	0.454000	0.30748	GAA		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			10	25	1	0	6.40141e-05	1	6.51996e-05	10	25				
DDX46	9879	broad.mit.edu	37	5	134099644	134099644	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:134099644G>C	ENST00000354283.4	+	2	203	c.68G>C	c.(67-69)aGa>aCa	p.R23T	DDX46_ENST00000452510.2_Missense_Mutation_p.R23T			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	23	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCGGTCTAGAAGTCGCTCA	0.468																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(67-69)aGa>aCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							86.0	82.0	83.0					5																	134099644		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134099644G>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.68G>C	5.37:g.134099644G>C	ENSP00000346236:p.Arg23Thr					DDX46_ENST00000354283.4_Missense_Mutation_p.R23T	p.R23T	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	226	+			23			Arg-rich.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.68G>C	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368432	0.61513	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.42900	0.96;0.96	5.22	5.22	0.72569	.	0.051983	0.85682	D	0.000000	T	0.39600	0.1084	L	0.58354	1.805	0.39002	D	0.959377	B	0.16166	0.016	B	0.16289	0.015	T	0.27502	-1.0072	10	0.39692	T	0.17	-19.4186	12.3206	0.54983	0.0765:0.0:0.9235:0.0	.	23	Q7L014	DDX46_HUMAN	T	23	ENSP00000416534:R23T;ENSP00000346236:R23T	ENSP00000346236:R23T	R	+	2	0	DDX46	134127543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.395000	0.66291	2.708000	0.92522	0.650000	0.86243	AGA		0.468	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		13	68	0	0	0	1	0	13	68				
HEG1	57493	broad.mit.edu	37	3	124738226	124738226	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:124738226C>T	ENST00000311127.4	-	5	1535	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	490	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACAGTAGAGTCTGAGAACTGG	0.463																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(1468-1470)Gac>Aac		heart development protein with EGF-like domains 1							218.0	208.0	211.0					3																	124738226		2005	4195	6200	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738226C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1468G>A	3.37:g.124738226C>T	ENSP00000311502:p.Asp490Asn					HEG1_ENST00000477536.1_5'UTR	p.D490N	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			5	1535	-			490			Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1468G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	7.761	0.705368	0.15172	.	.	ENSG00000173706	ENST00000311127	D	0.88664	-2.41	4.92	1.99	0.26369	.	.	.	.	.	T	0.76765	0.4033	N	0.22421	0.69	0.09310	N	1	P;B	0.36535	0.557;0.421	B;B	0.36186	0.219;0.109	T	0.63808	-0.6553	9	0.16420	T	0.52	.	3.549	0.07839	0.1663:0.565:0.1736:0.0951	.	490;490	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	N	490	ENSP00000311502:D490N	ENSP00000311502:D490N	D	-	1	0	HEG1	126220916	0.007000	0.16637	0.006000	0.13384	0.053000	0.15095	0.306000	0.19279	0.618000	0.30179	0.650000	0.86243	GAC		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		46	174	0	0	0	1	0	46	174				
MET	4233	broad.mit.edu	37	7	116340033	116340033	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:116340033A>G	ENST00000318493.6	+	2	1082	c.895A>G	c.(895-897)Att>Gtt	p.I299V	MET_ENST00000397752.3_Missense_Mutation_p.I299V|MET_ENST00000436117.2_Missense_Mutation_p.I299V			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTGGAGTGTATTCTCACAGA	0.423			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(895-897)Att>Gtt		met proto-oncogene							76.0	72.0	73.0					7																	116340033		1840	4092	5932	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340033A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.895A>G	7.37:g.116340033A>G	ENSP00000317272:p.Ile299Val					MET_ENST00000436117.2_Missense_Mutation_p.I299V|MET_ENST00000318493.6_Missense_Mutation_p.I299V	p.I299V	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1095	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	299			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.895A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731838	0.30684	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10763	2.84;2.84;2.84	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.047093	0.85682	D	0.000000	T	0.31827	0.0809	M	0.64080	1.96	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.76;1.0;0.997;0.999;0.999;1.0;0.999;0.996;0.99;0.998;0.998;0.995;0.995	P;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.484;0.998;0.975;0.998;0.998;0.998;0.998;0.998;0.998;0.997;0.998;0.992;0.992	T	0.00544	-1.1679	10	0.42905	T	0.14	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	299;299;299;299;299;299;299;299;299;299;299;299;299	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	V	299	ENSP00000380860:I299V;ENSP00000317272:I299V;ENSP00000410980:I299V	ENSP00000317272:I299V	I	+	1	0	MET	116127269	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	6.976000	0.76135	2.371000	0.80710	0.533000	0.62120	ATT		0.423	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			21	78	0	0	0	1	0	21	78				
SNRNP200	23020	broad.mit.edu	37	2	96963148	96963148	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:96963148C>T	ENST00000323853.5	-	11	1407	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E444K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	444					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACATGCACCTCTTCATAGCCC	0.507																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1330-1332)Gag>Aag		small nuclear ribonucleoprotein 200kDa (U5)							62.0	56.0	58.0					2																	96963148		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96963148C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1330G>A	2.37:g.96963148C>T	ENSP00000317123:p.Glu444Lys					SNRNP200_ENST00000349783.5_Missense_Mutation_p.E444K	p.E444K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			11	1407	-			444					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1330G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944364	0.92593	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.37584	1.19;1.19	5.49	4.62	0.57501	.	0.107287	0.64402	D	0.000007	T	0.58495	0.2126	M	0.90425	3.115	0.80722	D	1	P	0.45768	0.866	P	0.52031	0.688	T	0.67715	-0.5599	10	0.72032	D	0.01	-22.3471	13.18	0.59649	0.0:0.9219:0.0:0.0781	.	444	O75643	U520_HUMAN	K	444;444;119	ENSP00000317123:E444K;ENSP00000326937:E444K	ENSP00000317123:E444K	E	-	1	0	SNRNP200	96326875	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.408000	0.80041	1.333000	0.45449	0.655000	0.94253	GAG		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		12	34	0	0	0	1	0	12	34				
PAPSS1	9061	broad.mit.edu	37	4	108641325	108641325	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:108641325G>A	ENST00000265174.4	-	1	283	c.11C>T	c.(10-12)cCc>cTc	p.P4L	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CAGGCTCCCGGGGATCTCCAT	0.682																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(10-12)cCc>cTc		3'-phosphoadenosine 5'-phosphosulfate synthase 1							59.0	55.0	57.0					4																	108641325		2203	4299	6502	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108641325G>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.11C>T	4.37:g.108641325G>A	ENSP00000265174:p.Pro4Leu					PAPSS1_ENST00000511304.1_5'UTR	p.P4L	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	1	283	-		Hepatocellular(203;0.217)	4					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.11C>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130609	0.06753	.	.	ENSG00000138801	ENST00000265174	T	0.28666	1.6	4.07	3.22	0.36961	.	0.557887	0.19260	N	0.118710	T	0.13200	0.0320	N	0.03608	-0.345	0.24451	N	0.994483	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.56958	D	0.05	-8.6111	7.389	0.26899	0.1208:0.0:0.8792:0.0	.	4	O43252	PAPS1_HUMAN	L	4	ENSP00000265174:P4L	ENSP00000265174:P4L	P	-	2	0	PAPSS1	108860774	1.000000	0.71417	0.328000	0.25416	0.540000	0.34992	4.046000	0.57376	1.043000	0.40175	0.650000	0.86243	CCC		0.682	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			5	49	0	0	0	1	0	5	49				
ACOT11	26027	broad.mit.edu	37	1	55058269	55058269	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:55058269C>G	ENST00000371316.3	+	4	444	c.362C>G	c.(361-363)tCc>tGc	p.S121C	ACOT11_ENST00000343744.2_Missense_Mutation_p.S121C|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	121	Acyl coenzyme A hydrolase 1.|Coenzyme A binding. {ECO:0000250}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTTCAACTCCAGCATGGAG	0.607																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(361-363)tCc>tGc		acyl-CoA thioesterase 11							101.0	86.0	91.0					1																	55058269		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55058269C>G	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.362C>G	1.37:g.55058269C>G	ENSP00000360366:p.Ser121Cys					ACOT11_ENST00000343744.2_Missense_Mutation_p.S121C|ACOT11_ENST00000481208.1_3'UTR	p.S121C	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			4	444	+			121			Acyl coenzyme A hydrolase 1.|Coenzyme A binding (By similarity).		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.362C>G	CCDS592.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485181	0.84854	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.52754	0.65;0.65	4.3	4.3	0.51218	Thioesterase superfamily (1);	0.108322	0.64402	D	0.000004	T	0.75627	0.3875	M	0.92738	3.34	0.58432	D	0.999999	D;D	0.71674	0.998;0.992	D;P	0.72075	0.976;0.885	D	0.83734	0.0200	10	0.87932	D	0	-23.5144	17.1448	0.86763	0.0:1.0:0.0:0.0	.	121;121	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	C	121	ENSP00000340260:S121C;ENSP00000360366:S121C	ENSP00000340260:S121C	S	+	2	0	ACOT11	54830857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.768000	0.55295	2.121000	0.65114	0.561000	0.74099	TCC		0.607	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		17	37	0	0	0	1	0	17	37				
SH3BP4	23677	broad.mit.edu	37	2	235950835	235950835	+	Silent	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:235950835C>G	ENST00000409212.1	+	4	1929	c.1422C>G	c.(1420-1422)gtC>gtG	p.V474V	SH3BP4_ENST00000344528.4_Silent_p.V474V|SH3BP4_ENST00000392011.2_Silent_p.V474V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	474					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ATAAAAAAGTCACAGTGGGTC	0.547																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1420-1422)gtC>gtG		SH3-domain binding protein 4							66.0	70.0	68.0					2																	235950835		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950835C>G	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1422C>G	2.37:g.235950835C>G						SH3BP4_ENST00000392011.2_Silent_p.V474V|SH3BP4_ENST00000344528.4_Silent_p.V474V	p.V474V			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1929	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	474					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.1422C>G	CCDS2513.1																																																																																				0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			29	38	0	0	0	1	0	29	38				
ROPN1B	152015	broad.mit.edu	37	3	125701278	125701278	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:125701278G>C	ENST00000514116.1	+	6	877	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	ROPN1B_ENST00000251776.4_Missense_Mutation_p.E188Q|ROPN1B_ENST00000511082.1_Missense_Mutation_p.E96Q|ROPN1B_ENST00000505382.1_Missense_Mutation_p.E96Q			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	188					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		AAACTACATTGAACAGGAAGT	0.418																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(562-564)Gaa>Caa		rhophilin associated tail protein 1B							132.0	115.0	121.0					3																	125701278		2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125701278G>C	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.562G>C	3.37:g.125701278G>C	ENSP00000426271:p.Glu188Gln					ROPN1B_ENST00000251776.4_Missense_Mutation_p.E188Q|ROPN1B_ENST00000505382.1_Missense_Mutation_p.E96Q|ROPN1B_ENST00000511082.1_Missense_Mutation_p.E96Q	p.E188Q			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	6	877	+			188					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.562G>C	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605934	0.28623	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	2.31	2.31	0.28768	.	0.186715	0.36665	N	0.002473	T	0.22742	0.0549	N	0.17082	0.46	0.24705	N	0.993237	D	0.61080	0.989	D	0.70487	0.969	T	0.06373	-1.0830	10	0.24483	T	0.36	-14.7663	8.2743	0.31864	0.0:0.0:1.0:0.0	.	188	Q9BZX4	ROP1B_HUMAN	Q	188;188;96;96	ENSP00000426271:E188Q;ENSP00000251776:E188Q;ENSP00000421662:E96Q;ENSP00000424447:E96Q	ENSP00000251776:E188Q	E	+	1	0	ROPN1B	127183968	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.935000	0.63498	1.596000	0.50062	0.454000	0.30748	GAA		0.418	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		12	40	0	0	0	1	0	12	40				
HEXA	3073	broad.mit.edu	37	15	72638653	72638653	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:72638653C>T	ENST00000268097.5	-	12	1847	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_3'UTR|HEXA_ENST00000567159.1_Silent_p.Q448Q|HEXA_ENST00000566304.1_Silent_p.Q459Q|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Silent_p.Q275Q	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	448					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCAGAGCCTTCTGCTCAGGGG	0.562																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(1342-1344)caG>caA		hexosaminidase A (alpha polypeptide)							55.0	47.0	50.0					15																	72638653		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72638653C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1344G>A	15.37:g.72638653C>T						HEXA_ENST00000429918.2_Silent_p.Q275Q|HEXA_ENST00000567159.1_Silent_p.Q448Q|HEXA_ENST00000566304.1_Silent_p.Q459Q|HEXA_ENST00000457859.2_3'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA	p.Q448Q	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			12	1847	-			448					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.1344G>A	CCDS10243.1																																																																																				0.562	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		10	34	0	0	0	1	0	10	34				
SYNE1	23345	broad.mit.edu	37	6	152697692	152697692	+	Splice_Site	SNP	G	G	C	rs117360770	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:152697692G>C	ENST00000367255.5	-	58	9749	c.9148C>G	c.(9148-9150)Ctt>Gtt	p.L3050V	SYNE1_ENST00000423061.1_Splice_Site_p.L3057V|SYNE1_ENST00000265368.4_Splice_Site_p.L3050V|SYNE1_ENST00000341594.5_Splice_Site_p.L3089V|SYNE1_ENST00000448038.1_Splice_Site_p.L3057V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3050					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAAACAAAGACTGAAAAGG	0.393										HNSCC(10;0.0054)			G|||	6	0.00119808	0.0	0.0043	5008	,	,		16871	0.0		0.002	False		,,,				2504	0.001					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e58-1		spectrin repeat containing, nuclear envelope 1		G	VAL/LEU,VAL/LEU	3,4403	6.2+/-15.9	0,3,2200	47.0	49.0	48.0		9169,9148	5.7	1.0	6	dbSNP_132	48	27,8573	18.5+/-59.3	0,27,4273	yes	missense-near-splice,missense-near-splice	SYNE1	NM_033071.3,NM_182961.3	32,32	0,30,6473	CC,CG,GG		0.314,0.0681,0.2307	probably-damaging,probably-damaging	3057/8750,3050/8798	152697692	30,12976	2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152697692G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9147-1C>G	6.37:g.152697692G>C		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Splice_Site_p.L3050_splice|SYNE1_ENST00000423061.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000448038.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000341594.5_Splice_Site_p.L3089_splice	p.L3050_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	58	9749	-		Ovarian(120;0.0955)	3050					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.9146_splice	CCDS5236.2	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	24.1	4.493027	0.84962	6.81E-4	0.00314	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.66460	0.81;-0.21;0.81;-0.19;0.81	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000042	T	0.78149	0.4238	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;P;D;D	0.91635	0.997;0.784;0.997;0.999	T	0.73616	-0.3926	10	0.33141	T	0.24	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	3050;167;3050;3057	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.;.	V	3050;3057;3050;3057;3089	ENSP00000356224:L3050V;ENSP00000396024:L3057V;ENSP00000265368:L3050V;ENSP00000390975:L3057V;ENSP00000341887:L3089V	ENSP00000265368:L3050V	L	-	1	0	SYNE1	152739385	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.312000	0.72840	2.707000	0.92482	0.655000	0.94253	CTT		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	12	41	0	0	0	1	0	12	41				
NPY	4852	broad.mit.edu	37	7	24325048	24325048	+	Splice_Site	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:24325048G>A	ENST00000407573.1	+	3	478		c.e3+1		NPY_ENST00000242152.2_Splice_Site|NPY_ENST00000405982.1_Splice_Site			P01303	NPY_HUMAN	neuropeptide Y						adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCAGGCAGAGGTGGGTGGGAC	0.612																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.e3+1		neuropeptide Y							51.0	39.0	43.0					7																	24325048		2203	4300	6503	SO:0001630	splice_region_variant	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24325048G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.188+1G>A	7.37:g.24325048G>A						NPY_ENST00000405982.1_Splice_Site|NPY_ENST00000242152.2_Splice_Site				P01303	NPY_HUMAN			3	478	+									Splice_Site	SNP	ENST00000407573.1	37		CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776972	0.90195	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9826	0.97334	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPY	24291573	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.824000	0.99380	2.734000	0.93682	0.650000	0.86243	.		0.612	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905	Intron	7	22	0	0	0	1	0	7	22				
PTK2	5747	broad.mit.edu	37	8	141727722	141727722	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:141727722C>A	ENST00000522684.1	-	23	2346	c.2117G>T	c.(2116-2118)gGa>gTa	p.G706V	PTK2_ENST00000395218.2_Missense_Mutation_p.G706V|PTK2_ENST00000535192.1_Missense_Mutation_p.G706V|PTK2_ENST00000517887.1_Missense_Mutation_p.G750V|PTK2_ENST00000340930.3_Missense_Mutation_p.G706V|PTK2_ENST00000519465.1_Missense_Mutation_p.G334V|PTK2_ENST00000538769.1_Missense_Mutation_p.G374V|PTK2_ENST00000519419.1_Missense_Mutation_p.G750V|PTK2_ENST00000430260.2_Missense_Mutation_p.G16V|PTK2_ENST00000521059.1_Missense_Mutation_p.G706V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	706					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCAGACCCTCCGGAGTCCCA	0.517																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2116-2118)gGa>gTa		protein tyrosine kinase 2							141.0	121.0	128.0					8																	141727722		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141727722C>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2117G>T	8.37:g.141727722C>A	ENSP00000429911:p.Gly706Val					PTK2_ENST00000340930.3_Missense_Mutation_p.G706V|PTK2_ENST00000395218.2_Missense_Mutation_p.G706V|PTK2_ENST00000519465.1_Missense_Mutation_p.G334V|PTK2_ENST00000535192.1_Missense_Mutation_p.G706V|PTK2_ENST00000519419.1_Missense_Mutation_p.G750V|PTK2_ENST00000521059.1_Missense_Mutation_p.G706V|PTK2_ENST00000538769.1_Missense_Mutation_p.G374V|PTK2_ENST00000517887.1_Missense_Mutation_p.G750V|PTK2_ENST00000430260.2_Missense_Mutation_p.G16V	p.G706V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		23	2346	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	706					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2117G>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043733	0.75732	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986;ENST00000522424;ENST00000521562;ENST00000523388	T;T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.04;-1.04;-1.03;-1.05;-1.04;-1.04;-1.03;-1.02;-1.03;-1.05;1.12;-1.04	5.62	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.66939	2.045	0.80722	D	1	D;P;P;D;D;D;D;P;D;D	0.61080	0.975;0.955;0.848;0.978;0.967;0.989;0.975;0.837;0.97;0.986	P;P;P;P;P;P;P;P;P;P	0.60345	0.776;0.821;0.564;0.69;0.701;0.797;0.873;0.541;0.791;0.854	D	0.85317	0.1082	10	0.45353	T	0.12	.	16.3155	0.82918	0.0:0.8675:0.1325:0.0	.	706;401;626;706;728;706;658;554;374;334	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.;.	V	706;706;334;750;706;658;706;627;401;378;706;374;750;16;404;16;16;16	ENSP00000429911:G706V;ENSP00000438009:G706V;ENSP00000429170:G334V;ENSP00000429082:G750V;ENSP00000429474:G706V;ENSP00000378644:G706V;ENSP00000428492:G378V;ENSP00000341189:G706V;ENSP00000445742:G374V;ENSP00000429129:G750V;ENSP00000403416:G16V;ENSP00000430603:G404V	ENSP00000341189:G706V	G	-	2	0	PTK2	141796904	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.227000	0.78070	1.313000	0.45069	0.650000	0.86243	GGA		0.517	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		13	110	1	0	0.000219431	1	0.000221445	13	110				
PDZRN4	29951	broad.mit.edu	37	12	41967568	41967568	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:41967568T>A	ENST00000402685.2	+	10	2995	c.2987T>A	c.(2986-2988)aTg>aAg	p.M996K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.M736K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.M738K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	996							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAAAGATGATGAAAAAGAGA	0.458																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2206-2208)aTg>aAg		PDZ domain containing ring finger 4							51.0	48.0	49.0					12																	41967568		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967568T>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2987T>A	12.37:g.41967568T>A	ENSP00000384197:p.Met996Lys					PDZRN4_ENST00000539469.2_Missense_Mutation_p.M738K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.M996K	p.M736K			Q6ZMN7	PZRN4_HUMAN			10	2595	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	996					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2207T>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519760	0.64634	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.75260	-0.92;-0.92;-0.92	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.72894	2.215	0.80722	D	1	P;D;P	0.61697	0.918;0.99;0.855	B;D;P	0.66979	0.406;0.948;0.712	D	0.86406	0.1745	10	0.72032	D	0.01	-36.6819	15.2422	0.73480	0.0:0.0:0.0:1.0	.	996;736;738	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	996;738;736	ENSP00000384197:M996K;ENSP00000439990:M738K;ENSP00000298919:M736K	ENSP00000298919:M736K	M	+	2	0	PDZRN4	40253835	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.182000	0.71995	2.145000	0.66743	0.455000	0.32223	ATG		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		13	48	0	0	0	1	0	13	48				
CNGA2	1260	broad.mit.edu	37	X	150912151	150912151	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:150912151G>A	ENST00000329903.4	+	6	1209	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	392					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCGATGCCGTGAAACACTACA	0.512																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1174-1176)gtG>gtA		cyclic nucleotide gated channel alpha 2							104.0	92.0	96.0					X																	150912151		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912151G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1176G>A	X.37:g.150912151G>A							p.V392V	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1209	+	Acute lymphoblastic leukemia(192;6.56e-05)		392					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.1176G>A	CCDS14701.1																																																																																				0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		20	41	0	0	0	1	0	20	41				
PIK3CG	5294	broad.mit.edu	37	7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCAGACCCGGCCCTAGAC	0.587																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(937-939)cCg>cTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							56.0	53.0	54.0					7																	106508944		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508944C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.938C>T	7.37:g.106508944C>T	ENSP00000352121:p.Pro313Leu					PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L	p.P313L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1248	+			313					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.938C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.728	0.135454	0.09032	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.68181	-0.31;-0.31;-0.31	5.75	5.75	0.90469	.	0.047482	0.85682	D	0.000000	T	0.62575	0.2439	L	0.48362	1.52	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.55579	-0.8119	10	0.24483	T	0.36	-17.0025	19.9421	0.97168	0.0:1.0:0.0:0.0	.	313	P48736	PK3CG_HUMAN	L	313	ENSP00000392258:P313L;ENSP00000419260:P313L;ENSP00000352121:P313L	ENSP00000352121:P313L	P	+	2	0	PIK3CG	106296180	1.000000	0.71417	0.967000	0.41034	0.035000	0.12851	6.044000	0.71012	2.714000	0.92807	0.561000	0.74099	CCG		0.587	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			8	69	0	0	0	1	0	8	69				
ITPR3	3710	broad.mit.edu	37	6	33660511	33660511	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:33660511C>G	ENST00000374316.5	+	56	8525	c.7465C>G	c.(7465-7467)Ctc>Gtc	p.L2489V	ITPR3_ENST00000605930.1_Missense_Mutation_p.L2489V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2489					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCAGGAGTCTCTCTTCCCAGC	0.557																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7465-7467)Ctc>Gtc		inositol 1,4,5-trisphosphate receptor, type 3							144.0	120.0	128.0					6																	33660511		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33660511C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7465C>G	6.37:g.33660511C>G	ENSP00000363435:p.Leu2489Val					ITPR3_ENST00000605930.1_Missense_Mutation_p.L2489V	p.L2489V			Q14573	ITPR3_HUMAN			56	8525	+			2489					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7465C>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411830	0.62511	.	.	ENSG00000096433	ENST00000374316	D	0.98455	-4.94	5.48	5.48	0.80851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	M	0.81497	2.545	0.58432	D	0.999995	D;D	0.76494	0.999;0.992	D;D	0.83275	0.996;0.96	D	0.99777	1.1026	10	0.72032	D	0.01	-33.3358	14.6101	0.68510	0.0:0.9282:0.0:0.0718	.	2489;2159	Q14573;Q59ES2	ITPR3_HUMAN;.	V	2489	ENSP00000363435:L2489V	ENSP00000363435:L2489V	L	+	1	0	ITPR3	33768489	0.942000	0.31987	0.968000	0.41197	0.553000	0.35397	1.950000	0.40323	2.564000	0.86499	0.561000	0.74099	CTC		0.557	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		14	73	0	0	0	1	0	14	73				
PCED1A	64773	broad.mit.edu	37	20	2819590	2819590	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:2819590G>A	ENST00000360652.2	-	4	845	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	PCED1A_ENST00000356872.3_Intron|VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	115								p.R115S(1)									GAGTAAACACGAGTGAGGAAG	0.587																																						ENST00000360652.2																			1	Substitution - Missense(1)	p.R115S(1)	lung(1)								c.(343-345)Cgt>Tgt		PC-esterase domain containing 1A							95.0	91.0	92.0					20																	2819590		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2819590G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.343C>T	20.37:g.2819590G>A	ENSP00000353868:p.Arg115Cys					PCED1A_ENST00000356872.3_Intron	p.R115C	NM_022760.3	NP_073597.2					4	845	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.343C>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912373	0.72983	.	.	ENSG00000132635	ENST00000360652;ENST00000380531;ENST00000439542	T;T	0.19394	2.15;2.15	3.89	3.89	0.44902	.	0.078485	0.52532	D	0.000061	T	0.50171	0.1600	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60260	-0.7298	10	0.87932	D	0	-6.4294	13.7632	0.62979	0.0:0.0:1.0:0.0	.	115	Q9H1Q7	F113A_HUMAN	C	115	ENSP00000353868:R115C;ENSP00000401711:R115C	ENSP00000353868:R115C	R	-	1	0	FAM113A	2767590	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.309000	0.59135	2.197000	0.70478	0.555000	0.69702	CGT		0.587	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		21	103	0	0	0	1	0	21	103				
GDF5	8200	broad.mit.edu	37	20	34022455	34022455	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:34022455G>A	ENST00000374372.1	-	4	1261	c.758C>T	c.(757-759)gCg>gTg	p.A253V	GDF5_ENST00000374369.3_Missense_Mutation_p.A253V|GDF5OS_ENST00000374375.1_Missense_Mutation_p.A167T			P43026	GDF5_HUMAN	growth differentiation factor 5	253					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)			TCCGGGGGCCGCTGGCTTGGC	0.697																																						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.(757-759)gCg>gTg		growth differentiation factor 5							24.0	29.0	27.0					20																	34022455		2195	4283	6478	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022455G>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.758C>T	20.37:g.34022455G>A	ENSP00000363492:p.Ala253Val					GDF5OS_ENST00000374375.1_Missense_Mutation_p.A167T|GDF5_ENST00000374369.3_Missense_Mutation_p.A253V	p.A253V			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		4	1261	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		253					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.758C>T	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.521|9.521	1.108180|1.108180	0.20714|0.20714	.|.	.|.	ENSG00000204183|ENSG00000125965	ENST00000374375|ENST00000374369;ENST00000374372	.|T;T	.|0.79554	.|-1.28;-1.28	4.66|4.66	-5.64|-5.64	0.02466|0.02466	.|Transforming growth factor-beta, N-terminal (1);	2.111490|2.111490	0.02249|0.02249	N|N	0.066439|0.066439	T|T	0.64125|0.64125	0.2570|0.2570	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.06405	.|0.002;0.002	T|T	0.52624|0.52624	-0.8551|-0.8551	7|10	0.87932|0.11182	D|T	0|0.66	.|.	4.4498|4.4498	0.11614|0.11614	0.6445:0.0874:0.1527:0.1154|0.6445:0.0874:0.1527:0.1154	.|.	.|253;253	.|F1T0J1;P43026	.|.;GDF5_HUMAN	T|V	167|253	.|ENSP00000363489:A253V;ENSP00000363492:A253V	ENSP00000363495:A167T|ENSP00000363489:A253V	A|A	+|-	1|2	0|0	GDF5OS|GDF5	33485869|33485869	0.118000|0.118000	0.22208|0.22208	0.821000|0.821000	0.32701|0.32701	0.206000|0.206000	0.24218|0.24218	-0.033000|-0.033000	0.12246|0.12246	-1.279000|-1.279000	0.02405|0.02405	-0.224000|-0.224000	0.12420|0.12420	GCT|GCG		0.697	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			15	46	0	0	0	1	0	15	46				
POM121L12	285877	broad.mit.edu	37	7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A	rs200929126	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146								p.R146H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCCTGAGCGTCAGGAGAGC	0.711													G|||	2	0.000399361	0.0008	0.0	5008	,	,		11241	0.0		0.001	False		,,,				2504	0.0					ENST00000408890.4																			1	Substitution - Missense(1)	p.R146H(1)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(436-438)cGt>cAt		POM121 transmembrane nucleoporin-like 12							18.0	22.0	21.0					7																	53103801		1923	4092	6015	SO:0001583	missense	285877							g.chr7:53103801G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.437G>A	7.37:g.53103801G>A	ENSP00000386133:p.Arg146His						p.R146H	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	453	+			146					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.437G>A	CCDS43584.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.394	0.440778	0.12104	.	.	ENSG00000221900	ENST00000408890	T	0.24723	1.84	1.37	-1.98	0.07480	.	.	.	.	.	T	0.17408	0.0418	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	9	0.30078	T	0.28	.	5.2756	0.15647	0.5589:0.0:0.4411:0.0	.	146	Q8N7R1	P1L12_HUMAN	H	146	ENSP00000386133:R146H	ENSP00000386133:R146H	R	+	2	0	POM121L12	53071295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.211000	0.02997	-0.736000	0.04831	-2.126000	0.00345	CGT		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		7	26	0	0	0	1	0	7	26				
ITGA3	3675	broad.mit.edu	37	17	48154800	48154800	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:48154800C>T	ENST00000320031.8	+	16	2458	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	ITGA3_ENST00000007722.7_Missense_Mutation_p.R710W	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	710					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCCCTTCAAACGGAACCAGAG	0.602																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2128-2130)Cgg>Tgg		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							94.0	88.0	90.0					17																	48154800		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48154800C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2128C>T	17.37:g.48154800C>T	ENSP00000315190:p.Arg710Trp					ITGA3_ENST00000007722.7_Missense_Mutation_p.R710W	p.R710W	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			16	2458	+			710					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2128C>T	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.155568|4.155568	0.78114|0.78114	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031|ENST00000506827	T;T|.	0.53423|.	0.62;0.62|.	5.32|5.32	0.333|0.333	0.15943|0.15943	Integrin alpha-2 (1);|.	0.341325|.	0.32372|.	N|.	0.006195|.	T|T	0.74726|0.74726	0.3754|0.3754	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.997|.	P;P|.	0.60345|.	0.855;0.873|.	T|T	0.77297|0.77297	-0.2640|-0.2640	10|5	0.87932|.	D|.	0|.	.|.	14.2969|14.2969	0.66318|0.66318	0.732:0.268:0.0:0.0|0.732:0.268:0.0:0.0	.|.	710;710|.	P26006-1;P26006|.	.;ITA3_HUMAN|.	W|M	710;696;710|88	ENSP00000007722:R710W;ENSP00000315190:R710W|.	ENSP00000007722:R710W|.	R|T	+|+	1|2	2|0	ITGA3|ITGA3	45509799|45509799	0.984000|0.984000	0.35163|0.35163	0.999000|0.999000	0.59377|0.59377	0.971000|0.971000	0.66376|0.66376	0.226000|0.226000	0.17776|0.17776	0.288000|0.288000	0.22398|0.22398	0.563000|0.563000	0.77884|0.77884	CGG|ACG		0.602	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		21	75	0	0	0	1	0	21	75				
CDK13	8621	broad.mit.edu	37	7	40039015	40039015	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:40039015C>T	ENST00000181839.4	+	4	2703	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R700C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	700			R -> L (in dbSNP:rs1057000). {ECO:0000269|PubMed:11162436, ECO:0000269|PubMed:1731328}.		alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R700G(1)|p.L700V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGGGGAAAACGCTGCGTGGA	0.358																																						ENST00000181839.4																			2	Substitution - Missense(2)	p.R700G(1)|p.L700V(1)	prostate(2)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2098-2100)Cgc>Tgc		cyclin-dependent kinase 13							105.0	110.0	108.0					7																	40039015		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40039015C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2098C>T	7.37:g.40039015C>T	ENSP00000181839:p.Arg700Cys					CDK13_ENST00000340829.5_Missense_Mutation_p.R700C|CDK13_ENST00000484589.1_3'UTR	p.R700C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			4	2703	+			700		R -> L (in dbSNP:rs1057000).			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2098C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516506	0.85495	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.45668	0.89;0.89	5.43	5.43	0.79202	Protein kinase-like domain (1);	.	.	.	.	T	0.64702	0.2622	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.87578	0.899;0.998;0.988	T	0.62849	-0.6767	8	.	.	.	-6.8082	19.2537	0.93935	0.0:1.0:0.0:0.0	.	86;700;700	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	C	700	ENSP00000181839:R700C;ENSP00000340557:R700C	.	R	+	1	0	CDK13	40005540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	2.552000	0.86080	0.643000	0.83706	CGC		0.358	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		21	60	0	0	0	1	0	21	60				
OR8S1	341568	broad.mit.edu	37	12	48919952	48919952	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:48919952G>C	ENST00000310194.1	+	1	538	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTACAGCTATGAGATGCCATC	0.512																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(538-540)Gag>Cag		olfactory receptor, family 8, subfamily S, member 1							191.0	164.0	173.0					12																	48919952		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919952G>C		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.538G>C	12.37:g.48919952G>C	ENSP00000310632:p.Glu180Gln					OR8S1_ENST00000551654.1_Intron	p.E180Q	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	538	+			180						Missense_Mutation	SNP	ENST00000310194.1	37	c.538G>C	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843253	0.71488	.	.	ENSG00000197376	ENST00000310194	T	0.00216	8.53	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000865	T	0.00815	0.0027	M	0.93016	3.37	0.26024	N	0.981839	D	0.71674	0.998	D	0.76071	0.987	T	0.25676	-1.0125	10	0.87932	D	0	-46.2261	15.9065	0.79433	0.0:0.0:1.0:0.0	.	180	Q8NH09	OR8S1_HUMAN	Q	180	ENSP00000310632:E180Q	ENSP00000310632:E180Q	E	+	1	0	OR8S1	47206219	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.659000	0.54489	2.604000	0.88044	0.655000	0.94253	GAG		0.512	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			18	78	0	0	0	1	0	18	78				
TFPI2	7980	broad.mit.edu	37	7	93519569	93519569	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:93519569G>A	ENST00000222543.5	-	2	463	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Missense_Mutation_p.R51C	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	51	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAGTAGTAACGGAGAAGTAGG	0.577																																						ENST00000222543.5																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(151-153)Cgt>Tgt		tissue factor pathway inhibitor 2							41.0	44.0	43.0					7																	93519569		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519569G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.151C>T	7.37:g.93519569G>A	ENSP00000222543:p.Arg51Cys					TFPI2_ENST00000545378.1_Missense_Mutation_p.R51C|GNGT1_ENST00000455502.1_Intron	p.R51C	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	463	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		51			BPTI/Kunitz inhibitor 1.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.151C>T	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967426	0.53507	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.63096	-0.02;-0.02	5.07	1.1	0.20463	Proteinase inhibitor I2, Kunitz metazoa (5);	0.531743	0.23002	N	0.053062	T	0.81772	0.4893	M	0.93197	3.39	0.09310	N	0.99999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	P;D;P;D	0.63033	0.892;0.91;0.899;0.91	T	0.78051	-0.2355	10	0.87932	D	0	.	15.6827	0.77385	0.0:0.0:0.6517:0.3482	.	22;40;51;51	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	C	51	ENSP00000222543:R51C;ENSP00000438861:R51C	ENSP00000222543:R51C	R	-	1	0	TFPI2	93357505	0.998000	0.40836	0.002000	0.10522	0.013000	0.08279	1.130000	0.31393	0.017000	0.15025	-0.823000	0.03104	CGT		0.577	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		16	66	0	0	0	1	0	16	66				
MAN2C1	4123	broad.mit.edu	37	15	75660449	75660449	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:75660449G>A	ENST00000267978.5	-	2	238	c.192C>T	c.(190-192)ttC>ttT	p.F64F	MAN2C1_ENST00000569482.1_Silent_p.F64F|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000565683.1_Silent_p.F64F|MAN2C1_ENST00000563622.1_Silent_p.F64F|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	64					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCGCGGGGCGGAAGTCCCGCT	0.687																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(190-192)ttC>ttT		mannosidase, alpha, class 2C, member 1							10.0	14.0	13.0					15																	75660449		2185	4281	6466	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75660449G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.192C>T	15.37:g.75660449G>A						MAN2C1_ENST00000267978.5_Silent_p.F64F|MAN2C1_ENST00000569482.1_Silent_p.F64F|MAN2C1_ENST00000563622.1_Silent_p.F64F|MAN2C1_ENST00000563539.1_5'UTR	p.F64F	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			2	203	-			64					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.192C>T	CCDS32298.1																																																																																				0.687	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			3	7	0	0	0	1	0	3	7				
CLCNKA	1187	broad.mit.edu	37	1	16357119	16357119	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:16357119C>G	ENST00000331433.4	+	15	1591	c.1572C>G	c.(1570-1572)atC>atG	p.I524M	CLCNKA_ENST00000375692.1_Missense_Mutation_p.I524M|CLCNKA_ENST00000439316.2_Missense_Mutation_p.I481M|CLCNKA_ENST00000420078.1_Missense_Mutation_p.I524M|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	524					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGGCACCATCATTGTCAAGA	0.602																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1570-1572)atC>atG		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						52.0	45.0	47.0					1																	16357119		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16357119C>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1572C>G	1.37:g.16357119C>G	ENSP00000332771:p.Ile524Met					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.I524M|CLCNKA_ENST00000439316.2_Missense_Mutation_p.I481M|CLCNKA_ENST00000420078.1_Missense_Mutation_p.I524M	p.I524M			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1700	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	524					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1572C>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488999	0.26686	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	3.89	3.89	0.44902	Chloride channel, core (2);	0.250822	0.41823	D	0.000820	D	0.95850	0.8649	M	0.85462	2.755	0.42529	D	0.993037	D;P;P;P	0.59357	0.985;0.726;0.726;0.726	D;P;P;P	0.64237	0.923;0.718;0.474;0.474	D	0.95764	0.8803	10	0.87932	D	0	.	8.8798	0.35367	0.0:0.8932:0.0:0.1068	.	260;481;524;524	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	M	524;524;481;524	ENSP00000364844:I524M;ENSP00000410353:I524M;ENSP00000414445:I481M;ENSP00000332771:I524M	ENSP00000332771:I524M	I	+	3	3	CLCNKA	16229706	0.168000	0.22989	0.984000	0.44739	0.033000	0.12548	0.751000	0.26348	2.157000	0.67596	0.313000	0.20887	ATC		0.602	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			16	50	0	0	0	1	0	16	50				
DAAM2	23500	broad.mit.edu	37	6	39864721	39864721	+	Silent	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:39864721C>G	ENST00000398904.2	+	20	2657	c.2475C>G	c.(2473-2475)ctC>ctG	p.L825L	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Silent_p.L825L|DAAM2_ENST00000274867.4_Silent_p.L825L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	825	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCCAGCCTCAACAAGATCG	0.587																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2473-2475)ctC>ctG		dishevelled associated activator of morphogenesis 2							40.0	46.0	44.0					6																	39864721		2049	4184	6233	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864721C>G	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2475C>G	6.37:g.39864721C>G						DAAM2_ENST00000398904.2_Silent_p.L825L|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Silent_p.L825L	p.L825L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			20	2657	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		825			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2475C>G	CCDS56426.1																																																																																				0.587	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			13	32	0	0	0	1	0	13	32				
SURF4	6836	broad.mit.edu	37	9	136231752	136231752	+	Missense_Mutation	SNP	G	G	C	rs143747201		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:136231752G>C	ENST00000371989.3	-	5	636	c.507C>G	c.(505-507)ttC>ttG	p.F169L	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Missense_Mutation_p.F169L|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	169					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GGAGGGTCATGAACATCAGAA	0.557																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(505-507)ttC>ttG		surfeit 4							101.0	81.0	88.0					9																	136231752		2203	4300	6503	SO:0001583	missense	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136231752G>C		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.507C>G	9.37:g.136231752G>C	ENSP00000361057:p.Phe169Leu					SURF4_ENST00000371991.3_Missense_Mutation_p.F169L|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	p.F169L	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	636	-			169					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	c.507C>G	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561194	0.86335	.	.	ENSG00000148248	ENST00000371989;ENST00000541390;ENST00000371991	.	.	.	5.08	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.86028	2.79	0.80722	D	1	D;D	0.60575	0.988;0.988	P;D	0.63877	0.893;0.919	T	0.81697	-0.0815	9	0.87932	D	0	-4.169	12.0221	0.53350	0.0837:0.0:0.9163:0.0	.	160;169	B7Z7A8;O15260	.;SURF4_HUMAN	L	169;160;169	.	ENSP00000361057:F169L	F	-	3	2	SURF4	135221573	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.623000	0.67757	2.360000	0.80028	0.484000	0.47621	TTC		0.557	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		8	32	0	0	0	1	0	8	32				
EP400	57634	broad.mit.edu	37	12	132471207	132471207	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:132471207C>T	ENST00000333577.4	+	7	2295	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	EP400_ENST00000389562.2_Missense_Mutation_p.S692L|EP400_ENST00000330386.6_Missense_Mutation_p.S693L|EP400_ENST00000332482.4_Missense_Mutation_p.S656L|EP400_ENST00000389561.2_Missense_Mutation_p.S693L			Q96L91	EP400_HUMAN	E1A binding protein p400	729					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACCTTCCTCAGCCACCAAT	0.622																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2185-2187)tCa>tTa		E1A binding protein p400							105.0	96.0	99.0					12																	132471207		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132471207C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2186C>T	12.37:g.132471207C>T	ENSP00000333602:p.Ser729Leu					EP400_ENST00000330386.6_Missense_Mutation_p.S693L|EP400_ENST00000332482.4_Missense_Mutation_p.S656L|EP400_ENST00000389561.2_Missense_Mutation_p.S693L|EP400_ENST00000389562.2_Missense_Mutation_p.S692L	p.S729L			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	7	2295	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	729					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2186C>T		.	.	.	.	.	.	.	.	.	.	C	10.76	1.441615	0.25900	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90788	-2.71;-2.71;-2.73;-2.73;-2.73	5.71	4.83	0.62350	.	0.357378	0.29846	N	0.011051	D	0.85243	0.5652	L	0.34521	1.04	0.33040	D	0.531376	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.002	B;B;B;B;B	0.09377	0.003;0.003;0.003;0.004;0.003	T	0.83287	-0.0035	10	0.26408	T	0.33	.	14.7387	0.69437	0.0:0.9307:0.0:0.0693	.	693;693;692;729;656	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	L	656;729;693;692;656;693;729;693;693	ENSP00000333602:S729L;ENSP00000374212:S693L;ENSP00000374213:S692L;ENSP00000331737:S656L;ENSP00000330620:S693L	ENSP00000330620:S693L	S	+	2	0	EP400	131037160	0.035000	0.19736	0.747000	0.31113	0.167000	0.22549	1.835000	0.39181	1.421000	0.47157	0.563000	0.77884	TCA		0.622	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		30	122	0	0	0	1	0	30	122				
NEK1	4750	broad.mit.edu	37	4	170327760	170327760	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:170327760C>G	ENST00000439128.2	-	30	3917	c.3277G>C	c.(3277-3279)Gat>Cat	p.D1093H	NEK1_ENST00000507142.1_Missense_Mutation_p.D1121H|NEK1_ENST00000512193.1_Missense_Mutation_p.D1024H|NEK1_ENST00000511633.1_Missense_Mutation_p.D1077H|NEK1_ENST00000510533.1_Missense_Mutation_p.D1049H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1093					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTTCAGAATCAGAAGGTCCT	0.328																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(3277-3279)Gat>Cat		NIMA-related kinase 1							60.0	54.0	56.0					4																	170327760		1813	4076	5889	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170327760C>G	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3277G>C	4.37:g.170327760C>G	ENSP00000408020:p.Asp1093His					NEK1_ENST00000510533.1_Missense_Mutation_p.D1049H|NEK1_ENST00000507142.1_Missense_Mutation_p.D1121H|NEK1_ENST00000511633.1_Missense_Mutation_p.D1077H|NEK1_ENST00000512193.1_Missense_Mutation_p.D1024H	p.D1093H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	30	3917	-		Prostate(90;0.00601)|Renal(120;0.0183)	1093					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.3277G>C	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774999	0.70107	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000007	T	0.71995	0.3406	M	0.67953	2.075	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.994;0.997;0.987	T	0.75722	-0.3218	10	0.87932	D	0	.	18.383	0.90457	0.0:1.0:0.0:0.0	.	1024;1077;1121;1049;1093	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	H	1093;1077;1049;1121;1024	ENSP00000408020:D1093H;ENSP00000423332:D1077H;ENSP00000427653:D1049H;ENSP00000424757:D1121H;ENSP00000424938:D1024H	ENSP00000408020:D1093H	D	-	1	0	NEK1	170564335	1.000000	0.71417	0.999000	0.59377	0.687000	0.40016	6.430000	0.73391	2.393000	0.81446	0.591000	0.81541	GAT		0.328	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			4	23	0	0	0	1	0	4	23				
NXN	64359	broad.mit.edu	37	17	725684	725684	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:725684C>T	ENST00000336868.3	-	4	717	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.R101Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000577098.1_5'Flank	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	209	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGTGAGGCTTCGGCAGGGCGG	0.602																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(625-627)cGa>cAa		nucleoredoxin							85.0	65.0	72.0					17																	725684		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:725684C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.626G>A	17.37:g.725684C>T	ENSP00000337443:p.Arg209Gln					NXN_ENST00000575801.1_Missense_Mutation_p.R101Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR	p.R209Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	4	717	-			209			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.626G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499472	0.85069	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.80909	-1.43	5.94	5.94	0.96194	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.108809	0.64402	D	0.000004	D	0.89719	0.6796	M	0.83483	2.645	0.80722	D	1	P;D;D	0.76494	0.814;0.998;0.999	B;P;P	0.60415	0.114;0.744;0.874	D	0.90299	0.4328	10	0.72032	D	0.01	-3.2883	19.3475	0.94370	0.0:1.0:0.0:0.0	.	101;96;209	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	Q	209;101	ENSP00000337443:R209Q	ENSP00000337443:R209Q	R	-	2	0	NXN	672434	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.972000	0.70448	2.816000	0.96949	0.563000	0.77884	CGA		0.602	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			10	37	0	0	0	1	0	10	37				
FBXL7	23194	broad.mit.edu	37	5	15937205	15937205	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:15937205G>T	ENST00000504595.1	+	4	1867	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H	FBXL7_ENST00000510662.1_Missense_Mutation_p.Q415H|FBXL7_ENST00000329673.7_Missense_Mutation_p.Q450H|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	462					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGAATGTCCAGGACTGCGAGG	0.612																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1384-1386)caG>caT		F-box and leucine-rich repeat protein 7							31.0	35.0	34.0					5																	15937205		2104	4229	6333	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937205G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1386G>T	5.37:g.15937205G>T	ENSP00000423630:p.Gln462His					FBXL7_ENST00000510662.1_Missense_Mutation_p.Q415H|FBXL7_ENST00000329673.7_Missense_Mutation_p.Q450H	p.Q462H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1867	+			462					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1386G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089910	0.76756	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.53423	0.62;0.62;0.62	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66921	-0.5801	10	0.15499	T	0.54	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	462	Q9UJT9	FBXL7_HUMAN	H	462;415;450	ENSP00000423630:Q462H;ENSP00000425184:Q415H;ENSP00000329632:Q450H	ENSP00000329632:Q450H	Q	+	3	2	FBXL7	15990205	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.905000	0.63286	2.521000	0.84997	0.650000	0.86243	CAG		0.612	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		7	21	1	0	8.12818e-05	1	8.24056e-05	7	21				
MAP1B	4131	broad.mit.edu	37	5	71490923	71490923	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:71490923G>C	ENST00000296755.7	+	5	2039	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	581					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCCAAAGTTGAAAGCAAAGA	0.443																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1741-1743)Gaa>Caa		microtubule-associated protein 1B							48.0	50.0	49.0					5																	71490923		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490923G>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1741G>C	5.37:g.71490923G>C	ENSP00000296755:p.Glu581Gln						p.E581Q	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2039	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	581					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.1741G>C	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083833	0.76642	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04049	3.72;3.72;3.72	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	T	0.20455	0.0492	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.00015	-1.2397	10	0.52906	T	0.07	-18.875	20.063	0.97692	0.0:0.0:1.0:0.0	.	455;581	A2BDK6;P46821	.;MAP1B_HUMAN	Q	581;598;455	ENSP00000296755:E581Q;ENSP00000423444:E598Q;ENSP00000423416:E455Q	ENSP00000296755:E581Q	E	+	1	0	MAP1B	71526679	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.427000	0.73378	2.741000	0.93983	0.650000	0.86243	GAA		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		6	37	0	0	0	1	0	6	37				
DGKH	160851	broad.mit.edu	37	13	42701667	42701667	+	Silent	SNP	C	C	T	rs140398882		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:42701667C>T	ENST00000337343.4	+	2	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F	DGKH_ENST00000261491.5_Silent_p.F87F|DGKH_ENST00000540693.1_Silent_p.F87F|DGKH_ENST00000379274.2_5'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGCGATACTTCAAACTTCGAG	0.408																																						ENST00000337343.4																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(259-261)ttC>ttT		diacylglycerol kinase, eta							102.0	90.0	94.0					13																	42701667		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42701667C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.261C>T	13.37:g.42701667C>T						DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000540693.1_Silent_p.F87F|DGKH_ENST00000261491.4_Silent_p.F87F	p.F87F	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	2	282	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	87			PH.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.261C>T	CCDS9381.1																																																																																				0.408	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		6	29	0	0	0	1	0	6	29				
SHD	56961	broad.mit.edu	37	19	4283194	4283194	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:4283194C>A	ENST00000543264.2	+	3	2010	c.547C>A	c.(547-549)Cag>Aag	p.Q183K	SHD_ENST00000599689.1_Missense_Mutation_p.Q183K	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	183										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTATGATCAGCCCTGGGA	0.577																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(547-549)Cag>Aag		Src homology 2 domain containing transforming protein D							59.0	56.0	57.0					19																	4283194		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4283194C>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.547C>A	19.37:g.4283194C>A	ENSP00000446058:p.Gln183Lys					SHD_ENST00000599689.1_Missense_Mutation_p.Q183K	p.Q183K	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	3	2010	+			183					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.547C>A	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179515	0.94846	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.34072	1.38	5.47	5.47	0.80525	.	0.120841	0.64402	D	0.000015	T	0.59142	0.2172	M	0.79475	2.455	0.50313	D	0.999862	D;D	0.63046	0.976;0.992	P;P	0.61722	0.864;0.893	T	0.60811	-0.7189	10	0.49607	T	0.09	-14.0098	16.8201	0.85743	0.0:1.0:0.0:0.0	.	90;183	Q9NPN8;Q96IW2	.;SHD_HUMAN	K	183;98	ENSP00000446058:Q183K	ENSP00000221852:Q98K	Q	+	1	0	SHD	4234194	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.450000	0.80656	2.573000	0.86826	0.448000	0.29417	CAG		0.577	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		10	55	1	0	3.86212e-05	1	3.95194e-05	10	55				
CAMK1G	57172	broad.mit.edu	37	1	209786148	209786148	+	Silent	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:209786148C>A	ENST00000009105.1	+	12	1604	c.1359C>A	c.(1357-1359)gtC>gtA	p.V453V	CAMK1G_ENST00000361322.2_Silent_p.V453V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	453						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCGGAGGTCATGGTACCAG	0.517																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(1357-1359)gtC>gtA		calcium/calmodulin-dependent protein kinase IG							109.0	106.0	107.0					1																	209786148		2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209786148C>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1359C>A	1.37:g.209786148C>A						CAMK1G_ENST00000361322.2_Silent_p.V453V	p.V453V			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	12	1604	+			453					Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.1359C>A	CCDS1486.1																																																																																				0.517	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		21	74	1	0	1.90627e-21	1	2.08646e-21	21	74				
TRRAP	8295	broad.mit.edu	37	7	98524949	98524949	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:98524949G>C	ENST00000359863.4	+	23	3344	c.3135G>C	c.(3133-3135)ttG>ttC	p.L1045F	TRRAP_ENST00000446306.3_Missense_Mutation_p.L1044F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L1045F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1045					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCCAGCTTGATCCGCCACT	0.592																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3133-3135)ttG>ttC		transformation/transcription domain-associated protein							26.0	27.0	27.0					7																	98524949		2203	4299	6502	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98524949G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3135G>C	7.37:g.98524949G>C	ENSP00000352925:p.Leu1045Phe					TRRAP_ENST00000355540.3_Missense_Mutation_p.L1045F|TRRAP_ENST00000446306.3_Missense_Mutation_p.L1044F	p.L1045F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	3344	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1045					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3135G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115325|4.115325	0.77323|0.77323	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.74002|.	-0.8;-0.8|.	5.66|5.66	2.43|2.43	0.29744|0.29744	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.43077|.	0.1231|.	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999991|0.999991	D;P;D|.	0.63880|.	0.993;0.55;0.978|.	P;B;P|.	0.54460|.	0.753;0.062;0.528|.	T|.	0.15464|.	-1.0436|.	10|.	0.72032|.	D|.	0.01|.	.|.	6.1238|6.1238	0.20167|0.20167	0.178:0.0:0.5608:0.2612|0.178:0.0:0.5608:0.2612	.|.	1045;759;1045|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	F|S	1045;1045;1043|760	ENSP00000352925:L1045F;ENSP00000347733:L1045F|.	ENSP00000347733:L1045F|.	L|X	+|+	3|2	2|2	TRRAP|TRRAP	98362885|98362885	0.360000|0.360000	0.24964|0.24964	0.960000|0.960000	0.40013|0.40013	0.962000|0.962000	0.63368|0.63368	-0.241000|-0.241000	0.08940|0.08940	0.725000|0.725000	0.32318|0.32318	0.585000|0.585000	0.79938|0.79938	TTG|TGA		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	21	0	0	0	1	0	4	21				
MGARP	84709	broad.mit.edu	37	4	140196470	140196470	+	Silent	SNP	G	G	A	rs199662606		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:140196470G>A	ENST00000398955.1	-	2	338	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	53					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											TGACTGTGACGCCTACAACCA	0.378																																						ENST00000398955.1																			0											c.(157-159)ggC>ggT		mitochondria-localized glutamic acid-rich protein		G		0,3854		0,0,1927	115.0	106.0	109.0		159	-1.1	1.0	4		109	1,8261		0,1,4130	no	coding-synonymous	C4orf49	NM_032623.3		0,1,6057	AA,AG,GG		0.0121,0.0,0.0083		53/241	140196470	1,12115	1927	4131	6058	SO:0001819	synonymous_variant	84709					integral to membrane		g.chr4:140196470G>A	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.159C>T	4.37:g.140196470G>A							p.G53G	NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN			2	338	-			53					Q9BZC3	Silent	SNP	ENST00000398955.1	37	c.159C>T	CCDS43269.1																																																																																				0.378	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		9	71	0	0	0	1	0	9	71				
RGPD3	653489	broad.mit.edu	37	2	107049685	107049685	+	Silent	SNP	G	G	C	rs375382157		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:107049685G>C	ENST00000409886.3	-	16	2349	c.2262C>G	c.(2260-2262)ctC>ctG	p.L754L	RGPD3_ENST00000304514.7_Silent_p.L754L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	754					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TATAGTTTTCGAGTTCCTGCA	0.368																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2260-2262)ctC>ctG		RANBP2-like and GRIP domain containing 3							143.0	118.0	126.0					2																	107049685		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049685G>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2262C>G	2.37:g.107049685G>C						RGPD3_ENST00000304514.7_Silent_p.L754L	p.L754L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2349	-			754					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2262C>G	CCDS46379.1																																																																																				0.368	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		36	220	0	0	0	1	0	36	220				
SLC6A3	6531	broad.mit.edu	37	5	1406340	1406340	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:1406340C>T	ENST00000270349.9	-	12	1689	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R521Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	521					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAGCACAGCCGCCAGTACAG	0.657																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1561-1563)cGg>cAg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						61.0	60.0	61.0					5																	1406340		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406340C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1562G>A	5.37:g.1406340C>T	ENSP00000270349:p.Arg521Gln					SLC6A3_ENST00000453492.2_Missense_Mutation_p.R521Q	p.R521Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1689	-			521					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1562G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.304718	0.81247	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74842	-0.88;-0.88	4.19	4.19	0.49359	.	0.191201	0.40469	N	0.001097	D	0.84234	0.5427	M	0.73372	2.23	0.49798	D	0.999828	D	0.89917	1.0	D	0.83275	0.996	D	0.85224	0.1028	10	0.49607	T	0.09	.	14.03	0.64609	0.0:1.0:0.0:0.0	.	521	Q01959	SC6A3_HUMAN	Q	521	ENSP00000270349:R521Q;ENSP00000399806:R521Q	ENSP00000270349:R521Q	R	-	2	0	SLC6A3	1459340	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.266000	0.65525	1.904000	0.55121	0.298000	0.19748	CGG		0.657	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		24	83	0	0	0	1	0	24	83				
ELOVL3	83401	broad.mit.edu	37	10	103988638	103988638	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:103988638C>T	ENST00000370005.3	+	4	663	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	148					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TCACTGGTACCACCACAGCAC	0.512																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(442-444)Cac>Tac		ELOVL fatty acid elongase 3							150.0	139.0	143.0					10																	103988638		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988638C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.442C>T	10.37:g.103988638C>T	ENSP00000359022:p.His148Tyr						p.H148Y	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	663	+		Colorectal(252;0.207)	148					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.442C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596040	0.86953	.	.	ENSG00000119915	ENST00000370005	T	0.50277	0.75	5.24	4.32	0.51571	.	0.000000	0.64402	D	0.000006	T	0.77011	0.4068	H	0.96048	3.76	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	D	0.83975	0.0329	10	0.87932	D	0	-37.5833	12.983	0.58575	0.0:0.9189:0.0:0.0811	.	148	Q9HB03	ELOV3_HUMAN	Y	148	ENSP00000359022:H148Y	ENSP00000359022:H148Y	H	+	1	0	ELOVL3	103978628	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.081000	0.71309	2.426000	0.82243	0.561000	0.74099	CAC		0.512	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		38	126	0	0	0	1	0	38	126				
PPP1R14C	81706	broad.mit.edu	37	6	150535945	150535945	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:150535945G>A	ENST00000361131.4	+	2	489	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	124					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GTGATGAAGAGAGAGCTTCAA	0.423																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(370-372)gaG>gaA		protein phosphatase 1, regulatory (inhibitor) subunit 14C							117.0	116.0	116.0					6																	150535945		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150535945G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.372G>A	6.37:g.150535945G>A							p.E124E	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	2	489	+		Ovarian(120;0.0284)	124					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.372G>A	CCDS5226.1																																																																																				0.423	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		24	81	0	0	0	1	0	24	81				
CEP85	64793	broad.mit.edu	37	1	26581908	26581908	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:26581908C>G	ENST00000252992.4	+	4	586	c.455C>G	c.(454-456)tCt>tGt	p.S152C	CEP85_ENST00000451429.2_Missense_Mutation_p.S101C	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	152						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ATGTATTTCTCTGGTGCTACT	0.463																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(454-456)tCt>tGt		centrosomal protein 85kDa							88.0	88.0	88.0					1																	26581908		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26581908C>G	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.455C>G	1.37:g.26581908C>G	ENSP00000252992:p.Ser152Cys					CEP85_ENST00000451429.2_Missense_Mutation_p.S101C	p.S152C	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			4	586	+			152					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.455C>G	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	7.055	0.565180	0.13498	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.14516	2.5;2.73	5.42	3.51	0.40186	.	0.679326	0.16756	N	0.200838	T	0.06142	0.0159	N	0.04018	-0.295	0.31394	N	0.67747	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13072	-1.0523	10	0.36615	T	0.2	-0.7505	7.5798	0.27959	0.1206:0.3115:0.568:0.0	.	101;152;152	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	C	101;152	ENSP00000417002:S101C;ENSP00000252992:S152C	ENSP00000252992:S152C	S	+	2	0	CEP85	26454495	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	1.929000	0.40114	0.820000	0.34516	-0.171000	0.13296	TCT		0.463	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		18	81	0	0	0	1	0	18	81				
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:128750945C>T	ENST00000259523.6	+	2	1642	c.437C>T	c.(436-438)tCa>tTa	p.S146L	MYC_ENST00000377970.2_Missense_Mutation_p.S161L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAGCTCGTCTCAGAGAAGCTG	0.622		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(481-483)tCa>tTa		v-myc avian myelocytomatosis viral oncogene homolog							33.0	37.0	36.0					8																	128750945		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750945C>T		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.437C>T	8.37:g.128750945C>T	ENSP00000259523:p.Ser146Leu		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_Missense_Mutation_p.S146L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L	p.S161L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	992	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	146					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.482C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.135438	0.94517	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.66	4.66	0.58398	Transcription regulator Myc, N-terminal (1);	0.123354	0.52532	D	0.000076	T	0.54175	0.1842	M	0.79475	2.455	0.80722	D	1	D	0.58970	0.984	P	0.60173	0.87	T	0.60702	-0.7211	10	0.87932	D	0	-10.0086	17.0763	0.86587	0.0:1.0:0.0:0.0	.	146	P01106	MYC_HUMAN	L	146;160;161;160;127	ENSP00000259523:S146L;ENSP00000429441:S160L;ENSP00000367207:S161L;ENSP00000430235:S160L	ENSP00000259523:S146L	S	+	2	0	MYC	128820127	1.000000	0.71417	0.898000	0.35279	0.767000	0.43475	4.555000	0.60767	2.583000	0.87209	0.561000	0.74099	TCA		0.622	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			19	35	0	0	0	1	0	19	35				
KRT74	121391	broad.mit.edu	37	12	52967160	52967160	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:52967160C>G	ENST00000305620.2	-	1	449	c.402G>C	c.(400-402)caG>caC	p.Q134H	KRT74_ENST00000549343.1_Missense_Mutation_p.Q134H	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	134	Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGCGCACCTTCTGGATCTCAG	0.592																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(400-402)caG>caC		keratin 74							116.0	112.0	114.0					12																	52967160		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52967160C>G	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.402G>C	12.37:g.52967160C>G	ENSP00000307240:p.Gln134His					KRT74_ENST00000305620.2_Missense_Mutation_p.Q134H	p.Q134H			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	440	-			134			Head.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.402G>C	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946128	0.53079	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.78126	-1.15;-1.15	4.39	3.5	0.40072	.	0.000000	0.33457	N	0.004890	D	0.89842	0.6832	H	0.94542	3.55	0.24658	N	0.993485	D	0.89917	1.0	D	0.87578	0.998	T	0.82402	-0.0475	10	0.87932	D	0	.	10.021	0.42044	0.0:0.783:0.1383:0.0787	.	134	Q7RTS7	K2C74_HUMAN	H	134	ENSP00000447447:Q134H;ENSP00000307240:Q134H	ENSP00000307240:Q134H	Q	-	3	2	KRT74	51253427	0.000000	0.05858	0.890000	0.34922	0.940000	0.58332	-0.112000	0.10791	1.155000	0.42497	0.555000	0.69702	CAG		0.592	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		22	90	0	0	0	1	0	22	90				
FIBCD1	84929	broad.mit.edu	37	9	133779573	133779573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:133779573G>A	ENST00000372338.4	-	7	1506	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.Q264*|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.Q422*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	422	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGCAGGTACTGCCCATTGAGG	0.612																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1264-1266)Cag>Tag		fibrinogen C domain containing 1							145.0	121.0	129.0					9																	133779573		2203	4300	6503	SO:0001587	stop_gained	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779573G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1264C>T	9.37:g.133779573G>A	ENSP00000361413:p.Gln422*					FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.Q422*|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.Q264*	p.Q422*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1506	-	all_hematologic(7;0.0028)		422			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Nonsense_Mutation	SNP	ENST00000372338.4	37	c.1264C>T	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018107	0.93404	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3907	0.83537	0.0:0.0:1.0:0.0	.	.	.	.	X	422;422;264	.	ENSP00000361412:Q264X	Q	-	1	0	FIBCD1	132769394	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.964000	0.87933	2.208000	0.71279	0.555000	0.69702	CAG		0.612	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		10	106	0	0	0	1	0	10	106				
ZNF215	7762	broad.mit.edu	37	11	6977363	6977363	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:6977363G>A	ENST00000278319.5	+	7	1743	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	ZNF215_ENST00000414517.2_Silent_p.G385G|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	385					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCAATGTGGGAAAGCCTTCT	0.383																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1153-1155)ggG>ggA		zinc finger protein 215							72.0	70.0	71.0					11																	6977363		2201	4296	6497	SO:0001819	synonymous_variant	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977363G>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1155G>A	11.37:g.6977363G>A						ZNF215_ENST00000414517.2_Silent_p.G385G|ZNF215_ENST00000529903.1_Intron	p.G385G	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1743	+			385					Q96C84	Silent	SNP	ENST00000278319.5	37	c.1155G>A	CCDS7775.1																																																																																				0.383	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			25	55	0	0	0	1	0	25	55				
TIAM1	7074	broad.mit.edu	37	21	32595799	32595799	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:32595799G>A	ENST00000286827.3	-	9	2389	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.L640F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	640					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L640I(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCAAAAGCGAGAAGCCTTTTG	0.498																																						ENST00000286827.3																			2	Substitution - Missense(2)	p.L640I(2)	large_intestine(2)	autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1918-1920)Ctc>Ttc		T-cell lymphoma invasion and metastasis 1							84.0	86.0	86.0					21																	32595799		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32595799G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1918C>T	21.37:g.32595799G>A	ENSP00000286827:p.Leu640Phe					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.L640F	p.L640F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			9	2389	-			640					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1918C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354372	0.82243	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.64438	-0.06;-0.1	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.66497	0.944;0.91;0.932;0.88	T	0.80935	-0.1160	10	0.87932	D	0	.	17.7573	0.88453	0.0:0.0:1.0:0.0	.	640;640;481;640	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	F	640;481;640	ENSP00000286827:L640F;ENSP00000441570:L640F	ENSP00000286827:L640F	L	-	1	0	TIAM1	31517670	1.000000	0.71417	0.593000	0.28771	0.946000	0.59487	6.521000	0.73778	2.496000	0.84212	0.655000	0.94253	CTC		0.498	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		31	71	0	0	0	1	0	31	71				
NFAT5	10725	broad.mit.edu	37	16	69727105	69727105	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69727105C>T	ENST00000354436.2	+	12	3641	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	NFAT5_ENST00000567239.1_Missense_Mutation_p.S1125F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1032F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1032F|NFAT5_ENST00000349945.1_Missense_Mutation_p.S1032F|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1126F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1108					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTACAACCTCCTCTGAACAA	0.438																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3094-3096)tCc>tTc		nuclear factor of activated T-cells 5, tonicity-responsive							102.0	104.0	104.0					16																	69727105		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727105C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3323C>T	16.37:g.69727105C>T	ENSP00000346420:p.Ser1108Phe					NFAT5_ENST00000567239.1_Missense_Mutation_p.S1125F|NFAT5_ENST00000354436.2_Missense_Mutation_p.S1108F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1032F|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1126F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1032F	p.S1032F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4647	+			1108					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3095C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342504	0.61073	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.53857	0.67;0.6;0.61;0.6	5.83	5.83	0.93111	.	0.108028	0.64402	D	0.000004	T	0.71451	0.3341	L	0.56769	1.78	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.991;0.991;0.991	T	0.71751	-0.4498	10	0.72032	D	0.01	-1.7356	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1125;1108;1126	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	1126;1125;1032;1108;1032	ENSP00000396538:S1126F;ENSP00000338806:S1032F;ENSP00000346420:S1108F;ENSP00000377343:S1032F	ENSP00000338806:S1032F	S	+	2	0	NFAT5	68284606	1.000000	0.71417	0.820000	0.32676	0.996000	0.88848	5.790000	0.69038	2.756000	0.94617	0.655000	0.94253	TCC		0.438	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		48	147	0	0	0	1	0	48	147				
PHRF1	57661	broad.mit.edu	37	11	608214	608214	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:608214G>C	ENST00000264555.5	+	14	2886	c.2758G>C	c.(2758-2760)Gag>Cag	p.E920Q	PHRF1_ENST00000413872.2_Missense_Mutation_p.E918Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.E919Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E916Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	920					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACGGAGCGAGAGGAGCCCAC	0.682																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2758-2760)Gag>Cag		PHD and ring finger domains 1							20.0	24.0	23.0					11																	608214		1928	4102	6030	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608214G>C	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2758G>C	11.37:g.608214G>C	ENSP00000264555:p.Glu920Gln					PHRF1_ENST00000416188.2_Missense_Mutation_p.E919Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.E918Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E916Q	p.E920Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2886	+			920					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2758G>C		.	.	.	.	.	.	.	.	.	.	G	4.093	0.015344	0.07959	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	3.24	2.29	0.28610	.	0.543951	0.13903	N	0.354779	T	0.65281	0.2676	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.47910	0.842;0.902;0.902;0.842	B;B;B;B	0.44133	0.257;0.442;0.442;0.257	T	0.55496	-0.8132	10	0.44086	T	0.13	-9.5257	5.5969	0.17331	0.1712:0.0:0.8288:0.0	.	916;918;919;920	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	920;918;919;916	ENSP00000264555:E920Q;ENSP00000388589:E918Q;ENSP00000410626:E919Q;ENSP00000431870:E916Q	ENSP00000264555:E920Q	E	+	1	0	PHRF1	598214	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.656000	0.37355	0.304000	0.22809	0.555000	0.69702	GAG		0.682	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	54	0	0	0	1	0	7	54				
NDC80	10403	broad.mit.edu	37	18	2589202	2589202	+	Splice_Site	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:2589202G>A	ENST00000261597.4	+	9	945		c.e9-1			NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component						attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTTGTCTCCAGAGGATTTATT	0.378																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.e9-1		NDC80 kinetochore complex component							116.0	122.0	120.0					18																	2589202		2202	4299	6501	SO:0001630	splice_region_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2589202G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.764-1G>A	18.37:g.2589202G>A								NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			9	945	+								Q6PJX2	Splice_Site	SNP	ENST00000261597.4	37		CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064981	0.55432	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1655	0.93555	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDC80	2579202	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.372000	0.79612	2.514000	0.84764	0.655000	0.94253	.		0.378	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101	Intron	13	66	0	0	0	1	0	13	66				
KMT2D	8085	broad.mit.edu	37	12	49432444	49432444	+	Missense_Mutation	SNP	C	C	T	rs587778472		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:49432444C>T	ENST00000301067.7	-	34	8694	c.8695G>A	c.(8695-8697)Ggc>Agc	p.G2899S	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2899	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGAGGTGGGCCCTGACCAGGA	0.617																																						ENST00000301067.7																			0											c.(8695-8697)Ggc>Agc		lysine (K)-specific methyltransferase 2D							21.0	23.0	23.0					12																	49432444		1876	4100	5976	SO:0001583	missense	8085							g.chr12:49432444C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8695G>A	12.37:g.49432444C>T	ENSP00000301067:p.Gly2899Ser						p.G2899S	NM_003482.3	NP_003473.3					34	8694	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8695G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681536	0.29872	.	.	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	5.32	5.32	0.75619	.	0.000000	0.39083	N	0.001464	T	0.80144	0.4569	L	0.29908	0.895	0.31268	N	0.69209	D	0.62365	0.991	P	0.56042	0.79	T	0.81353	-0.0971	10	0.87932	D	0	.	12.7333	0.57210	0.0:0.9189:0.0:0.0811	.	2899	O14686	MLL2_HUMAN	S	2899	ENSP00000301067:G2899S	ENSP00000301067:G2899S	G	-	1	0	MLL2	47718711	0.183000	0.23186	0.982000	0.44146	0.851000	0.48451	1.974000	0.40559	2.878000	0.98634	0.650000	0.86243	GGC		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			14	24	0	0	0	1	0	14	24				
C10orf2	56652	broad.mit.edu	37	10	102749197	102749197	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:102749197G>A	ENST00000311916.2	+	1	1415	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000493646.1_5'Flank|C10orf2_ENST00000370228.1_Silent_p.L410L|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370242.4_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370236.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	410	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGGCGAGCTGACGGTCTTCA	0.502																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1228-1230)ctG>ctA		chromosome 10 open reading frame 2							60.0	62.0	61.0					10																	102749197		2203	4300	6503	SO:0001819	synonymous_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749197G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1230G>A	10.37:g.102749197G>A						C10orf2_ENST00000311916.2_Silent_p.L410L|C10orf2_ENST00000473656.1_Intron	p.L410L	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1415	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	410			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	ENST00000311916.2	37	c.1230G>A	CCDS7506.1																																																																																				0.502	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		13	62	0	0	0	1	0	13	62				
MCF2	4168	broad.mit.edu	37	X	138664652	138664652	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:138664652G>A	ENST00000370576.4	-	25	2965	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L	MCF2_ENST00000414978.1_Missense_Mutation_p.S979L|MCF2_ENST00000370573.4_Missense_Mutation_p.R845W|MCF2_ENST00000536274.1_Missense_Mutation_p.R806W|MCF2_ENST00000519895.1_Missense_Mutation_p.S995L|MCF2_ENST00000370578.4_Missense_Mutation_p.S1064L|MCF2_ENST00000520602.1_Missense_Mutation_p.S979L|MCF2_ENST00000338585.6_Missense_Mutation_p.S935L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	919					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGCCATCTCCGACACAGGTCT	0.448													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13520	0.0		0.0	False		,,,				2504	0.0					ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2935-2937)tCg>tTg		MCF.2 cell line derived transforming sequence							115.0	91.0	99.0					X																	138664652		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138664652G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2756C>T	X.37:g.138664652G>A	ENSP00000359608:p.Ser919Leu					MCF2_ENST00000338585.6_Missense_Mutation_p.S935L|MCF2_ENST00000414978.1_Missense_Mutation_p.S979L|MCF2_ENST00000536274.1_Missense_Mutation_p.R806W|MCF2_ENST00000370573.4_Missense_Mutation_p.R845W|MCF2_ENST00000370576.4_Missense_Mutation_p.S919L|MCF2_ENST00000370578.4_Missense_Mutation_p.S1064L|MCF2_ENST00000519895.1_Missense_Mutation_p.S995L	p.S979L			P10911	MCF2_HUMAN			28	3221	-	Acute lymphoblastic leukemia(192;0.000127)		919					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2936C>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.853|2.853	-0.237967|-0.237967	0.05944|0.05944	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000536274;ENST00000370573|ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000338585	T;T|T;T;T;T;T;T;T	0.39229|0.51325	1.09;1.21|1.27;1.16;1.27;1.27;0.71;1.31;1.2	3.34|3.34	1.5|1.5	0.22942|0.22942	.|.	.|0.512588	.|0.17609	.|N	.|0.168143	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B;D|B;B;B;B;B	0.56968|0.31054	0.001;0.001;0.978|0.102;0.002;0.102;0.306;0.102	B;B;B|B;B;B;B;B	0.36959|0.19666	0.0;0.001;0.237|0.008;0.001;0.008;0.026;0.011	T|T	0.09487|0.09487	-1.0672|-1.0672	9|10	0.72032|0.37606	D|T	0.01|0.19	.|.	3.9699|3.9699	0.09449|0.09449	0.1435:0.2434:0.6131:0.0|0.1435:0.2434:0.6131:0.0	.|.	990;806;845|995;919;1064;935;919	B7Z3Z2;F5H091;P10911-2|E9PH77;B2R9S6;Q5JYJ7;P10911-4;P10911	.;.;.|.;.;.;.;MCF2_HUMAN	W|L	806;845|979;919;1064;979;522;995;935	ENSP00000438155:R806W;ENSP00000359605:R845W|ENSP00000427745:S979L;ENSP00000359608:S919L;ENSP00000359610:S1064L;ENSP00000397055:S979L;ENSP00000405848:S522L;ENSP00000430276:S995L;ENSP00000342204:S935L	ENSP00000359605:R845W|ENSP00000342204:S935L	R|S	-|-	1|2	2|0	MCF2|MCF2	138492318|138492318	0.012000|0.012000	0.17670|0.17670	0.002000|0.002000	0.10522|0.10522	0.009000|0.009000	0.06853|0.06853	0.383000|0.383000	0.20651|0.20651	0.264000|0.264000	0.21851|0.21851	0.600000|0.600000	0.82982|0.82982	CGG|TCG		0.448	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		3	37	0	0	0	1	0	3	37				
VAV3	10451	broad.mit.edu	37	1	108315464	108315464	+	Splice_Site	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:108315464C>G	ENST00000370056.4	-	5	722	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	VAV3_ENST00000371846.4_Splice_Site_p.E85Q|VAV3_ENST00000527011.1_Splice_Site_p.E150Q|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	150					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACAAGGGTTTCACTACAACAA	0.368																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.e5-1		vav 3 guanine nucleotide exchange factor							141.0	132.0	135.0					1																	108315464		2203	4300	6503	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108315464C>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.447-1G>C	1.37:g.108315464C>G						VAV3_ENST00000527011.1_Splice_Site_p.E150_splice|VAV3_ENST00000371846.4_Splice_Site_p.E85_splice|VAV3_ENST00000343258.4_5'UTR	p.E150_splice	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	5	722	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	150					B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37	c.446_splice	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.32|17.32	3.360003|3.360003	0.61403|0.61403	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.49139|.	0.79;0.79;0.79|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Calponin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73110|0.73110	0.3545|0.3545	M|M	0.74881|0.74881	2.28|2.28	0.50313|0.50313	D|D	0.999867|0.999867	B;D;D|.	0.65815|.	0.029;0.995;0.993|.	B;P;P|.	0.58928|.	0.017;0.848;0.776|.	T|T	0.70400|0.70400	-0.4882|-0.4882	10|5	0.38643|.	T|.	0.18|.	.|.	19.4308|19.4308	0.94765|0.94765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150;150;150|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	Q|I	150;150;85|144	ENSP00000359073:E150Q;ENSP00000432540:E150Q;ENSP00000360912:E85Q|.	ENSP00000359073:E150Q|.	E|M	-|-	1|3	0|0	VAV3|VAV3	108116987|108116987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.159000|0.159000	0.22180|0.22180	6.538000|6.538000	0.73852|0.73852	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.368	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Missense_Mutation	13	74	0	0	0	1	0	13	74				
ZNF236	7776	broad.mit.edu	37	18	74637271	74637271	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:74637271G>A	ENST00000253159.8	+	22	3980	c.3782G>A	c.(3781-3783)cGt>cAt	p.R1261H	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1263H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1261					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTGCGTTTCCGTACCTCGGGT	0.537																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3781-3783)cGt>cAt		zinc finger protein 236							54.0	57.0	56.0					18																	74637271		2023	4173	6196	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74637271G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3782G>A	18.37:g.74637271G>A	ENSP00000253159:p.Arg1261His					ZNF236_ENST00000320610.9_Missense_Mutation_p.R1263H	p.R1261H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	22	3980	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1261					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3782G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866729	0.91511	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T;T	0.19938	2.24;2.24;2.11	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37210	0.0995	L	0.31420	0.93	0.40348	D	0.979107	D	0.89917	1.0	D	0.77004	0.989	T	0.25572	-1.0128	10	0.72032	D	0.01	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	1261	Q9UL36	ZN236_HUMAN	H	1261	ENSP00000253159:R1261H;ENSP00000444524:R1261H;ENSP00000322361:R1261H	ENSP00000253159:R1261H	R	+	2	0	ZNF236	72766259	1.000000	0.71417	0.136000	0.22124	0.563000	0.35712	9.451000	0.97610	2.450000	0.82876	0.650000	0.86243	CGT		0.537	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			10	56	0	0	0	1	0	10	56				
C3orf36	80111	broad.mit.edu	37	3	133647532	133647532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:133647532G>C	ENST00000408895.2	-	1	1124	c.116C>G	c.(115-117)tCa>tGa	p.S39*		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	39										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TCCAGGCCCTGAGGGGGCAGA	0.612																																						ENST00000408895.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(115-117)tCa>tGa		chromosome 3 open reading frame 36							44.0	46.0	45.0					3																	133647532		2203	4300	6503	SO:0001587	stop_gained	80111							g.chr3:133647532G>C	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.116C>G	3.37:g.133647532G>C	ENSP00000386219:p.Ser39*						p.S39*	NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN			1	1124	-			39					Q3SXR3|Q9H6K8	Nonsense_Mutation	SNP	ENST00000408895.2	37	c.116C>G	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	G	41	8.618546	0.98888	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.11	0.155	0.14906	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.1105	0.10057	0.4165:0.0:0.5835:0.0	.	.	.	.	X	39	.	ENSP00000386219:S39X	S	-	2	0	C3orf36	135130222	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.283000	0.08433	0.025000	0.15241	0.313000	0.20887	TCA		0.612	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		13	34	0	0	0	1	0	13	34				
ADNP	23394	broad.mit.edu	37	20	49509600	49509600	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:49509600C>G	ENST00000396029.3	-	5	2218	c.1651G>C	c.(1651-1653)Gat>Cat	p.D551H	ADNP_ENST00000349014.3_Missense_Mutation_p.D551H|ADNP_ENST00000396032.3_Missense_Mutation_p.D551H|ADNP_ENST00000371602.4_Missense_Mutation_p.D551H	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	551					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AATGTCAAATCAAAACTCAAA	0.448																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(1651-1653)Gat>Cat		activity-dependent neuroprotector homeobox							133.0	124.0	127.0					20																	49509600		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509600C>G	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1651G>C	20.37:g.49509600C>G	ENSP00000379346:p.Asp551His					ADNP_ENST00000349014.3_Missense_Mutation_p.D551H|ADNP_ENST00000371602.4_Missense_Mutation_p.D551H|ADNP_ENST00000396032.3_Missense_Mutation_p.D551H	p.D551H	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	2218	-			551					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1651G>C	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408021	0.62399	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	L	0.39898	1.24	0.80722	D	1	D	0.61080	0.989	D	0.64237	0.923	T	0.74012	-0.3801	9	0.72032	D	0.01	-17.1016	19.9474	0.97186	0.0:1.0:0.0:0.0	.	551	Q9H2P0	ADNP_HUMAN	H	551	.	ENSP00000342905:D551H	D	-	1	0	ADNP	48943007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.473000	0.81007	2.710000	0.92621	0.650000	0.86243	GAT		0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		25	127	0	0	0	1	0	25	127				
DCC	1630	broad.mit.edu	37	18	50976938	50976938	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:50976938G>T	ENST00000442544.2	+	23	3914	c.3298G>T	c.(3298-3300)Gtg>Ttg	p.V1100L	DCC_ENST00000581580.1_Missense_Mutation_p.V735L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1100					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACCTGCTTGTGATCATTGT	0.527																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3298-3300)Gtg>Ttg		deleted in colorectal carcinoma							135.0	109.0	118.0					18																	50976938		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50976938G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3298G>T	18.37:g.50976938G>T	ENSP00000389140:p.Val1100Leu					DCC_ENST00000581580.1_Missense_Mutation_p.V735L	p.V1100L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3914	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1100						Missense_Mutation	SNP	ENST00000442544.2	37	c.3298G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192426	0.58017	.	.	ENSG00000187323	ENST00000442544	T	0.46063	0.88	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	T	0.32882	0.0844	L	0.34521	1.04	0.54753	D	0.999981	B	0.23650	0.089	B	0.20384	0.029	T	0.13926	-1.0491	10	0.08381	T	0.77	-7.6543	18.5478	0.91053	0.0:0.0:1.0:0.0	.	1100	P43146	DCC_HUMAN	L	1100	ENSP00000389140:V1100L	ENSP00000389140:V1100L	V	+	1	0	DCC	49230936	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.175000	0.71949	2.684000	0.91462	0.650000	0.86243	GTG		0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	63	1	0	0.000602214	1	0.000602214	5	63				
TACR2	6865	broad.mit.edu	37	10	71168822	71168822	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:71168822G>A	ENST00000373306.4	-	3	1140	c.597C>T	c.(595-597)ctC>ctT	p.L199L	TACR2_ENST00000373307.1_5'UTR	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	199					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.L199L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGATCACCACGAGGTGGTACC	0.687																																						ENST00000373306.4																			1	Substitution - coding silent(1)	p.L199L(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(595-597)ctC>ctT		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						39.0	36.0	37.0					10																	71168822		2203	4299	6502	SO:0001819	synonymous_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71168822G>A		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.597C>T	10.37:g.71168822G>A						TACR2_ENST00000373307.1_5'UTR	p.L199L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			3	1140	-			199					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	c.597C>T	CCDS7293.1																																																																																				0.687	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			4	15	0	0	0	1	0	4	15				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	64	0	0	0	1	0	4	64				
SNORD3B-1	26851	broad.mit.edu	37	17	18967371	18967371	+	lincRNA	SNP	G	G	C	rs200101883		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:18967371G>C	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		tctcttcctcggggttttcgg	0.498																																						ENST00000364880.1																			0																				10.0	21.0	19.0					17																	18967371		395	1914	2309			780852							g.chr17:18967371G>C	AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967371G>C														0	78	-									RNA	SNP	ENST00000363359.1	37																																																																																						0.498	SNORD3B-1-201	KNOWN	basic	snoRNA	lincRNA		NR_003271		9	25	0	0	0	1	0	9	25				
MOV10L1	54456	broad.mit.edu	37	22	50553671	50553671	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:50553671G>A	ENST00000262794.5	+	8	1338	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G419R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G419R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G399R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	419					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.G419*(1)|p.G399*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATCTGTGACGGAAAGTAAGG	0.498																																						ENST00000262794.5																			2	Substitution - Nonsense(2)	p.G419*(1)|p.G399*(1)	lung(2)	breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1255-1257)Gga>Aga		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							93.0	104.0	100.0					22																	50553671		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50553671G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1255G>A	22.37:g.50553671G>A	ENSP00000262794:p.Gly419Arg					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G419R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G419R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G399R	p.G419R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	8	1338	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	419					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1255G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190257	0.38707	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85484	-1.8;-1.8;-1.38;-1.99	5.53	5.53	0.82687	.	0.145242	0.64402	D	0.000009	T	0.72309	0.3444	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.49358	0.923;0.727;0.607;0.607	B;B;B;B	0.35550	0.205;0.156;0.075;0.075	T	0.76822	-0.2817	10	0.44086	T	0.13	-20.1123	16.7549	0.85497	0.0:0.0:1.0:0.0	.	180;399;419;419	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	419;419;419;399	ENSP00000438978:G419R;ENSP00000262794:G419R;ENSP00000379199:G419R;ENSP00000438542:G399R	ENSP00000262794:G419R	G	+	1	0	MOV10L1	48895798	0.993000	0.37304	0.807000	0.32361	0.005000	0.04900	5.285000	0.65633	2.763000	0.94921	0.563000	0.77884	GGA		0.498	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		27	130	0	0	0	1	0	27	130				
GDA	9615	broad.mit.edu	37	9	74828882	74828882	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:74828882G>A	ENST00000358399.3	+	5	646	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GDA_ENST00000238018.4_Missense_Mutation_p.E185K|GDA_ENST00000376989.3_Missense_Mutation_p.E160K|GDA_ENST00000545168.1_Missense_Mutation_p.E111K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.E143K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	185					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGACCACTGAGGAATCGAT	0.403																																						ENST00000358399.3																			0				central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(553-555)Gag>Aag		guanine deaminase							127.0	121.0	123.0					9																	74828882		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74828882G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.553G>A	9.37:g.74828882G>A	ENSP00000351170:p.Glu185Lys					GDA_ENST00000376986.1_Missense_Mutation_p.E143K|GDA_ENST00000545168.1_Missense_Mutation_p.E111K|GDA_ENST00000238018.4_Missense_Mutation_p.E185K|GDA_ENST00000376989.3_Missense_Mutation_p.E160K|GDA_ENST00000477618.1_3'UTR	p.E185K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	5	646	+		Myeloproliferative disorder(762;0.0122)	185					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.553G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323086	0.60634	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	.	.	.	5.64	4.74	0.60224	Amidohydrolase 1 (1);	0.393945	0.30320	N	0.009888	T	0.55289	0.1911	L	0.47078	1.49	0.43798	D	0.996344	B;P;B	0.37038	0.255;0.579;0.216	B;B;B	0.41917	0.213;0.269;0.37	T	0.57382	-0.7821	9	0.48119	T	0.1	-21.3285	13.6524	0.62318	0.0751:0.0:0.9249:0.0	.	143;185;185	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	111;185;160;143;185	.	ENSP00000238018:E185K	E	+	1	0	GDA	74018702	0.994000	0.37717	0.997000	0.53966	0.629000	0.37895	2.536000	0.45693	2.662000	0.90505	0.591000	0.81541	GAG		0.403	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			10	41	0	0	0	1	0	10	41				
HABP4	22927	broad.mit.edu	37	9	99252296	99252296	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:99252296G>A	ENST00000375249.4	+	8	1293	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Silent_p.P301P	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CAGATGACCCGGAAGATTTCC	0.522																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1216-1218)ccG>ccA		hyaluronan binding protein 4							91.0	89.0	90.0					9																	99252296		2203	4300	6503	SO:0001819	synonymous_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99252296G>A	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1218G>A	9.37:g.99252296G>A						HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Silent_p.P301P	p.P406P	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			8	1293	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	406						Silent	SNP	ENST00000375249.4	37	c.1218G>A	CCDS6719.1																																																																																				0.522	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		5	52	0	0	0	1	0	5	52				
FAT1	2195	broad.mit.edu	37	4	187530372	187530372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:187530372C>A	ENST00000441802.2	-	16	10380	c.10171G>T	c.(10171-10173)Gaa>Taa	p.E3391*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3391	Cadherin 31. {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						ACTTTGACTTCTCCCCTGACG	0.443										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.(10171-10173)Gaa>Taa		FAT atypical cadherin 1							135.0	129.0	131.0					4																	187530372		1961	4144	6105	SO:0001587	stop_gained	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.chr4:187530372C>A	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.10171G>T	4.37:g.187530372C>A	ENSP00000406229:p.Glu3391*	HNSCC(5;0.00058)					p.E3391*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10380	-			3391			Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10171G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	51	17.988136	0.99897	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.22	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.2227	0.73327	0.0:0.859:0.141:0.0	.	.	.	.	X	3391;3393	.	ENSP00000260147:E3393X	E	-	1	0	FAT1	187767366	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	3.276000	0.51646	2.441000	0.82636	0.563000	0.77884	GAA		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		28	24	1	0	1.17739e-12	1	1.26354e-12	28	24				
HIST1H2BD	3017	broad.mit.edu	37	6	26158595	26158595	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:26158595C>T	ENST00000289316.2	+	1	222	c.198C>T	c.(196-198)ttC>ttT	p.F66F	HIST1H2BD_ENST00000377777.4_Silent_p.F66F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	66					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGAATTCCTTCGTCAACGACA	0.577																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(196-198)ttC>ttT		histone cluster 1, H2bd							180.0	169.0	173.0					6																	26158595		2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158595C>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.198C>T	6.37:g.26158595C>T						HIST1H2BD_ENST00000377777.4_Silent_p.F66F	p.F66F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	222	+			66						Silent	SNP	ENST00000289316.2	37	c.198C>T	CCDS4587.1																																																																																				0.577	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		38	175	0	0	0	1	0	38	175				
SOWAHB	345079	broad.mit.edu	37	4	77818756	77818756	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:77818756C>G	ENST00000334306.2	-	1	246	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	83																	AGCCCCTCCTCCCCCAAAAGG	0.736																																						ENST00000334306.2																			0											c.(247-249)Gag>Cag		sosondowah ankyrin repeat domain family member B							17.0	19.0	18.0					4																	77818756		2196	4297	6493	SO:0001583	missense	345079							g.chr4:77818756C>G		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.247G>C	4.37:g.77818756C>G	ENSP00000334879:p.Glu83Gln						p.E83Q	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	246	-			83					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.247G>C	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571674	0.45798	.	.	ENSG00000186212	ENST00000334306	T	0.05786	3.39	4.19	2.32	0.28847	.	2.450510	0.02239	N	0.065561	T	0.10165	0.0249	L	0.41492	1.28	0.26303	N	0.977942	B	0.26935	0.164	B	0.28232	0.087	T	0.45702	-0.9243	10	0.54805	T	0.06	-11.6149	13.678	0.62465	0.0:0.7061:0.2939:0.0	.	83	A6NEL2	ANR56_HUMAN	Q	83	ENSP00000334879:E83Q	ENSP00000334879:E83Q	E	-	1	0	ANKRD56	78037780	0.999000	0.42202	0.999000	0.59377	0.496000	0.33645	2.399000	0.44495	0.960000	0.38005	0.467000	0.42956	GAG		0.736	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		8	27	0	0	0	1	0	8	27				
TBK1	29110	broad.mit.edu	37	12	64878099	64878099	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:64878099G>A	ENST00000331710.5	+	9	1348	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	337	Ubiquitin-like.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATATTTCATGAACTGGTATA	0.353																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1009-1011)Gaa>Aaa		TANK-binding kinase 1							42.0	42.0	42.0					12																	64878099		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64878099G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1009G>A	12.37:g.64878099G>A	ENSP00000329967:p.Glu337Lys						p.E337K	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	9	1348	+			337			Ubiquitin-like.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1009G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036914	0.93630	.	.	ENSG00000183735	ENST00000331710	T	0.68765	-0.35	5.0	5.0	0.66597	.	0.047340	0.85682	D	0.000000	T	0.66297	0.2775	M	0.61703	1.905	0.80722	D	1	B	0.23316	0.083	B	0.24974	0.057	T	0.61898	-0.6968	9	.	.	.	-14.4936	19.186	0.93644	0.0:0.0:1.0:0.0	.	337	Q9UHD2	TBK1_HUMAN	K	337	ENSP00000329967:E337K	.	E	+	1	0	TBK1	63164366	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.108000	0.89559	2.706000	0.92434	0.563000	0.77884	GAA		0.353	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		4	16	0	0	0	1	0	4	16				
H6PD	9563	broad.mit.edu	37	1	9305538	9305538	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:9305538C>T	ENST00000377403.2	+	2	847	c.545C>T	c.(544-546)tCa>tTa	p.S182L	H6PD_ENST00000602477.1_Missense_Mutation_p.S193L	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	182	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GACCACTTCTCAGCCCAGCAG	0.582																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(544-546)tCa>tTa		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						46.0	51.0	50.0					1																	9305538		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305538C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.545C>T	1.37:g.9305538C>T	ENSP00000366620:p.Ser182Leu					H6PD_ENST00000602477.1_Missense_Mutation_p.S193L	p.S182L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	847	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	182			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.545C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615147	0.87359	.	.	ENSG00000049239	ENST00000377403	T	0.73469	-0.75	5.31	5.31	0.75309	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.128399	0.53938	D	0.000057	D	0.91794	0.7404	H	0.98199	4.17	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	D	0.94590	0.7787	10	0.87932	D	0	-9.8954	18.3309	0.90268	0.0:1.0:0.0:0.0	.	182	O95479	G6PE_HUMAN	L	182	ENSP00000366620:S182L	ENSP00000366620:S182L	S	+	2	0	H6PD	9228125	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	6.070000	0.71220	2.641000	0.89580	0.591000	0.81541	TCA		0.582	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		14	88	0	0	0	1	0	14	88				
PCDH15	65217	broad.mit.edu	37	10	55591146	55591146	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:55591146C>A	ENST00000320301.6	-	30	4525	c.4131G>T	c.(4129-4131)ttG>ttT	p.L1377F	PCDH15_ENST00000437009.1_Missense_Mutation_p.L1306F|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1340F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.L1384F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1384F|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L1382F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.L988F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1377F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1355F	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1377					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGAGCCAACAAGGCCCCTT	0.488										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4150-4152)ttG>ttT		protocadherin-related 15							302.0	256.0	271.0					10																	55591146		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591146C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4131G>T	10.37:g.55591146C>A	ENSP00000322604:p.Leu1377Phe	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.L1382F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L988F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1384F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1355F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1340F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1306F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1377F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1377F|PCDH15_ENST00000395440.1_Intron	p.L1384F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4546	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1377					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4152G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388128	0.61956	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.68181	0.01;0.1;-0.05;-0.03;-0.07;-0.15;-0.25;-0.12;-0.27;-0.19;-0.31	5.65	2.81	0.32909	.	.	.	.	.	T	0.71126	0.3303	L	0.36672	1.1	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.999;0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999	T	0.69636	-0.5092	9	0.87932	D	0	.	9.0045	0.36104	0.0:0.7123:0.0:0.2877	.	1355;1377;1377;1382;1306;1340;1377;1377;1384;1384;1377;1382;1377	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	F	1384;1382;1377;1377;988;1384;1340;1377;1355;1377;1377;1382;1306	ENSP00000363076:L1384F;ENSP00000410304:L1382F;ENSP00000378826:L1377F;ENSP00000386693:L988F;ENSP00000378832:L1384F;ENSP00000378820:L1340F;ENSP00000354950:L1377F;ENSP00000378821:L1355F;ENSP00000322604:L1377F;ENSP00000378818:L1377F;ENSP00000412628:L1306F	ENSP00000322604:L1377F	L	-	3	2	PCDH15	55261152	0.098000	0.21812	0.654000	0.29608	0.972000	0.66771	-0.495000	0.06443	0.327000	0.23409	0.591000	0.81541	TTG		0.488	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	78	1	0	1.3612e-06	1	1.41257e-06	14	78				
HLA-A	3105	broad.mit.edu	37	6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(19-21)Cga>Tga		major histocompatibility complex, class I, A							35.0	37.0	37.0					6																	29910349		2201	4296	6497	SO:0001587	stop_gained	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910349C>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.19C>T	6.37:g.29910349C>T	ENSP00000379873:p.Arg7*	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*	p.R7*			P30443	1A01_HUMAN			3	360	+			7					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.19C>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	34	5.323259	0.95708	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.72	-6.36	0.01969	.	6.449800	0.01184	U	0.007157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6254	0.12476	0.2481:0.1715:0.4911:0.0893	.	.	.	.	X	7	.	ENSP00000348012:R7X	R	+	1	2	HLA-A	30018328	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.254000	0.01183	-1.159000	0.02807	-0.531000	0.04308	CGA		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		10	73	0	0	0	1	0	10	73				
KYNU	8942	broad.mit.edu	37	2	143676204	143676204	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:143676204G>C	ENST00000410015.2	+	3	286	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	KYNU_ENST00000264170.4_Missense_Mutation_p.E66Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E66Q|KYNU_ENST00000409512.1_Missense_Mutation_p.E66Q					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GAATAAAGATGAAAATGCCAT	0.294																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(196-198)Gaa>Caa		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						34.0	34.0	34.0					2																	143676204		2198	4285	6483	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143676204G>C	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.196G>C	2.37:g.143676204G>C	ENSP00000387296:p.Glu66Gln					KYNU_ENST00000410015.2_Missense_Mutation_p.E66Q|KYNU_ENST00000409512.1_Missense_Mutation_p.E66Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E66Q	p.E66Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	3	454	+			66						Missense_Mutation	SNP	ENST00000410015.2	37	c.196G>C		.	.	.	.	.	.	.	.	.	.	G	15.43	2.830710	0.50845	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.350989	0.32068	N	0.006640	T	0.43344	0.1243	L	0.29908	0.895	0.36864	D	0.888567	B;B	0.12013	0.002;0.005	B;B	0.06405	0.002;0.001	T	0.37934	-0.9684	10	0.28530	T	0.3	.	17.7814	0.88524	0.0:0.0:1.0:0.0	.	66;66	Q16719;Q9BVW3	KYNU_HUMAN;.	Q	66	ENSP00000264170:E66Q;ENSP00000364928:E66Q;ENSP00000386731:E66Q;ENSP00000387296:E66Q	ENSP00000264170:E66Q	E	+	1	0	KYNU	143392674	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.197000	0.58413	2.631000	0.89168	0.650000	0.86243	GAA		0.294	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		7	20	0	0	0	1	0	7	20				
TMEM74B	55321	broad.mit.edu	37	20	1161732	1161732	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:1161732G>A	ENST00000381894.3	-	2	1202	c.531C>T	c.(529-531)atC>atT	p.I177I	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	177						integral component of membrane (GO:0016021)											GGCCTGCGATGATGCACCTGT	0.647																																						ENST00000381894.3																			0											c.(529-531)atC>atT		transmembrane protein 74B							57.0	38.0	44.0					20																	1161732		2203	4300	6503	SO:0001819	synonymous_variant	55321					integral to membrane	protein binding	g.chr20:1161732G>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.531C>T	20.37:g.1161732G>A							p.I177I	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1202	-			177					D3DVW5	Silent	SNP	ENST00000381894.3	37	c.531C>T	CCDS13011.1																																																																																				0.647	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		15	43	0	0	0	1	0	15	43				
MUC4	4585	broad.mit.edu	37	3	195481096	195481096	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:195481096G>A	ENST00000346145.4	-	18	2647	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	MUC4_ENST00000349607.4_Missense_Mutation_p.R819W|MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W|MUC4_ENST00000463781.3_Missense_Mutation_p.R5106W	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1863	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACAGTGCCGCCCATCCCCA	0.637																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15316-15318)Cgg>Tgg		mucin 4, cell surface associated							64.0	69.0	68.0					3																	195481096		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195481096G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2608C>T	3.37:g.195481096G>A	ENSP00000304207:p.Arg870Trp					MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W|MUC4_ENST00000349607.4_Missense_Mutation_p.R819W|MUC4_ENST00000346145.4_Missense_Mutation_p.R870W	p.R5106W	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	19	15775	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1863					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15316C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	9.925	1.213109	0.22289	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.39229	1.09;1.45;1.38;1.41	4.69	1.03	0.20045	.	0.281040	0.23125	N	0.051650	T	0.62183	0.2407	M	0.84219	2.685	0.20403	N	0.999907	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.99;0.993;0.993;0.989;0.989;0.985	T	0.54430	-0.8295	10	0.40728	T	0.16	-5.2448	11.4798	0.50318	0.0:0.0:0.4757:0.5243	.	4978;819;870;5106;5054;1811	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	W	819;870;5106;5054;1606	ENSP00000338109:R819W;ENSP00000304207:R870W;ENSP00000417498:R5106W;ENSP00000420243:R5054W	ENSP00000304207:R870W	R	-	1	2	MUC4	196966767	0.001000	0.12720	0.857000	0.33713	0.077000	0.17291	0.588000	0.23924	0.448000	0.26722	0.443000	0.29094	CGG		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		23	76	0	0	0	1	0	23	76				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578442		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578442T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	51	0	0	0	1	0	13	51				
OBSL1	23363	broad.mit.edu	37	2	220432561	220432561	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:220432561G>C	ENST00000404537.1	-	3	1469	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	OBSL1_ENST00000373876.1_Missense_Mutation_p.I471M|OBSL1_ENST00000373873.4_Missense_Mutation_p.I471M|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000603926.1_Missense_Mutation_p.I471M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I58M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I471M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	471					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCTCTGGCAGATGACCGGCA	0.627																																						ENST00000404537.1																			0											c.(1411-1413)atC>atG		obscurin-like 1							45.0	50.0	48.0					2																	220432561		2155	4262	6417	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432561G>C	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1413C>G	2.37:g.220432561G>C	ENSP00000385636:p.Ile471Met					OBSL1_ENST00000373873.4_Missense_Mutation_p.I471M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I471M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I471M|OBSL1_ENST00000603926.1_Missense_Mutation_p.I471M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I58M	p.I471M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	3	1469	-		Renal(207;0.0376)	471					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1413C>G	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	2.231	-0.376093	0.05034	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	3.98	2.15	0.27550	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63367	0.2505	N	0.05124	-0.11	0.20764	N	0.999856	B;B;B	0.26120	0.142;0.0;0.008	B;B;B	0.32022	0.139;0.001;0.012	T	0.53816	-0.8385	9	0.32370	T	0.25	.	9.8574	0.41094	0.1709:0.0:0.8291:0.0	.	471;58;471	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	M	471;471;471;471;58	ENSP00000265318:I471M;ENSP00000385636:I471M;ENSP00000362983:I471M;ENSP00000362980:I471M;ENSP00000289656:I58M	ENSP00000265318:I471M	I	-	3	3	OBSL1	220140805	0.991000	0.36638	0.890000	0.34922	0.309000	0.27889	0.205000	0.17356	0.458000	0.26988	0.484000	0.47621	ATC		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			4	42	0	0	0	1	0	4	42				
EPHB1	2047	broad.mit.edu	37	3	134960105	134960105	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:134960105G>A	ENST00000398015.3	+	13	2832	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	EPHB1_ENST00000493838.1_Missense_Mutation_p.G382E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGTCATTTGGAGAGAGACCC	0.522																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2461-2463)gGa>gAa		EPH receptor B1							283.0	288.0	286.0					3																	134960105		2112	4264	6376	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134960105G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2462G>A	3.37:g.134960105G>A	ENSP00000381097:p.Gly821Glu					EPHB1_ENST00000493838.1_Missense_Mutation_p.G382E	p.G821E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			13	2832	+			821			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2462G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113362	0.94339	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.72282	-0.64;-0.64	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060752	0.64402	D	0.000003	D	0.87406	0.6169	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89891	0.4037	10	0.87932	D	0	.	18.5321	0.90996	0.0:0.0:1.0:0.0	.	821	P54762	EPHB1_HUMAN	E	821;382	ENSP00000381097:G821E;ENSP00000419574:G382E	ENSP00000381097:G821E	G	+	2	0	EPHB1	136442795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.608000	0.88229	0.655000	0.94253	GGA		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		49	232	0	0	0	1	0	49	232				
FGD6	55785	broad.mit.edu	37	12	95488418	95488418	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:95488418C>G	ENST00000343958.4	-	15	3773	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	FGD6_ENST00000546711.1_Missense_Mutation_p.E1184Q|FGD6_ENST00000549499.1_Missense_Mutation_p.E1184Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1184					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGCATACTCTTCTATTGCC	0.388																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3550-3552)Gag>Cag		FYVE, RhoGEF and PH domain containing 6							167.0	161.0	163.0					12																	95488418		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95488418C>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3550G>C	12.37:g.95488418C>G	ENSP00000344446:p.Glu1184Gln					FGD6_ENST00000549499.1_Missense_Mutation_p.E1184Q|FGD6_ENST00000546711.1_Missense_Mutation_p.E1184Q	p.E1184Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			15	3773	-			1184					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3550G>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013357	0.75161	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521;ENST00000549499	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	6.04	6.04	0.98038	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.133251	0.34268	N	0.004110	T	0.68586	0.3017	N	0.19112	0.55	0.51767	D	0.999937	D;D	0.63880	0.993;0.993	D;P	0.65573	0.936;0.827	T	0.69113	-0.5231	10	0.49607	T	0.09	-6.2246	20.5792	0.99380	0.0:1.0:0.0:0.0	.	1184;1184	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	Q	1184;1184;180;1184	ENSP00000344446:E1184Q;ENSP00000450342:E1184Q;ENSP00000450240:E180Q;ENSP00000449005:E1184Q	ENSP00000344446:E1184Q	E	-	1	0	FGD6	94012549	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.226000	0.78060	2.873000	0.98535	0.561000	0.74099	GAG		0.388	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		20	86	0	0	0	1	0	20	86				
KANK2	25959	broad.mit.edu	37	19	11280795	11280795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:11280795C>A	ENST00000586659.1	-	11	2655	c.2341G>T	c.(2341-2343)Gag>Tag	p.E781*	KANK2_ENST00000589894.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000432929.2_Nonsense_Mutation_p.E789*|KANK2_ENST00000355150.5_Nonsense_Mutation_p.E781*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.E789*			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	781	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTGCTCACAGGCGCAC	0.647																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2365-2367)Gag>Tag		KN motif and ankyrin repeat domains 2							77.0	72.0	74.0					19																	11280795		2203	4300	6503	SO:0001587	stop_gained	25959							g.chr19:11280795C>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2341G>T	19.37:g.11280795C>A	ENSP00000465650:p.Glu781*					KANK2_ENST00000586659.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589894.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000355150.5_Nonsense_Mutation_p.E781*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.E789*	p.E789*	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			11	2725	-			781					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Nonsense_Mutation	SNP	ENST00000586659.1	37	c.2365G>T	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	41	8.559339	0.98863	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-28.3171	17.6954	0.88281	0.0:1.0:0.0:0.0	.	.	.	.	X	789;781	.	ENSP00000347276:E781X	E	-	1	0	KANK2	11141795	0.987000	0.35691	0.996000	0.52242	0.845000	0.48019	3.301000	0.51842	2.478000	0.83669	0.555000	0.69702	GAG		0.647	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		18	88	1	0	1.02788e-11	1	1.09774e-11	18	88				
FANCI	55215	broad.mit.edu	37	15	89804048	89804048	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:89804048G>C	ENST00000310775.7	+	4	348	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	FANCI_ENST00000567996.1_Missense_Mutation_p.E88Q|FANCI_ENST00000300027.8_Missense_Mutation_p.E88Q|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	88					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AATAGCGTCTGAGATCATAGG	0.428								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(262-264)Gag>Cag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							121.0	116.0	118.0					15																	89804048		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89804048G>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.262G>C	15.37:g.89804048G>C	ENSP00000310842:p.Glu88Gln					FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.E88Q|FANCI_ENST00000567996.1_Missense_Mutation_p.E88Q	p.E88Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			4	348	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		88					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.262G>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749766	0.89753	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.52754	0.65;0.65;0.65	5.43	5.43	0.79202	.	0.144145	0.44285	D	0.000470	T	0.65637	0.2710	M	0.65975	2.015	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.63113	0.911;0.862	T	0.61501	-0.7050	10	0.30854	T	0.27	-12.7411	19.2292	0.93831	0.0:0.0:1.0:0.0	.	88;88	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	Q	88	ENSP00000300027:E88Q;ENSP00000310842:E88Q;ENSP00000413249:E88Q	ENSP00000300027:E88Q	E	+	1	0	FANCI	87605052	1.000000	0.71417	0.974000	0.42286	0.936000	0.57629	8.697000	0.91307	2.534000	0.85438	0.655000	0.94253	GAG		0.428	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		50	109	0	0	0	1	0	50	109				
TBL1Y	90665	broad.mit.edu	37	Y	6955318	6955318	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrY:6955318G>C	ENST00000383032.1	+	17	1938	c.1291G>C	c.(1291-1293)Gat>Cat	p.D431H	TBL1Y_ENST00000355162.2_Missense_Mutation_p.D431H|TBL1Y_ENST00000346432.3_Missense_Mutation_p.D431H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGCTTCATTTGATTCTACAGT	0.468																																						ENST00000383032.1																			0				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(1291-1293)Gat>Cat		transducin (beta)-like 1, Y-linked							47.0	47.0	47.0					Y																	6955318		584	1924	2508	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6955318G>C	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.1291G>C	Y.37:g.6955318G>C	ENSP00000372499:p.Asp431His					TBL1Y_ENST00000346432.3_Missense_Mutation_p.D431H|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D431H	p.D431H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN			17	1938	+			431					A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.1291G>C	CCDS14779.1																																																																																				0.468	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		13	11	0	0	0	1	0	13	11				
CYP17A1	1586	broad.mit.edu	37	10	104592419	104592419	+	Missense_Mutation	SNP	C	C	T	rs142037395	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:104592419C>T	ENST00000369887.3	-	6	1159	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	330			Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities). {ECO:0000269|PubMed:10720067}.		adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	TCAATCTCCTCGTAGAGCTTC	0.532																																						ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(988-990)Gag>Aag		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)	C	LYS/GLU	1,4405	4.2+/-10.8	0,1,2202	139.0	123.0	128.0		988	4.5	1.0	10	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP17A1	NM_000102.3	56	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	330/509	104592419	3,13003	2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104592419C>T	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.988G>A	10.37:g.104592419C>T	ENSP00000358903:p.Glu330Lys						p.E330K	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1159	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	330		Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities).			Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.988G>A	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016951	0.35606	2.27E-4	2.33E-4	ENSG00000148795	ENST00000369887	T	0.72394	-0.65	5.37	4.46	0.54185	.	0.382405	0.31268	N	0.007942	T	0.58991	0.2161	L	0.27975	0.815	0.58432	D	0.999995	B	0.22346	0.068	B	0.26864	0.074	T	0.55780	-0.8087	10	0.38643	T	0.18	.	13.1548	0.59511	0.0:0.9205:0.0:0.0795	.	330	P05093	CP17A_HUMAN	K	330	ENSP00000358903:E330K	ENSP00000358903:E330K	E	-	1	0	CYP17A1	104582409	1.000000	0.71417	0.988000	0.46212	0.291000	0.27294	3.651000	0.54431	1.375000	0.46248	0.561000	0.74099	GAG		0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		12	82	0	0	0	1	0	12	82				
AFF3	3899	broad.mit.edu	37	2	100199295	100199295	+	Missense_Mutation	SNP	C	C	T	rs202104245		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:100199295C>T	ENST00000409236.2	-	15	2870	c.2758G>A	c.(2758-2760)Gac>Aac	p.D920N	AFF3_ENST00000317233.4_Missense_Mutation_p.D920N|AFF3_ENST00000409579.1_Missense_Mutation_p.D945N|AFF3_ENST00000356421.2_Missense_Mutation_p.D945N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	920					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTGGCTGTCGGCCTTAGGC	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17799	0.0		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2758-2760)Gac>Aac		AF4/FMR2 family, member 3		C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	130.0	119.0	122.0		2833,2758	5.9	0.9	2		122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	AFF3	NM_001025108.1,NM_002285.2	23,23	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	945/1252,920/1227	100199295	3,13003	2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199295C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2758G>A	2.37:g.100199295C>T	ENSP00000387207:p.Asp920Asn					AFF3_ENST00000409236.1_Missense_Mutation_p.D920N|AFF3_ENST00000356421.2_Missense_Mutation_p.D945N|AFF3_ENST00000409579.1_Missense_Mutation_p.D945N	p.D920N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			16	2993	-			920					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2758G>A	CCDS42723.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.00	2.404680	0.42613	2.27E-4	2.33E-4	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.93	5.93	0.95920	.	0.201183	0.40908	D	0.000999	T	0.42381	0.1200	N	0.14661	0.345	0.35832	D	0.825387	B;P	0.43909	0.018;0.821	B;B	0.32149	0.01;0.141	T	0.51810	-0.8658	10	0.23891	T	0.37	.	18.5344	0.91004	0.0:1.0:0.0:0.0	.	920;945	P51826;P51826-2	AFF3_HUMAN;.	N	920;945;945;920	ENSP00000317421:D920N;ENSP00000348793:D945N;ENSP00000386834:D945N;ENSP00000387207:D920N	ENSP00000317421:D920N	D	-	1	0	AFF3	99565727	1.000000	0.71417	0.934000	0.37439	0.906000	0.53458	5.038000	0.64177	2.826000	0.97356	0.655000	0.94253	GAC		0.483	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		19	74	0	0	0	1	0	19	74				
GNL2	29889	broad.mit.edu	37	1	38033324	38033324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:38033324C>A	ENST00000373062.3	-	15	2091	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	665					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCCTGTTCCTCTTCCCTTTGT	0.393																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1993-1995)Gag>Tag		guanine nucleotide binding protein-like 2 (nucleolar)							216.0	203.0	207.0					1																	38033324		2203	4300	6503	SO:0001587	stop_gained	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38033324C>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1993G>T	1.37:g.38033324C>A	ENSP00000362153:p.Glu665*					GNL2_ENST00000462812.1_5'UTR	p.E665*	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			15	2091	-		Myeloproliferative disorder(586;0.0393)	665					Q9BWN7	Nonsense_Mutation	SNP	ENST00000373062.3	37	c.1993G>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	36	5.884364	0.97062	.	.	ENSG00000134697	ENST00000373062	.	.	.	4.88	4.88	0.63580	.	0.145914	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-28.783	15.5482	0.76126	0.0:1.0:0.0:0.0	.	.	.	.	X	665	.	ENSP00000362153:E665X	E	-	1	0	GNL2	37805911	0.993000	0.37304	1.000000	0.80357	0.363000	0.29612	2.905000	0.48727	2.425000	0.82216	0.591000	0.81541	GAG		0.393	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		22	74	1	0	1.10923e-09	1	1.17323e-09	22	74				
SPRED2	200734	broad.mit.edu	37	2	65540957	65540957	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:65540957C>T	ENST00000356388.4	-	6	1124	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.C309Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	312	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CATGTCCCTGCAGTACACGCA	0.692																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(934-936)tGc>tAc		sprouty-related, EVH1 domain containing 2							71.0	74.0	73.0					2																	65540957		2203	4299	6502	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540957C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.935G>A	2.37:g.65540957C>T	ENSP00000348753:p.Cys312Tyr					SPRED2_ENST00000443619.2_Missense_Mutation_p.C309Y	p.C312Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1124	-			312			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.935G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949719	0.92660	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91977	0.5591	10	0.87932	D	0	-26.3329	19.9598	0.97242	0.0:1.0:0.0:0.0	.	309;312	E9PEP0;Q7Z698	.;SPRE2_HUMAN	Y	312;309;327;194	ENSP00000348753:C312Y;ENSP00000393697:C309Y;ENSP00000390595:C327Y;ENSP00000407627:C194Y	ENSP00000348753:C312Y	C	-	2	0	SPRED2	65394461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	TGC		0.692	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			30	104	0	0	0	1	0	30	104				
EIF5A	1984	broad.mit.edu	37	17	7214764	7214764	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7214764G>C	ENST00000336458.8	+	4	767	c.366G>C	c.(364-366)gaG>gaC	p.E122D	EIF5A_ENST00000571955.1_Missense_Mutation_p.E122D|EIF5A_ENST00000576930.1_Missense_Mutation_p.E122D|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000573542.1_Missense_Mutation_p.E122D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E152D|EIF5A_ENST00000419711.2_Missense_Mutation_p.E122D|EIF5A_ENST00000572815.1_Missense_Mutation_p.E122D|EIF5A_ENST00000416016.2_Missense_Mutation_p.E122D	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	122					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTGGCAAGGAGATTGAGCAGA	0.557																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(364-366)gaG>gaC		eukaryotic translation initiation factor 5A							214.0	198.0	203.0					17																	7214764		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214764G>C		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.366G>C	17.37:g.7214764G>C	ENSP00000336776:p.Glu122Asp					EIF5A_ENST00000573542.1_Missense_Mutation_p.E122D|EIF5A_ENST00000571955.1_Missense_Mutation_p.E122D|EIF5A_ENST00000416016.2_Missense_Mutation_p.E122D|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E122D|EIF5A_ENST00000572815.1_Missense_Mutation_p.E122D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E152D|EIF5A_ENST00000419711.2_Missense_Mutation_p.E122D	p.E122D	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			4	767	+			122					A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.366G>C	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201653	0.38905	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.49139	0.79;0.83;0.83;0.83	4.45	3.47	0.39725	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	L	0.31664	0.95	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.11329	0.004;0.006	T	0.12889	-1.0530	10	0.44086	T	0.13	-10.8616	8.0927	0.30809	0.1893:0.0:0.8107:0.0	.	122;152	P63241;P63241-2	IF5A1_HUMAN;.	D	152;122;122;122	ENSP00000336702:E152D;ENSP00000336776:E122D;ENSP00000390677:E122D;ENSP00000396073:E122D	ENSP00000336702:E152D	E	+	3	2	EIF5A	7155488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.178000	0.31981	1.220000	0.43490	0.655000	0.94253	GAG		0.557	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		30	92	0	0	0	1	0	30	92				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-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)	p.Q269Q(15)		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						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	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.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		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.chr20:33345744C>T	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.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	49	0	0	0	1	0	5	49				
MYH9	4627	broad.mit.edu	37	22	36745252	36745252	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:36745252G>C	ENST00000216181.5	-	2	260	c.30C>G	c.(28-30)ctC>ctG	p.L10L	MYH9_ENST00000401701.1_Silent_p.L10L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	10					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TATCCACATAGAGATACTTAT	0.522			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(28-30)ctC>ctG		myosin, heavy chain 9, non-muscle							56.0	56.0	56.0					22																	36745252		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36745252G>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.30C>G	22.37:g.36745252G>C						MYH9_ENST00000401701.1_Silent_p.L10L	p.L10L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			2	260	-			10			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.30C>G	CCDS13927.1																																																																																				0.522	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	36	0	0	0	1	0	10	36				
SIDT1	54847	broad.mit.edu	37	3	113327031	113327031	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:113327031G>A	ENST00000264852.4	+	16	2295	c.1569G>A	c.(1567-1569)cgG>cgA	p.R523R	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.R523R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	523					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCCTCCATCGGAGAGCCCTGG	0.542																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1567-1569)cgG>cgA		SID1 transmembrane family, member 1							113.0	102.0	106.0					3																	113327031		2203	4300	6503	SO:0001819	synonymous_variant	54847					integral to membrane		g.chr3:113327031G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1569G>A	3.37:g.113327031G>A						SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.R523R	p.R523R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			16	2295	+			523					Q17RR4	Silent	SNP	ENST00000264852.4	37	c.1569G>A	CCDS2974.1																																																																																				0.542	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		19	83	0	0	0	1	0	19	83				
RLTPR	146206	broad.mit.edu	37	16	67680212	67680212	+	Splice_Site	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:67680212G>C	ENST00000334583.6	+	5	701	c.373G>C	c.(373-375)Ggg>Cgg	p.G125R	RLTPR_ENST00000545661.1_Splice_Site_p.G125R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	125					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCGACCCTTGGGTGAGGCCT	0.637																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.e5+1		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							37.0	42.0	41.0					16																	67680212		2042	4197	6239	SO:0001630	splice_region_variant	146206							g.chr16:67680212G>C	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.374+1G>C	16.37:g.67680212G>C						RLTPR_ENST00000545661.1_Splice_Site_p.G125_splice	p.G125_splice	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	5	701	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	125					B8X2Z3	Splice_Site	SNP	ENST00000334583.6	37	c.374_splice	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088772	0.20390	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.14022	2.59;2.54	4.87	2.77	0.32553	.	0.182769	0.47455	N	0.000224	T	0.08670	0.0215	L	0.38175	1.15	0.43122	D	0.99484	B;P	0.36599	0.289;0.56	B;B	0.33121	0.03;0.158	T	0.23332	-1.0191	10	0.12430	T	0.62	-8.4626	8.931	0.35670	0.197:0.0:0.803:0.0	.	125;125	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	R	125	ENSP00000334958:G125R;ENSP00000441481:G125R	ENSP00000334958:G125R	G	+	1	0	RLTPR	66237713	1.000000	0.71417	0.999000	0.59377	0.233000	0.25261	1.490000	0.35573	1.292000	0.44672	-0.258000	0.10820	GGG		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	Missense_Mutation	8	31	0	0	0	1	0	8	31				
ITGA4	3676	broad.mit.edu	37	2	182386960	182386960	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:182386960G>C	ENST00000397033.2	+	18	2395	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	655					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGAGTATGAAGACATTGATGT	0.328																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1963-1965)aaG>aaC		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						171.0	153.0	159.0					2																	182386960		1853	4113	5966	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182386960G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1965G>C	2.37:g.182386960G>C	ENSP00000380227:p.Lys655Asn						p.K655N	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		18	2395	+			655					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1965G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068390	0.55539	.	.	ENSG00000115232	ENST00000397033	T	0.46063	0.88	5.67	2.95	0.34219	Integrin alpha-2 (1);	0.099998	0.64402	D	0.000002	T	0.44244	0.1284	L	0.58428	1.81	0.49582	D	0.999807	P;P	0.48407	0.91;0.778	P;P	0.49332	0.607;0.607	T	0.17776	-1.0358	10	0.27082	T	0.32	.	9.7024	0.40196	0.2751:0.0:0.7249:0.0	.	477;655	Q59H74;P13612	.;ITA4_HUMAN	N	655	ENSP00000380227:K655N	ENSP00000380227:K655N	K	+	3	2	ITGA4	182095205	1.000000	0.71417	0.984000	0.44739	0.825000	0.46686	2.840000	0.48215	0.354000	0.24105	-0.237000	0.12165	AAG		0.328	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			38	47	0	0	0	1	0	38	47				
MORC2	22880	broad.mit.edu	37	22	31337485	31337485	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:31337485C>A	ENST00000397641.3	-	9	1167	c.759G>T	c.(757-759)atG>atT	p.M253I	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.M191I			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	253						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGAAGATCCTCATCCGGGGAT	0.597																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(571-573)atG>atT		MORC family CW-type zinc finger 2							67.0	55.0	59.0					22																	31337485		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31337485C>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.759G>T	22.37:g.31337485C>A	ENSP00000380763:p.Met253Ile					MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.M253I	p.M191I	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			10	1936	-			253					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.573G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.395433	0.96009	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.70164	-0.46;-0.46	5.38	5.38	0.77491	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	M	0.77103	2.36	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.83007	-0.0174	10	0.56958	D	0.05	.	19.1287	0.93396	0.0:1.0:0.0:0.0	.	253	Q9Y6X9	MORC2_HUMAN	I	253;191	ENSP00000380763:M253I;ENSP00000215862:M191I	ENSP00000215862:M191I	M	-	3	0	MORC2	29667485	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.459000	0.80802	2.507000	0.84556	0.561000	0.74099	ATG		0.597	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		16	35	1	0	6.31663e-08	1	6.64908e-08	16	35				
ME3	10873	broad.mit.edu	37	11	86382833	86382833	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:86382833C>A	ENST00000393324.3	-	1	407	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ME3_ENST00000359636.2_Missense_Mutation_p.D52Y|ME3_ENST00000543262.1_Missense_Mutation_p.D52Y	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	52					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CTGGTGACATCGTATCCGCGC	0.701																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(154-156)Gat>Tat		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						49.0	47.0	48.0					11																	86382833		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86382833C>A	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.154G>T	11.37:g.86382833C>A	ENSP00000376998:p.Asp52Tyr					ME3_ENST00000393324.3_Missense_Mutation_p.D52Y|ME3_ENST00000359636.2_Missense_Mutation_p.D52Y	p.D52Y	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			2	480	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	52					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.154G>T	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705655	0.89018	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000530335;ENST00000532471;ENST00000526834;ENST00000526944	T;T;T;T;T;T;T;T	0.57273	1.79;1.79;1.79;1.79;1.79;0.41;0.41;0.41	5.16	5.16	0.70880	.	0.101483	0.64402	D	0.000004	T	0.66733	0.2819	M	0.82433	2.59	0.80722	D	1	P	0.34639	0.461	P	0.46917	0.531	T	0.67181	-0.5735	9	.	.	.	.	14.2024	0.65712	0.0:1.0:0.0:0.0	.	52	Q16798	MAON_HUMAN	Y	52	ENSP00000352657:D52Y;ENSP00000440246:D52Y;ENSP00000376998:D52Y;ENSP00000431182:D52Y;ENSP00000434690:D52Y;ENSP00000435427:D52Y;ENSP00000437204:D52Y;ENSP00000434431:D52Y	.	D	-	1	0	ME3	86060481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.300000	0.59079	2.408000	0.81797	0.555000	0.69702	GAT		0.701	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			15	28	1	0	5.35267e-07	1	5.60756e-07	15	28				
APOB	338	broad.mit.edu	37	2	21247865	21247865	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:21247865G>C	ENST00000233242.1	-	16	2503	c.2376C>G	c.(2374-2376)ctC>ctG	p.L792L	APOB_ENST00000399256.4_Silent_p.L792L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	792				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGAGCTGGAGGTCATGGA	0.567																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2374-2376)ctC>ctG		apolipoprotein B	Atorvastatin(DB01076)						83.0	86.0	85.0					2																	21247865		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21247865G>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2376C>G	2.37:g.21247865G>C						APOB_ENST00000399256.4_Silent_p.L792L	p.L792L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			16	2503	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		792	LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2376C>G	CCDS1703.1																																																																																				0.567	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	78	0	0	0	1	0	19	78				
CNGA2	1260	broad.mit.edu	37	X	150912215	150912215	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:150912215G>C	ENST00000329903.4	+	6	1273	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	414					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGTGGTTTGACTACTTGTG	0.502																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1240-1242)Gac>Cac		cyclic nucleotide gated channel alpha 2							79.0	69.0	73.0					X																	150912215		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912215G>C	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1240G>C	X.37:g.150912215G>C	ENSP00000328478:p.Asp414His						p.D414H	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1273	+	Acute lymphoblastic leukemia(192;6.56e-05)		414					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1240G>C	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469343	0.63625	.	.	ENSG00000183862	ENST00000329903	D	0.96802	-4.13	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	M	0.89904	3.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99482	1.0948	10	0.87932	D	0	.	14.8649	0.70406	0.0:0.0:1.0:0.0	.	414	Q16280	CNGA2_HUMAN	H	414	ENSP00000328478:D414H	ENSP00000328478:D414H	D	+	1	0	CNGA2	150662871	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.183000	0.69458	0.529000	0.55759	GAC		0.502	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		15	21	0	0	0	1	0	15	21				
ARFGAP3	26286	broad.mit.edu	37	22	43213818	43213818	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:43213818C>T	ENST00000263245.5	-	10	1077	c.858G>A	c.(856-858)atG>atA	p.M286I	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.M214I|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.M242I	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	286					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						cgtctttcttcatttgaattt	0.343																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(856-858)atG>atA		ADP-ribosylation factor GTPase activating protein 3							224.0	201.0	209.0					22																	43213818		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213818C>T	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.858G>A	22.37:g.43213818C>T	ENSP00000263245:p.Met286Ile					ARFGAP3_ENST00000429508.2_Missense_Mutation_p.M214I|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.M242I	p.M286I	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1077	-			286					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.858G>A	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026551|3.026551	0.54683|0.54683	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000453516|ENST00000263245;ENST00000429508;ENST00000437119	.|T;T;T	.|0.05513	.|3.58;3.43;3.56	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.248378	.|0.41194	.|D	.|0.000934	T|T	0.09555|0.09555	0.0235|0.0235	L|L	0.53249|0.53249	1.67|1.67	0.27830|0.27830	N|N	0.941477|0.941477	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.06405	.|0.002;0.001;0.001	T|T	0.05225|0.05225	-1.0898|-1.0898	5|10	.|0.49607	.|T	.|0.09	-3.3662|-3.3662	15.9594|15.9594	0.79918|0.79918	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|214;242;286	.|C9JZR4;E9PB03;Q9NP61	.|.;.;ARFG3_HUMAN	K|I	133|286;214;242	.|ENSP00000263245:M286I;ENSP00000393959:M214I;ENSP00000388791:M242I	.|ENSP00000263245:M286I	E|M	-|-	1|3	0|0	ARFGAP3|ARFGAP3	41543762|41543762	0.313000|0.313000	0.24554|0.24554	0.990000|0.990000	0.47175|0.47175	0.985000|0.985000	0.73830|0.73830	0.390000|0.390000	0.20768|0.20768	2.490000|2.490000	0.84030|0.84030	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.343	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		20	95	0	0	0	1	0	20	95				
ZNF252P	286101	broad.mit.edu	37	8	146220446	146220446	+	RNA	SNP	G	G	A	rs4489360	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:146220446G>A	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						TGGCACATACGAGATCTCTGA	0.502													G|||	1531	0.305711	0.553	0.3372	5008	,	,		20599	0.3214		0.0974	False		,,,				2504	0.1472					ENST00000426361.2																			0				endometrium(1)	1																																														286101							g.chr8:146220446G>A	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220446G>A								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.502	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		3	37	0	0	0	1	0	3	37				
CDKN2A	1029	broad.mit.edu	37	9	21971121	21971121	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:21971121G>A	ENST00000304494.5	-	2	507	c.237C>T	c.(235-237)acC>acT	p.T79T	CDKN2A_ENST00000446177.1_Silent_p.T79T|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94S|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Silent_p.T28T|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94S|CDKN2A_ENST00000498124.1_Silent_p.T79T|CDKN2A_ENST00000579122.1_Silent_p.T79T|CDKN2A_ENST00000479692.2_Silent_p.T28T|CDKN2A_ENST00000494262.1_Silent_p.T28T|CDKN2A_ENST00000578845.2_Silent_p.T28T|CDKN2A_ENST00000498628.2_Silent_p.T28T|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135S	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	79					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.R80*(9)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T79T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCACGGGTCGGGTGAGAGTGG	0.731	R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	R80*(MEWO_SKIN)	17																	1376	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(9)|Deletion - Frameshift(5)|Deletion - In frame(1)|Substitution - coding silent(1)	p.0?(1315)|p.?(44)|p.R80*(9)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T79T(1)	haematopoietic_and_lymphoid_tissue(283)|skin(180)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(75)|soft_tissue(59)|oesophagus(55)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(280-282)Ccg>Tcg		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971121		2172	4246	6418	SO:0001819	synonymous_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971121G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.237C>T	9.37:g.21971121G>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Silent_p.T79T|CDKN2A_ENST00000479692.2_Silent_p.T28T|CDKN2A_ENST00000498124.1_Silent_p.T79T|CDKN2A_ENST00000498628.2_Silent_p.T28T|CDKN2A_ENST00000304494.5_Silent_p.T79T|CDKN2A_ENST00000494262.1_Silent_p.T28T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94S|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135S|CDKN2A_ENST00000497750.1_Silent_p.T28T|CDKN2A_ENST00000579122.1_Silent_p.T79T|CDKN2A_ENST00000578845.2_Silent_p.T28T	p.P94S			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	572	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> Q (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.280C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555576	0.86231	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	D;D	0.86366	-2.11;-2.0	5.93	4.04	0.47022	.	0.000000	0.37136	N	0.002233	T	0.79551	0.4465	.	.	.	0.39741	D	0.971746	P	0.35507	0.506	B	0.30782	0.12	T	0.79308	-0.1857	9	0.51188	T	0.08	-7.4112	8.3417	0.32247	0.0727:0.0:0.6556:0.2717	.	135	Q8N726	CD2A2_HUMAN	S	135;94	ENSP00000355153:P135S;ENSP00000432664:P94S	ENSP00000355153:P135S	P	-	1	0	CDKN2A	21961121	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.550000	0.36223	1.465000	0.48006	0.650000	0.86243	CCG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	9	0	0	0	1	0	6	9				
AKAP6	9472	broad.mit.edu	37	14	33291302	33291302	+	Missense_Mutation	SNP	C	C	T	rs537245618		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:33291302C>T	ENST00000280979.4	+	13	4453	c.4283C>T	c.(4282-4284)tCg>tTg	p.S1428L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1428					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCTCTCAGTCGTCCATTTCA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		20674	0.0		0.0	False		,,,				2504	0.001				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4282-4284)tCg>tTg		A kinase (PRKA) anchor protein 6							53.0	53.0	53.0					14																	33291302		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291302C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4283C>T	14.37:g.33291302C>T	ENSP00000280979:p.Ser1428Leu					AKAP6_ENST00000557272.1_Intron	p.S1428L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4453	+	Breast(36;0.0388)|Prostate(35;0.15)		1428					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4283C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857442	0.17106	.	.	ENSG00000151320	ENST00000280979	T	0.05855	3.38	5.6	4.7	0.59300	.	0.828401	0.10827	N	0.629804	T	0.03871	0.0109	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42515	-0.9447	10	0.24483	T	0.36	0.6226	7.3337	0.26596	0.0:0.7881:0.0:0.2119	.	1428	Q13023	AKAP6_HUMAN	L	1428	ENSP00000280979:S1428L	ENSP00000280979:S1428L	S	+	2	0	AKAP6	32361053	0.977000	0.34250	0.997000	0.53966	0.984000	0.73092	1.375000	0.34295	1.321000	0.45227	0.563000	0.77884	TCG		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		9	58	0	0	0	1	0	9	58				
BBX	56987	broad.mit.edu	37	3	107474523	107474523	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:107474523G>A	ENST00000325805.8	+	10	1191	c.904G>A	c.(904-906)Gag>Aag	p.E302K	BBX_ENST00000402543.1_Missense_Mutation_p.E302K|BBX_ENST00000406780.1_Missense_Mutation_p.E302K|BBX_ENST00000415149.2_Missense_Mutation_p.E302K|BBX_ENST00000416476.2_Missense_Mutation_p.E302K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	302					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TCAACTGGCAGAGGCAAGTTC	0.398																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(904-906)Gag>Aag		bobby sox homolog (Drosophila)							100.0	109.0	106.0					3																	107474523		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107474523G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.904G>A	3.37:g.107474523G>A	ENSP00000319974:p.Glu302Lys					BBX_ENST00000416476.2_Missense_Mutation_p.E302K|BBX_ENST00000406780.1_Missense_Mutation_p.E302K|BBX_ENST00000325805.8_Missense_Mutation_p.E302K|BBX_ENST00000402543.1_Missense_Mutation_p.E302K	p.E302K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		10	1231	+			302					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.904G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956632	0.92726	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	D;D;D;D;D;D	0.99252	-4.81;-4.81;-4.81;-5.63;-5.37;-4.81	5.57	5.57	0.84162	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.191102	0.53938	D	0.000042	D	0.99302	0.9756	M	0.75264	2.295	0.41571	D	0.988685	D;D;D;D	0.89917	1.0;1.0;0.992;0.99	D;D;P;D	0.91635	0.999;0.999;0.883;0.979	D	0.99174	1.0865	10	0.87932	D	0	-18.085	15.3872	0.74711	0.0:0.0:1.0:0.0	.	302;302;302;302	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	K	302;153;302;302;302;302;302	ENSP00000408358:E302K;ENSP00000385317:E302K;ENSP00000319974:E302K;ENSP00000403860:E302K;ENSP00000385518:E302K;ENSP00000385530:E302K	ENSP00000319742:E153K	E	+	1	0	BBX	108957213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.719000	0.68462	2.779000	0.95612	0.591000	0.81541	GAG		0.398	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		21	68	0	0	0	1	0	21	68				
TDRD10	126668	broad.mit.edu	37	1	154492809	154492809	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:154492809C>G	ENST00000368480.3	+	5	256	c.171C>G	c.(169-171)ttC>ttG	p.F57L	TDRD10_ENST00000368482.4_Missense_Mutation_p.F57L			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAAAGGACTTCAACCCTCTTG	0.423																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(169-171)ttC>ttG		tudor domain containing 10							154.0	148.0	150.0					1																	154492809		1922	4140	6062	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154492809C>G	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.171C>G	1.37:g.154492809C>G	ENSP00000357465:p.Phe57Leu					TDRD10_ENST00000368480.3_Missense_Mutation_p.F57L	p.F57L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1009	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		57			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.171C>G	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.148715	0.57151	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.78481	-1.18;-1.18	3.78	0.812	0.18744	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.48040	0.1478	L	0.37466	1.105	0.09310	N	0.999991	B;B	0.33345	0.409;0.206	B;B	0.34489	0.184;0.115	T	0.44174	-0.9345	9	0.72032	D	0.01	.	5.1738	0.15124	0.0:0.6037:0.0:0.3963	.	57;57	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	L	57	ENSP00000357467:F57L;ENSP00000357465:F57L	ENSP00000357465:F57L	F	+	3	2	TDRD10	152759433	0.398000	0.25279	0.874000	0.34290	0.700000	0.40528	0.116000	0.15561	0.368000	0.24481	0.558000	0.71614	TTC		0.423	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		12	53	0	0	0	1	0	12	53				
RIF1	55183	broad.mit.edu	37	2	152318772	152318772	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:152318772A>T	ENST00000243326.5	+	27	3727	c.3244A>T	c.(3244-3246)Atg>Ttg	p.M1082L	RIF1_ENST00000453091.2_Missense_Mutation_p.M1082L|RIF1_ENST00000428287.2_Missense_Mutation_p.M1082L|RIF1_ENST00000444746.2_Missense_Mutation_p.M1082L|RIF1_ENST00000430328.2_Missense_Mutation_p.M1082L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATTCCTGCCATGTATAATAA	0.333																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(3244-3246)Atg>Ttg		RAP1 interacting factor homolog (yeast)							59.0	60.0	59.0					2																	152318772		2200	4297	6497	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152318772A>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3244A>T	2.37:g.152318772A>T	ENSP00000243326:p.Met1082Leu					RIF1_ENST00000444746.2_Missense_Mutation_p.M1082L|RIF1_ENST00000453091.2_Missense_Mutation_p.M1082L|RIF1_ENST00000430328.2_Missense_Mutation_p.M1082L|RIF1_ENST00000428287.2_Missense_Mutation_p.M1082L	p.M1082L			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	27	3727	+			1082					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.3244A>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546421	0.27652	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09445	2.99;2.98;2.98;2.99;2.98	5.82	3.24	0.37175	.	0.208402	0.56097	N	0.000025	T	0.04907	0.0132	N	0.10629	0.01	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.11329	0.005;0.006	T	0.36672	-0.9738	10	0.13108	T	0.6	-11.9947	9.5692	0.39418	0.7572:0.1272:0.0:0.1156	.	1082;1082	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	1082	ENSP00000390181:M1082L;ENSP00000414615:M1082L;ENSP00000415691:M1082L;ENSP00000243326:M1082L;ENSP00000416123:M1082L	ENSP00000243326:M1082L	M	+	1	0	RIF1	152027018	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.624000	0.54231	0.986000	0.38683	0.528000	0.53228	ATG		0.333	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			20	29	0	0	0	1	0	20	29				
WDR81	124997	broad.mit.edu	37	17	1634142	1634142	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:1634142T>G	ENST00000409644.1	+	3	3869	c.3869T>G	c.(3868-3870)aTc>aGc	p.I1290S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.I63S|WDR81_ENST00000309182.5_Missense_Mutation_p.I239S|WDR81_ENST00000545662.1_De_novo_Start_OutOfFrame|WDR81_ENST00000446363.1_De_novo_Start_InFrame|WDR81_ENST00000437219.2_Missense_Mutation_p.I87S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1290					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCGACATCGTGTCAGGG	0.642																																						ENST00000545662.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16								WD repeat domain 81							63.0	63.0	63.0					17																	1634142		2203	4299	6502	SO:0001583	missense	124997							g.chr17:1634142T>G	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3869T>G	17.37:g.1634142T>G	ENSP00000386609:p.Ile1290Ser					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_De_novo_Start_InFrame|WDR81_ENST00000437219.2_Missense_Mutation_p.I87S|WDR81_ENST00000309182.5_Missense_Mutation_p.I239S|WDR81_ENST00000409644.1_Missense_Mutation_p.I1290S|WDR81_ENST00000419248.1_Missense_Mutation_p.I63S				B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	0	121	+								B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Translation_Start_Site	SNP	ENST00000409644.1	37		CCDS54062.1	.	.	.	.	.	.	.	.	.	.	T	2.242	-0.373502	0.05034	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T	0.48201	2.57;2.55;2.58;0.82	5.52	4.38	0.52667	.	0.748950	0.12610	N	0.453975	T	0.30230	0.0758	N	0.22421	0.69	0.30627	N	0.757924	B;B;B	0.23937	0.01;0.094;0.01	B;B;B	0.15870	0.006;0.014;0.004	T	0.17776	-1.0358	10	0.11794	T	0.64	.	9.9754	0.41779	0.2688:0.0:0.0:0.7312	.	87;417;239	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	S	87;87;239;63;1290	ENSP00000391074:I87S;ENSP00000312074:I239S;ENSP00000407845:I63S;ENSP00000386609:I1290S	ENSP00000312074:I239S	I	+	2	0	WDR81	1580892	0.017000	0.18338	0.003000	0.11579	0.004000	0.04260	2.379000	0.44318	2.099000	0.63709	0.533000	0.62120	ATC		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		16	54	0	0	0	1	0	16	54				
GPR149	344758	broad.mit.edu	37	3	154147161	154147161	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:154147161C>T	ENST00000389740.2	-	1	343	c.244G>A	c.(244-246)Gtc>Atc	p.V82I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	82					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCGACAGGACGCTCATGAGA	0.478																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(244-246)Gtc>Atc		G protein-coupled receptor 149							93.0	97.0	96.0					3																	154147161		2057	4210	6267	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147161C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.244G>A	3.37:g.154147161C>T	ENSP00000374390:p.Val82Ile						p.V82I	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	343	-			82						Missense_Mutation	SNP	ENST00000389740.2	37	c.244G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545744	0.65198	.	.	ENSG00000174948	ENST00000389740	T	0.37058	1.22	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.125406	0.52532	D	0.000068	T	0.32793	0.0841	L	0.56769	1.78	0.41806	D	0.989948	P	0.42010	0.768	B	0.34652	0.187	T	0.10823	-1.0613	10	0.32370	T	0.25	-17.8218	13.9012	0.63804	0.0:0.9223:0.0:0.0777	.	82	Q86SP6	GP149_HUMAN	I	82	ENSP00000374390:V82I	ENSP00000374390:V82I	V	-	1	0	GPR149	155629855	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.525000	0.53502	2.793000	0.96121	0.655000	0.94253	GTC		0.478	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		7	94	0	0	0	1	0	7	94				
SPATA31D5P	347127	broad.mit.edu	37	9	84531446	84531446	+	RNA	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:84531446A>G	ENST00000527857.1	+	0	1468					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GCCAGTAAAGACAGACTAGAA	0.443																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531446A>G			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531446A>G								NR_026851.1						0	1468	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.443	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		3	3	0	0	0	1	0	3	3				
MYH2	4620	broad.mit.edu	37	17	10427801	10427801	+	Silent	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:10427801A>G	ENST00000245503.5	-	35	5541	c.5157T>C	c.(5155-5157)gtT>gtC	p.V1719V	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1719V|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1719					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGTAGCTGAACACGCTCAC	0.493																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5155-5157)gtT>gtC		myosin, heavy chain 2, skeletal muscle, adult							90.0	90.0	90.0					17																	10427801		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427801A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5157T>C	17.37:g.10427801A>G						MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1719V|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V1719V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			35	5541	-			1719					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5157T>C	CCDS11156.1																																																																																				0.493	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		23	77	0	0	0	1	0	23	77				
SPRY4	81848	broad.mit.edu	37	5	141694466	141694466	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:141694466C>T	ENST00000434127.2	-	2	451	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.G93R	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	70					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGGCCCCGCCCCGGGTC	0.652									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(277-279)Ggg>Agg		sprouty homolog 4 (Drosophila)							21.0	27.0	25.0					5																	141694466		2198	4294	6492	SO:0001583	missense	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694466C>T	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.208G>A	5.37:g.141694466C>T	ENSP00000399468:p.Gly70Arg					SPRY4_ENST00000434127.2_Missense_Mutation_p.G70R	p.G93R	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	463	-		all_hematologic(541;0.118)	70					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.277G>A	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	4.060	0.008938	0.07912	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661	T;T	0.63255	-0.03;-0.02	5.55	5.55	0.83447	.	0.196377	0.28983	N	0.013513	T	0.54303	0.1850	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.41569	0.755;0.029	P;B	0.45856	0.495;0.007	T	0.51028	-0.8757	10	0.33141	T	0.24	-9.0737	14.0347	0.64638	0.0:0.7277:0.2723:0.0	.	70;70	Q9C004-2;Q9C004	.;SPY4_HUMAN	R	93;70;70	ENSP00000344967:G93R;ENSP00000399468:G70R	ENSP00000344967:G93R	G	-	1	0	SPRY4	141674650	0.779000	0.28652	0.178000	0.23040	0.090000	0.18270	1.939000	0.40213	2.620000	0.88729	0.561000	0.74099	GGG		0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			10	45	0	0	0	1	0	10	45				
GALNT3	2591	broad.mit.edu	37	2	166615334	166615334	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:166615334C>G	ENST00000392701.3	-	6	1889	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q	GALNT3_ENST00000409882.1_Missense_Mutation_p.E110Q	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	372	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAAAATATTCTTTTGATATG	0.284																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1114-1116)Gaa>Caa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							60.0	67.0	65.0					2																	166615334		2200	4284	6484	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166615334C>G		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1114G>C	2.37:g.166615334C>G	ENSP00000376465:p.Glu372Gln					GALNT3_ENST00000409882.1_Missense_Mutation_p.E110Q	p.E372Q	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			6	1889	-			372			Catalytic subdomain B.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1114G>C	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901615	0.33535	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.61980	0.06;0.06;0.06	5.47	2.64	0.31445	Glycosyl transferase, family 2 (1);	0.550466	0.19838	N	0.104905	T	0.45617	0.1351	N	0.25031	0.7	0.29204	N	0.875017	B	0.06786	0.001	B	0.16722	0.016	T	0.35276	-0.9795	10	0.27082	T	0.32	.	11.2966	0.49282	0.0:0.7957:0.0:0.2043	.	372	Q14435	GALT3_HUMAN	Q	372;110;372	ENSP00000376465:E372Q;ENSP00000386955:E110Q;ENSP00000412643:E372Q	ENSP00000376465:E372Q	E	-	1	0	GALNT3	166323580	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	2.224000	0.42945	0.670000	0.31165	-0.262000	0.10625	GAA		0.284	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		21	68	0	0	0	1	0	21	68				
NGEF	25791	broad.mit.edu	37	2	233759519	233759519	+	Silent	SNP	G	G	A	rs199543898		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:233759519G>A	ENST00000264051.3	-	6	1214	c.936C>T	c.(934-936)tcC>tcT	p.S312S	NGEF_ENST00000539537.1_Silent_p.S35S|NGEF_ENST00000409079.1_Silent_p.S220S|NGEF_ENST00000373552.4_Silent_p.S220S	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	312	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTGCGCCTCGGACGGGTGCA	0.607													g|||	1	0.000199681	0.0	0.0	5008	,	,		17698	0.0		0.001	False		,,,				2504	0.0					ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(934-936)tcC>tcT		neuronal guanine nucleotide exchange factor							114.0	97.0	103.0					2																	233759519		2203	4299	6502	SO:0001819	synonymous_variant	25791				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233759519G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.936C>T	2.37:g.233759519G>A						NGEF_ENST00000373552.4_Silent_p.S220S|NGEF_ENST00000409079.1_Silent_p.S220S|NGEF_ENST00000539537.1_Silent_p.S35S	p.S312S	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	6	1214	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	312			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	c.936C>T	CCDS2500.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	7.733	0.699715	0.15106	.	.	ENSG00000066248	ENST00000420650	.	.	.	5.22	-10.4	0.00318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.5545	2.7253	0.05212	0.4888:0.142:0.1573:0.2119	.	.	.	.	X	105	.	.	R	-	1	2	NGEF	233467763	0.000000	0.05858	0.457000	0.27056	0.829000	0.46940	-4.587000	0.00212	-2.064000	0.00888	-0.821000	0.03111	CGA		0.607	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		23	58	0	0	0	1	0	23	58				
KANK1	23189	broad.mit.edu	37	9	713055	713055	+	Silent	SNP	G	G	A	rs557119004		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:713055G>A	ENST00000382303.1	+	7	2941	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.Q605Q|KANK1_ENST00000382297.2_Silent_p.Q763Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	763					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTGTGGGGCAGATAAATATTA	0.517																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(2287-2289)caG>caA		KN motif and ankyrin repeat domains 1							92.0	94.0	93.0					9																	713055		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713055G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2289G>A	9.37:g.713055G>A						KANK1_ENST00000382293.3_Silent_p.Q605Q|KANK1_ENST00000382297.2_Silent_p.Q763Q|KANK1_ENST00000489369.1_3'UTR	p.Q763Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2941	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	763					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.2289G>A	CCDS34976.1																																																																																				0.517	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		23	65	0	0	0	1	0	23	65				
HCN3	57657	broad.mit.edu	37	1	155255061	155255061	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:155255061G>A	ENST00000368358.3	+	5	1203	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	399					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGTTCGATGAGGAAAGCAT	0.627																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1195-1197)Gag>Aag		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							63.0	55.0	58.0					1																	155255061		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255061G>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1195G>A	1.37:g.155255061G>A	ENSP00000357342:p.Glu399Lys					HCN3_ENST00000496230.1_3'UTR	p.E399K	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	1203	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		399					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.1195G>A	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664160	0.96745	.	.	ENSG00000143630	ENST00000368358	D	0.97186	-4.28	5.21	5.21	0.72293	Cyclic nucleotide-binding-like (1);	0.000000	0.52532	D	0.000078	D	0.98679	0.9557	M	0.93150	3.385	0.80722	D	1	D;P	0.63046	0.992;0.948	D;D	0.64321	0.92;0.924	D	0.99474	1.0946	10	0.72032	D	0.01	.	16.5955	0.84795	0.0:0.0:1.0:0.0	.	94;399	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	K	399	ENSP00000357342:E399K	ENSP00000357342:E399K	E	+	1	0	HCN3	153521685	1.000000	0.71417	0.951000	0.38953	0.928000	0.56348	9.813000	0.99286	2.590000	0.87494	0.563000	0.77884	GAG		0.627	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		8	37	0	0	0	1	0	8	37				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000417302.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		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.G12S(58)|p.G12C(25)|p.G12R(12)		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)		CCCACACCGCCGGCGCCCACC	0.647		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"""		95	Substitution - Missense(95)	p.G12S(58)|p.G12C(25)|p.G12R(12)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(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	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)Ggc>Agc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	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.chr11:534289C>T	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.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S	p.G12S	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)	2	221	-		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)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		44	40	0	0	0	1	0	44	40				
SNORD3C	780853	broad.mit.edu	37	17	19091407	19091407	+	lincRNA	SNP	C	C	G	rs573709569	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:19091407C>G	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		ccgaaaaccacgaggaagaga	0.493																																						ENST00000365494.1																			0																				35.0	20.0	24.0					17																	19091407		874	1977	2851			780851							g.chr17:19091407C>G			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091407C>G														0	79	+									RNA	SNP	ENST00000362428.1	37																																																																																						0.493	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		24	632	0	0	0	1	0	24	632				
MBD5	55777	broad.mit.edu	37	2	149247890	149247890	+	Silent	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:149247890C>G	ENST00000407073.1	+	12	4987	c.3990C>G	c.(3988-3990)gtC>gtG	p.V1330V	MBD5_ENST00000404807.1_Silent_p.V1563V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1330					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTCTCTGGTCAAAGACTACA	0.448																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3988-3990)gtC>gtG		methyl-CpG binding domain protein 5							64.0	67.0	66.0					2																	149247890		2203	4300	6503	SO:0001819	synonymous_variant	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247890C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3990C>G	2.37:g.149247890C>G						MBD5_ENST00000404807.1_Silent_p.V1563V	p.V1330V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4987	+			1330					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.3990C>G	CCDS33302.1																																																																																				0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			5	68	0	0	0	1	0	5	68				
BFSP2	8419	broad.mit.edu	37	3	133119350	133119350	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:133119350G>A	ENST00000302334.2	+	1	512	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	141	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGCACCTGGAGAGCAAAGCCA	0.597																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(421-423)gaG>gaA		beaded filament structural protein 2, phakinin							33.0	39.0	37.0					3																	133119350		2203	4300	6503	SO:0001819	synonymous_variant	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119350G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.423G>A	3.37:g.133119350G>A							p.E141E	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	512	+			141			Rod.		Q14D32|Q9HBW5	Silent	SNP	ENST00000302334.2	37	c.423G>A	CCDS33859.1																																																																																				0.597	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			9	35	0	0	0	1	0	9	35				
HOXB8	3218	broad.mit.edu	37	17	46690733	46690733	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:46690733C>T	ENST00000239144.4	-	2	797	c.563G>A	c.(562-564)aGa>aAa	p.R188K	HOXB7_ENST00000567101.2_Intron|HOXB7_ENST00000239165.7_5'Flank|HOXB8_ENST00000576562.1_Missense_Mutation_p.R187K	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	188					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TTTGACCTGTCTCTCTGTCAG	0.522																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(562-564)aGa>aAa		homeobox B8							117.0	110.0	112.0					17																	46690733		2203	4300	6503	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690733C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.563G>A	17.37:g.46690733C>T	ENSP00000239144:p.Arg188Lys					HOXB8_ENST00000576562.1_Missense_Mutation_p.R187K|HOXB7_ENST00000567101.1_Intron	p.R188K	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			2	797	-			188					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.563G>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555327	0.65425	.	.	ENSG00000120068	ENST00000239144	D	0.96232	-3.95	3.08	3.08	0.35506	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.43416	U	0.000566	D	0.96824	0.8963	L	0.45698	1.435	0.58432	D	0.999999	P	0.49185	0.92	D	0.66716	0.946	D	0.97383	0.9984	10	0.87932	D	0	.	14.6622	0.68879	0.0:1.0:0.0:0.0	.	188	P17481	HXB8_HUMAN	K	188	ENSP00000239144:R188K	ENSP00000239144:R188K	R	-	2	0	HOXB8	44045732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.010000	0.76353	1.738000	0.51689	0.484000	0.47621	AGA		0.522	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			15	98	0	0	0	1	0	15	98				
CASP8	841	broad.mit.edu	37	2	202137385	202137385	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:202137385A>G	ENST00000432109.2	+	5	625	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	CASP8_ENST00000392259.2_Missense_Mutation_p.M146V|CASP8_ENST00000392266.3_Missense_Mutation_p.M146V|CASP8_ENST00000392258.3_Missense_Mutation_p.M146V|CASP8_ENST00000264275.5_Missense_Mutation_p.M178V|CASP8_ENST00000323492.7_Missense_Mutation_p.M146V|CASP8_ENST00000264274.9_Missense_Mutation_p.M146V|CASP8_ENST00000358485.4_Missense_Mutation_p.M205V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	146	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTCATAGAGATGGAGAAGAG	0.393										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(613-615)Atg>Gtg		caspase 8, apoptosis-related cysteine peptidase							121.0	126.0	124.0					2																	202137385		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137385A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.436A>G	2.37:g.202137385A>G	ENSP00000412523:p.Met146Val	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Missense_Mutation_p.M146V|CASP8_ENST00000392258.3_Missense_Mutation_p.M146V|CASP8_ENST00000392259.2_Missense_Mutation_p.M146V|CASP8_ENST00000432109.2_Missense_Mutation_p.M146V|CASP8_ENST00000323492.7_Missense_Mutation_p.M146V|CASP8_ENST00000264275.5_Missense_Mutation_p.M178V|CASP8_ENST00000392266.3_Missense_Mutation_p.M146V	p.M205V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			4	809	+			146					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.613A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510916	0.64522	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	T;D;D;D;T;D;D;D;D;T;D;T;D;D	0.83506	4.13;-1.73;-1.73;-1.73;4.21;-1.73;-1.73;-1.73;-1.73;4.15;-1.73;4.13;-1.73;-1.73	5.98	5.98	0.97165	DEATH-like (2);Death effector (3);	0.078928	0.85682	D	0.000000	D	0.90428	0.7003	M	0.84846	2.72	0.39513	D	0.968395	D;D;D;D;D;D;D;D;D;D	0.76494	0.961;0.991;0.997;0.997;0.999;0.997;0.995;0.997;0.994;0.999	P;P;D;D;D;D;D;D;D;D	0.83275	0.835;0.844;0.969;0.948;0.985;0.948;0.983;0.961;0.948;0.996	D	0.88885	0.3342	10	0.10111	T	0.7	.	14.2105	0.65762	1.0:0.0:0.0:0.0	.	146;146;146;146;146;205;146;146;178;146	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	V	146;146;146;146;146;178;43;146;146;205;146;146;146;9;9	ENSP00000376091:M146V;ENSP00000264274:M146V;ENSP00000376088:M146V;ENSP00000376094:M146V;ENSP00000412523:M146V;ENSP00000264275:M178V;ENSP00000391709:M43V;ENSP00000376087:M146V;ENSP00000388306:M146V;ENSP00000351273:M205V;ENSP00000397528:M146V;ENSP00000325722:M146V;ENSP00000390346:M9V;ENSP00000394434:M9V	ENSP00000264274:M146V	M	+	1	0	CASP8	201845630	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	6.472000	0.73567	2.289000	0.77006	0.482000	0.46254	ATG		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		56	73	0	0	0	1	0	56	73				
C5orf42	65250	broad.mit.edu	37	5	37162628	37162628	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:37162628G>A	ENST00000508244.1	-	37	7722	c.7629C>T	c.(7627-7629)ttC>ttT	p.F2543F	C5orf42_ENST00000425232.2_Silent_p.F2543F|C5orf42_ENST00000274258.7_Silent_p.F1423F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2543						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGAGGCCATGAAATGCAATC	0.318																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4267-4269)ttC>ttT		chromosome 5 open reading frame 42							99.0	101.0	100.0					5																	37162628		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37162628G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7629C>T	5.37:g.37162628G>A						C5orf42_ENST00000425232.2_Silent_p.F2543F|C5orf42_ENST00000508244.1_Silent_p.F2543F	p.F1423F			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		38	7856	-	all_lung(31;0.000616)		2543					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.4269C>T	CCDS34146.2																																																																																				0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		15	65	0	0	0	1	0	15	65				
PPP4R1	9989	broad.mit.edu	37	18	9559477	9559477	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:9559477G>A	ENST00000400556.3	-	14	2041	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	PPP4R1_ENST00000400555.3_Silent_p.L639L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	656					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TCTGTCTTCCGAGTGTCAAGG	0.478																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1966-1968)ctC>ctT		protein phosphatase 4, regulatory subunit 1							202.0	186.0	191.0					18																	9559477		2024	4187	6211	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559477G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1968C>T	18.37:g.9559477G>A						PPP4R1_ENST00000400555.3_Silent_p.L639L	p.L656L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	2041	-			656					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.1968C>T	CCDS42412.1																																																																																				0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		7	192	0	0	0	1	0	7	192				
NID1	4811	broad.mit.edu	37	1	236189232	236189232	+	Missense_Mutation	SNP	G	G	A	rs562243335		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:236189232G>A	ENST00000264187.6	-	8	2030	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	NID1_ENST00000366595.3_Missense_Mutation_p.R650C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	650	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGAGCATAGCGCAAGATCTTC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19346	0.0		0.0	False		,,,				2504	0.0					ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1948-1950)Cgc>Tgc		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						211.0	191.0	198.0					1																	236189232		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236189232G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1948C>T	1.37:g.236189232G>A	ENSP00000264187:p.Arg650Cys					NID1_ENST00000366595.3_Missense_Mutation_p.R650C	p.R650C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	2030	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	650			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1948C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027408	0.75390	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.28895	1.59;1.59	5.02	4.04	0.47022	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66256	-0.5969	10	0.87932	D	0	.	16.0327	0.80593	0.0:0.0:0.8568:0.1432	.	650;650	P14543-2;P14543	.;NID1_HUMAN	C	650	ENSP00000264187:R650C;ENSP00000355554:R650C	ENSP00000264187:R650C	R	-	1	0	NID1	234255855	1.000000	0.71417	0.994000	0.49952	0.876000	0.50452	7.188000	0.77739	2.600000	0.87896	0.655000	0.94253	CGC		0.572	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		44	182	0	0	0	1	0	44	182				
SDK1	221935	broad.mit.edu	37	7	4247876	4247876	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:4247876G>A	ENST00000404826.2	+	37	5499	c.5360G>A	c.(5359-5361)gGa>gAa	p.G1787E	SDK1_ENST00000389531.3_Missense_Mutation_p.G1767E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1787	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1787V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCGGAGATGGACCTAAGAGT	0.617																																						ENST00000404826.2																			1	Substitution - Missense(1)	p.G1787V(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5359-5361)gGa>gAa		sidekick cell adhesion molecule 1							62.0	63.0	63.0					7																	4247876		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4247876G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5360G>A	7.37:g.4247876G>A	ENSP00000385899:p.Gly1787Glu					SDK1_ENST00000389531.3_Missense_Mutation_p.G1767E	p.G1787E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	37	5499	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1787			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5360G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388218	0.61956	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.63255	-0.03;-0.03	4.82	4.82	0.62117	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.88775	0.6528	H	0.99444	4.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94137	0.7393	10	0.87932	D	0	.	17.9008	0.88902	0.0:0.0:1.0:0.0	.	1767;274;1787	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	E	1787;35;1767	ENSP00000385899:G1787E;ENSP00000374182:G1767E	ENSP00000374182:G1767E	G	+	2	0	SDK1	4214402	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	9.687000	0.98667	2.224000	0.72417	0.655000	0.94253	GGA		0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		11	42	0	0	0	1	0	11	42				
KIT	3815	broad.mit.edu	37	4	55565907	55565907	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:55565907C>G	ENST00000288135.5	+	4	828	c.731C>G	c.(730-732)tCa>tGa	p.S244*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	244	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTGTACTCAACGTGGAAA	0.428		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(730-732)tCa>tGa		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						184.0	174.0	178.0					4																	55565907		2203	4300	6503	SO:0001587	stop_gained	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55565907C>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.731C>G	4.37:g.55565907C>G	ENSP00000288135:p.Ser244*						p.S244*	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	4	828	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		244			Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	37	c.731C>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752264	0.69533	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	.	.	.	5.92	5.92	0.95590	.	0.117017	0.38897	N	0.001538	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	18.4972	0.90869	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000288135:S244X	S	+	2	0	KIT	55260664	0.555000	0.26530	0.015000	0.15790	0.003000	0.03518	4.657000	0.61490	2.809000	0.96659	0.557000	0.71058	TCA		0.428	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			24	99	0	0	0	1	0	24	99				
TTC37	9652	broad.mit.edu	37	5	94820490	94820490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:94820490G>A	ENST00000358746.2	-	38	4289	c.3991C>T	c.(3991-3993)Caa>Taa	p.Q1331*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1331						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTGACAGCTTGTGAGAGAGAC	0.348																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3991-3993)Caa>Taa		tetratricopeptide repeat domain 37							129.0	129.0	129.0					5																	94820490		2202	4300	6502	SO:0001587	stop_gained	9652						binding	g.chr5:94820490G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3991C>T	5.37:g.94820490G>A	ENSP00000351596:p.Gln1331*						p.Q1331*	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			38	4289	-			1331					O15077|Q6PJI3	Nonsense_Mutation	SNP	ENST00000358746.2	37	c.3991C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	44	11.184384	0.99528	.	.	ENSG00000198677	ENST00000358746	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	16.4446	0.83913	0.0:0.1311:0.8689:0.0	.	.	.	.	X	1331	.	ENSP00000351596:Q1331X	Q	-	1	0	TTC37	94846246	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	5.391000	0.66266	2.776000	0.95493	0.650000	0.86243	CAA		0.348	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		16	66	0	0	0	1	0	16	66				
PLG	5340	broad.mit.edu	37	6	161128754	161128754	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:161128754G>C	ENST00000308192.9	+	3	271	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	PLG_ENST00000366924.2_Missense_Mutation_p.E70Q|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	70	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCACAGTAAAGAGCAACAATG	0.318																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(208-210)Gag>Cag		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						170.0	164.0	166.0					6																	161128754		2202	4281	6483	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161128754G>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.208G>C	6.37:g.161128754G>C	ENSP00000308938:p.Glu70Gln					PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.E70Q	p.E70Q	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	3	271	+			70			PAN.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.208G>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	16.49	3.139242	0.56936	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	D;D;D	0.88664	-2.41;-2.41;-2.41	4.32	2.5	0.30297	PAN-1 domain (1);Apple-like (2);	0.181667	0.25894	U	0.027611	T	0.81083	0.4749	M	0.73962	2.25	0.30322	N	0.787521	P	0.42161	0.772	B	0.43575	0.424	T	0.73839	-0.3856	10	0.42905	T	0.14	.	6.4232	0.21756	0.0962:0.0:0.7228:0.181	.	70	P00747	PLMN_HUMAN	Q	70;70;87	ENSP00000355891:E70Q;ENSP00000308938:E70Q;ENSP00000389424:E87Q	ENSP00000308938:E70Q	E	+	1	0	PLG	161048744	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	4.164000	0.58190	0.540000	0.28808	-0.181000	0.13052	GAG		0.318	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		30	152	0	0	0	1	0	30	152				
EXTL1	2134	broad.mit.edu	37	1	26349536	26349536	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:26349536C>T	ENST00000374280.3	+	1	1266	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	133					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTGCCTCCTCCTCCTCC	0.607																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(397-399)ctC>ctT		exostosin-like glycosyltransferase 1							51.0	52.0	51.0					1																	26349536		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349536C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.399C>T	1.37:g.26349536C>T							p.L133L	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1266	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	133					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.399C>T	CCDS271.1																																																																																				0.607	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		13	63	0	0	0	1	0	13	63				
CLMN	79789	broad.mit.edu	37	14	95670430	95670430	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:95670430G>A	ENST00000298912.4	-	9	1369	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	419					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATCGGCAAAGAGTTGGACCT	0.507																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1255-1257)tCt>tTt		calmin (calponin-like, transmembrane)							119.0	115.0	116.0					14																	95670430		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670430G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1256C>T	14.37:g.95670430G>A	ENSP00000298912:p.Ser419Phe						p.S419F	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1369	-			419					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1256C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571878	0.28003	.	.	ENSG00000165959	ENST00000298912	D	0.94046	-3.34	5.91	5.02	0.67125	.	0.000000	0.40469	N	0.001090	D	0.91202	0.7228	M	0.61703	1.905	0.80722	D	1	B	0.18461	0.028	B	0.15870	0.014	D	0.88540	0.3109	10	0.87932	D	0	.	10.82	0.46599	0.0857:0.0:0.9143:0.0	.	419	Q96JQ2	CLMN_HUMAN	F	419	ENSP00000298912:S419F	ENSP00000298912:S419F	S	-	2	0	CLMN	94740183	0.987000	0.35691	0.815000	0.32552	0.185000	0.23345	2.296000	0.43584	1.504000	0.48704	0.655000	0.94253	TCT		0.507	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			23	120	0	0	0	1	0	23	120				
RAD21	5885	broad.mit.edu	37	8	117868516	117868516	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:117868516C>G	ENST00000297338.2	-	8	1113	c.826G>C	c.(826-828)Gat>Cat	p.D276H	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	276					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCAGGACTATCAGGCCCACCC	0.378																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(826-828)Gat>Cat		RAD21 homolog (S. pombe)							100.0	91.0	94.0					8																	117868516		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117868516C>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.826G>C	8.37:g.117868516C>G	ENSP00000297338:p.Asp276His						p.D276H	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			8	1113	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		276					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.826G>C	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827720	0.50845	.	.	ENSG00000164754	ENST00000297338	T	0.54071	0.59	5.61	4.72	0.59763	.	0.042937	0.85682	N	0.000000	T	0.71929	0.3398	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73588	-0.3935	10	0.42905	T	0.14	7.8574	16.3976	0.83621	0.0:0.8681:0.1319:0.0	.	276	O60216	RAD21_HUMAN	H	276	ENSP00000297338:D276H	ENSP00000297338:D276H	D	-	1	0	RAD21	117937697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	1.323000	0.45263	0.650000	0.86243	GAT		0.378	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		37	63	0	0	0	1	0	37	63				
F2	2147	broad.mit.edu	37	11	46748086	46748086	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:46748086G>A	ENST00000311907.5	+	8	969	c.913G>A	c.(913-915)Gag>Aag	p.E305K	F2_ENST00000530231.1_Missense_Mutation_p.E305K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	305					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TGGGCTGGATGAGGACTCAGA	0.617																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(913-915)Gag>Aag		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						67.0	60.0	62.0					11																	46748086		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46748086G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.913G>A	11.37:g.46748086G>A	ENSP00000308541:p.Glu305Lys					F2_ENST00000530231.1_Missense_Mutation_p.E305K	p.E305K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	8	969	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	305					B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.913G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816122	0.32145	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.93604	-2.63;-2.86;-3.25	2.92	0.724	0.18236	Thrombin light chain (1);	1.780910	0.02364	N	0.077122	D	0.89434	0.6714	L	0.42245	1.32	0.09310	N	1	P	0.37466	0.596	B	0.29353	0.101	T	0.80432	-0.1385	10	0.87932	D	0	.	8.6093	0.33793	0.0:0.4612:0.5388:0.0	.	305	P00734	THRB_HUMAN	K	305;305;295	ENSP00000308541:E305K;ENSP00000433907:E305K;ENSP00000387413:E295K	ENSP00000308541:E305K	E	+	1	0	F2	46704662	0.001000	0.12720	0.042000	0.18584	0.015000	0.08874	0.532000	0.23067	0.413000	0.25759	0.455000	0.32223	GAG		0.617	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			13	47	0	0	0	1	0	13	47				
C2orf43	60526	broad.mit.edu	37	2	20990107	20990107	+	Missense_Mutation	SNP	G	G	C	rs36063668	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:20990107G>C	ENST00000237822.3	-	3	285	c.206C>G	c.(205-207)tCt>tGt	p.S69C	C2orf43_ENST00000440866.2_Missense_Mutation_p.S69C|C2orf43_ENST00000381090.3_Missense_Mutation_p.S69C|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000419825.2_Missense_Mutation_p.S69C|C2orf43_ENST00000403006.2_5'UTR	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	69										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGTCAAAGAGTATAAAGC	0.408																																						ENST00000237822.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(205-207)tCt>tGt		chromosome 2 open reading frame 43							84.0	86.0	86.0					2																	20990107		2203	4300	6503	SO:0001583	missense	60526							g.chr2:20990107G>C	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.206C>G	2.37:g.20990107G>C	ENSP00000237822:p.Ser69Cys					C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000381090.3_Missense_Mutation_p.S69C|C2orf43_ENST00000419825.2_Missense_Mutation_p.S69C|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.S69C	p.S69C	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN			3	285	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		69					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.206C>G	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652696	0.29336	.	.	ENSG00000118961	ENST00000381090;ENST00000237822;ENST00000440866;ENST00000402479;ENST00000419825	.	.	.	4.7	3.81	0.43845	.	0.365249	0.30611	N	0.009254	T	0.41419	0.1158	L	0.49778	1.585	0.23806	N	0.996794	B;B;B	0.14805	0.008;0.006;0.011	B;B;B	0.18871	0.01;0.021;0.023	T	0.36359	-0.9751	9	0.45353	T	0.12	-18.758	11.2295	0.48903	0.0:0.1836:0.8164:0.0	.	69;69;69	B4DRG3;Q9H6V9;B5MDU6	.;CB043_HUMAN;.	C	69;69;69;75;69	.	ENSP00000237822:S69C	S	-	2	0	C2orf43	20853588	0.909000	0.30893	0.787000	0.31911	0.982000	0.71751	1.329000	0.33770	1.560000	0.49568	0.655000	0.94253	TCT		0.408	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		27	81	0	0	0	1	0	27	81				
ENPP5	59084	broad.mit.edu	37	6	46129474	46129474	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:46129474G>A	ENST00000371383.2	-	5	1283	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	ENPP5_ENST00000230565.3_Silent_p.Y341Y					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACGCATTATCGTAACCGTGGT	0.363																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1021-1023)taC>taT		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							179.0	191.0	187.0					6																	46129474		2203	4300	6503	SO:0001819	synonymous_variant	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129474G>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1023C>T	6.37:g.46129474G>A						ENPP5_ENST00000230565.3_Silent_p.Y341Y	p.Y341Y			Q9UJA9	ENPP5_HUMAN			5	1283	-			341						Silent	SNP	ENST00000371383.2	37	c.1023C>T	CCDS4915.1																																																																																				0.363	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			29	230	0	0	0	1	0	29	230				
OR13J1	392309	broad.mit.edu	37	9	35870144	35870144	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:35870144G>A	ENST00000377981.2	-	1	317	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGGATGACAGGAGGTGGACCA	0.587																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(253-255)ctC>ctT		olfactory receptor, family 13, subfamily J, member 1							129.0	121.0	124.0					9																	35870144		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870144G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.255C>T	9.37:g.35870144G>A							p.L85L	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	317	-	all_epithelial(49;0.169)		85					B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.255C>T	CCDS35011.1																																																																																				0.587	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			14	55	0	0	0	1	0	14	55				
USP11	8237	broad.mit.edu	37	X	47107270	47107270	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:47107270G>T	ENST00000218348.3	+	21	2833	c.2833G>T	c.(2833-2835)Gcc>Tcc	p.A945S	USP11_ENST00000377107.2_Missense_Mutation_p.A902S	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	945					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCATCTGGCGCCCCAGCCTC	0.602																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(2704-2706)Gcc>Tcc		ubiquitin specific peptidase 11							20.0	18.0	19.0					X																	47107270		2202	4299	6501	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47107270G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2833G>T	X.37:g.47107270G>T	ENSP00000218348:p.Ala945Ser					USP11_ENST00000218348.3_Missense_Mutation_p.A945S	p.A902S			P51784	UBP11_HUMAN			21	3058	+			945					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.2704G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	g	8.898	0.955720	0.18507	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20738	2.06;2.05	5.37	-4.46	0.03536	.	1.241230	0.05876	N	0.625560	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.001;0.002	T	0.29488	-1.0010	10	0.26408	T	0.33	-1.0373	2.7493	0.05275	0.2019:0.245:0.394:0.1591	.	671;945	B3KP28;P51784	.;UBP11_HUMAN	S	902;945	ENSP00000366311:A902S;ENSP00000218348:A945S	ENSP00000218348:A945S	A	+	1	0	USP11	46992214	0.022000	0.18835	0.000000	0.03702	0.230000	0.25150	0.682000	0.25335	-0.837000	0.04223	-0.569000	0.04157	GCC		0.602	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		10	7	1	0	1.33987e-11	1	1.42402e-11	10	7				
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7579521C>A	ENST00000269305.4	-	4	355	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E56*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTGGGTCTTCAGTGAACCAT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Substitution - Missense(3)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|bone(4)|liver(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|pancreas(2)|large_intestine(1)|stomach(1)|endometrium(1)|lung(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(166-168)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							158.0	159.0	159.0					17																	7579521		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579521C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.166G>T	17.37:g.7579521C>A	ENSP00000269305:p.Glu56*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*	p.E56*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	298	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	56		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.166G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594134	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.33	0.2	0.15181	.	1.101100	0.06919	N	0.809088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0048	3.4906	0.07636	0.0:0.5368:0.2153:0.2479	.	.	.	.	X	56	.	ENSP00000269305:E56X	E	-	1	0	TP53	7520246	0.064000	0.20934	0.001000	0.08648	0.010000	0.07245	0.714000	0.25808	0.099000	0.17552	-0.264000	0.10439	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	201	1	0	6.34439e-16	1	6.87569e-16	46	201				
ZNF257	113835	broad.mit.edu	37	19	22272184	22272184	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:22272184A>T	ENST00000594947.1	+	4	1776	c.1632A>T	c.(1630-1632)aaA>aaT	p.K544N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCCCAACAAATATGAAGAAT	0.373																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1630-1632)aaA>aaT		zinc finger protein 257							23.0	27.0	26.0					19																	22272184		2125	4253	6378	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22272184A>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1632A>T	19.37:g.22272184A>T	ENSP00000470209:p.Lys544Asn						p.K544N	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1776	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	544					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1632A>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	8.212	0.800493	0.16397	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36717	0.0977	M	0.78049	2.395	0.09310	N	1	P	0.35575	0.51	B	0.29524	0.103	T	0.37549	-0.9701	8	0.62326	D	0.03	.	3.8373	0.08899	0.7701:0.0:0.2299:0.0	.	544	Q9Y2Q1	ZN257_HUMAN	N	544;516	.	ENSP00000380312:K516N	K	+	3	2	ZNF257	22064024	0.000000	0.05858	0.125000	0.21846	0.115000	0.19883	-2.021000	0.01440	0.436000	0.26393	0.260000	0.18958	AAA		0.373	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			5	25	0	0	0	1	0	5	25				
NCOA3	8202	broad.mit.edu	37	20	46271097	46271097	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:46271097G>A	ENST00000371998.3	+	17	3412	c.3221G>A	c.(3220-3222)aGa>aAa	p.R1074K	NCOA3_ENST00000371997.3_Missense_Mutation_p.R1069K|NCOA3_ENST00000341724.6_Missense_Mutation_p.R1004K|NCOA3_ENST00000372004.3_Missense_Mutation_p.R1074K			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1074	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAAATTGACAGAGCTTTGGGC	0.478																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3220-3222)aGa>aAa		nuclear receptor coactivator 3							109.0	95.0	100.0					20																	46271097		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46271097G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3221G>A	20.37:g.46271097G>A	ENSP00000361066:p.Arg1074Lys					NCOA3_ENST00000341724.6_Missense_Mutation_p.R1004K|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1069K|NCOA3_ENST00000371998.3_Missense_Mutation_p.R1074K	p.R1074K	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			17	3437	+			1074			Interaction with CREBBP.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.3221G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906612	0.92107	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03386	4.09;4.11;4.18;3.95	5.51	5.51	0.81932	Nuclear receptor coactivator, interlocking (1);Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.000000	0.85682	D	0.000000	T	0.08758	0.0217	L	0.43923	1.385	0.80722	D	1	B;B;P;B;B;P	0.40250	0.329;0.228;0.529;0.329;0.282;0.709	B;B;B;B;B;P	0.46975	0.308;0.125;0.4;0.4;0.278;0.533	T	0.16158	-1.0412	10	0.40728	T	0.16	-26.9037	19.785	0.96433	0.0:0.0:1.0:0.0	.	1074;1069;1078;1074;1074;1074	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	K	1074;1004;1074;1074;1069	ENSP00000342123:R1004K;ENSP00000361073:R1074K;ENSP00000361066:R1074K;ENSP00000361065:R1069K	ENSP00000345671:R1074K	R	+	2	0	NCOA3	45704504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.547000	0.82146	2.743000	0.94032	0.650000	0.86243	AGA		0.478	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	35	0	0	0	1	0	4	35				
STAT1	6772	broad.mit.edu	37	2	191835441	191835441	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:191835441C>T	ENST00000361099.3	-	25	2628	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.M747I	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	747					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ATACTGTGTTCATCTGTAAAA	0.363																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2239-2241)atG>atA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						129.0	118.0	121.0					2																	191835441		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191835441C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2241G>A	2.37:g.191835441C>T	ENSP00000354394:p.Met747Ile					STAT1_ENST00000409465.1_Missense_Mutation_p.M747I|STAT1_ENST00000540176.1_3'UTR	p.M747I	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		25	2628	-			747					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.2241G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322437	0.41096	.	.	ENSG00000115415	ENST00000361099;ENST00000409465	D;D	0.87256	-2.23;-2.23	5.04	4.16	0.48862	.	1.428910	0.03874	N	0.276025	D	0.85864	0.5796	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.71593	-0.4546	10	0.66056	D	0.02	-9.3227	8.8409	0.35142	0.0:0.9:0.0:0.1	.	747	P42224	STAT1_HUMAN	I	747	ENSP00000354394:M747I;ENSP00000386244:M747I	ENSP00000354394:M747I	M	-	3	0	STAT1	191543686	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	1.986000	0.40677	1.327000	0.45338	0.655000	0.94253	ATG		0.363	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		12	35	0	0	0	1	0	12	35				
DNM1P47	100216544	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694									DNM1 pseudogene 47																		TTCTCAGAGCTGCTGTCCAAC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294648T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294648T>C														0	2694	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	26	0	0	0	1	0	3	26				
TDO2	6999	broad.mit.edu	37	4	156839325	156839325	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:156839325G>A	ENST00000536354.2	+	11	1065	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		ATGGTGCACAGAATGCTGGGC	0.473																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1000-1002)aGa>aAa		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						147.0	114.0	125.0					4																	156839325		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156839325G>A		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.1001G>A	4.37:g.156839325G>A	ENSP00000444788:p.Arg334Lys						p.R334K	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	11	1065	+	all_hematologic(180;0.24)	Renal(120;0.0854)	334						Missense_Mutation	SNP	ENST00000536354.2	37	c.1001G>A	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239219	0.79800	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.81802	2.56	0.80722	D	1	P	0.42620	0.785	B	0.41917	0.37	T	0.76121	-0.3075	9	0.87932	D	0	-25.9423	19.5501	0.95314	0.0:0.0:1.0:0.0	.	334	P48775	T23O_HUMAN	K	334	.	ENSP00000281525:R334K	R	+	2	0	TDO2	157058775	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.553000	0.82203	2.690000	0.91761	0.591000	0.81541	AGA		0.473	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		19	56	0	0	0	1	0	19	56				
ATXN2L	11273	broad.mit.edu	37	16	28842045	28842045	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:28842045C>T	ENST00000336783.4	+	9	1311	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	382					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R382C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTGCCACCTCGTGGCCCTCA	0.612																																						ENST00000336783.4																			2	Substitution - Missense(2)	p.R382C(2)	lung(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1144-1146)Cgt>Tgt		ataxin 2-like							44.0	44.0	44.0					16																	28842045		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28842045C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1144C>T	16.37:g.28842045C>T	ENSP00000338718:p.Arg382Cys					ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C	p.R382C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			9	1311	+			382					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1144C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	32	5.141986	0.94560	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52295	0.7;0.67;0.68;0.7;0.69	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.68026	0.2956	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.99;0.99;0.996;0.996;0.99;0.996	T	0.67356	-0.5691	10	0.56958	D	0.05	-9.4427	18.8117	0.92059	0.0:1.0:0.0:0.0	.	382;382;382;382;382;382;382;382	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	C	382	ENSP00000341459:R382C;ENSP00000378917:R382C;ENSP00000338718:R382C;ENSP00000372133:R382C;ENSP00000315650:R382C	ENSP00000315650:R382C	R	+	1	0	ATXN2L	28749546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.301000	0.65727	2.750000	0.94351	0.563000	0.77884	CGT		0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		8	30	0	0	0	1	0	8	30				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	9	0	0	0	1	0	6	9				
STAT1	6772	broad.mit.edu	37	2	191840560	191840560	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:191840560C>T	ENST00000361099.3	-	23	2500	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	STAT1_ENST00000392322.3_Missense_Mutation_p.E705K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.E705K|STAT1_ENST00000392323.2_Missense_Mutation_p.E707K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	705					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.E705K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GAAATCAACTCAGTCTTGATA	0.443																																						ENST00000361099.3																			1	Substitution - Missense(1)	p.E705K(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2113-2115)Gag>Aag		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						123.0	108.0	113.0					2																	191840560		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191840560C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2113G>A	2.37:g.191840560C>T	ENSP00000354394:p.Glu705Lys					STAT1_ENST00000392323.2_Missense_Mutation_p.E707K|STAT1_ENST00000392322.3_Missense_Mutation_p.E705K|STAT1_ENST00000409465.1_Missense_Mutation_p.E705K|STAT1_ENST00000540176.1_3'UTR	p.E705K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		23	2500	-			705					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.2113G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829563	0.32329	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.96651	-3.41;-3.41;-4.08;-4.08	5.95	5.95	0.96441	SH2 motif (1);	0.140827	0.64402	D	0.000004	D	0.93432	0.7905	L	0.28014	0.82	0.80722	D	1	P;B	0.44776	0.843;0.002	P;B	0.45610	0.487;0.007	D	0.90669	0.4596	10	0.02654	T	1	-33.6061	20.4024	0.99000	0.0:1.0:0.0:0.0	.	705;705	P42224-2;P42224	.;STAT1_HUMAN	K	705;705;705;707	ENSP00000354394:E705K;ENSP00000386244:E705K;ENSP00000376136:E705K;ENSP00000376137:E707K	ENSP00000354394:E705K	E	-	1	0	STAT1	191548805	0.999000	0.42202	0.848000	0.33437	0.992000	0.81027	4.468000	0.60162	2.827000	0.97445	0.650000	0.86243	GAG		0.443	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		4	48	0	0	0	1	0	4	48				
HSPA13	6782	broad.mit.edu	37	21	15750622	15750622	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:15750622C>T	ENST00000285667.3	-	3	545	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HSPA13_ENST00000544452.1_Intron|HSPA13_ENST00000478035.1_5'Flank	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	160						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGATATGCCTCTGCCATTTCC	0.403																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(478-480)Gag>Aag		heat shock protein 70kDa family, member 13							112.0	100.0	104.0					21																	15750622		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15750622C>T		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.478G>A	21.37:g.15750622C>T	ENSP00000285667:p.Glu160Lys					HSPA13_ENST00000544452.1_Intron	p.E160K	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			3	545	-			160					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.478G>A	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635263	0.96682	.	.	ENSG00000155304	ENST00000285667	T	0.01258	5.09	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00174	-1.1956	10	0.87932	D	0	-22.2451	19.6378	0.95744	0.0:1.0:0.0:0.0	.	160	P48723	HSP13_HUMAN	K	160	ENSP00000285667:E160K	ENSP00000285667:E160K	E	-	1	0	HSPA13	14672493	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.424000	0.80242	2.631000	0.89168	0.655000	0.94253	GAG		0.403	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			10	62	0	0	0	1	0	10	62				
CARF	79800	broad.mit.edu	37	2	203846292	203846292	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:203846292G>A	ENST00000402905.3	+	14	1894	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	CARF_ENST00000438828.2_Missense_Mutation_p.E525K|CARF_ENST00000428585.1_Missense_Mutation_p.E449K|CARF_ENST00000320443.8_Missense_Mutation_p.E525K|CARF_ENST00000545253.1_Missense_Mutation_p.E437K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.E423K|CARF_ENST00000545262.1_Missense_Mutation_p.E449K	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	525					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCACCAGGAGAATCAATTAC	0.358																																						ENST00000320443.8																			0											c.(1573-1575)Gaa>Aaa		calcium responsive transcription factor							47.0	44.0	45.0					2																	203846292		1798	4061	5859	SO:0001583	missense	79800							g.chr2:203846292G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1573G>A	2.37:g.203846292G>A	ENSP00000384006:p.Glu525Lys					CARF_ENST00000414439.1_Missense_Mutation_p.E423K|CARF_ENST00000402905.2_Missense_Mutation_p.E525K|CARF_ENST00000545262.1_Missense_Mutation_p.E449K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.E449K|CARF_ENST00000438828.2_Missense_Mutation_p.E525K|CARF_ENST00000545253.1_Missense_Mutation_p.E437K	p.E525K							14	2616	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1573G>A	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711615	0.68730	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.78	5.78	0.91487	.	0.128204	0.52532	D	0.000079	T	0.71459	0.3342	M	0.67953	2.075	0.44780	D	0.997783	P;P;D	0.63046	0.956;0.956;0.992	P;P;P	0.50791	0.65;0.65;0.65	T	0.74601	-0.3611	9	0.72032	D	0.01	-13.4084	19.0025	0.92839	0.0:0.0:1.0:0.0	.	437;449;525	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	K	525;423;449;437;449;525;525	.	ENSP00000316224:E525K	E	+	1	0	ALS2CR8	203554537	1.000000	0.71417	0.929000	0.37066	0.178000	0.23041	5.359000	0.66074	2.740000	0.93945	0.313000	0.20887	GAA		0.358	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		16	25	0	0	0	1	0	16	25				
BAK1	578	broad.mit.edu	37	6	33543100	33543100	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:33543100C>T	ENST00000374467.3	-	4	573	c.325G>A	c.(325-327)Gag>Aag	p.E109K	BAK1_ENST00000360661.5_Missense_Mutation_p.E109K|BAK1_ENST00000442998.2_Missense_Mutation_p.E109K	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	109					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGAAGTACTCATAGGCATTC	0.572																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(325-327)Gag>Aag		BCL2-antagonist/killer 1							169.0	133.0	145.0					6																	33543100		2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543100C>T	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.325G>A	6.37:g.33543100C>T	ENSP00000363591:p.Glu109Lys					BAK1_ENST00000442998.2_Missense_Mutation_p.E109K|BAK1_ENST00000360661.5_Missense_Mutation_p.E109K	p.E109K	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	573	-			109					C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.325G>A	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444298	0.43429	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.05081	3.5;3.5;3.5	4.26	1.28	0.21552	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.459125	0.20211	N	0.096894	T	0.02807	0.0084	L	0.61387	1.9	0.09310	N	0.999999	P;P	0.48294	0.908;0.681	B;B	0.43916	0.436;0.179	T	0.43442	-0.9391	10	0.25106	T	0.35	-9.7912	7.3725	0.26810	0.0:0.5885:0.3182:0.0933	.	109;109	B4E0L2;Q16611	.;BAK_HUMAN	K	89;109;109;109	ENSP00000363591:E109K;ENSP00000391258:E109K;ENSP00000353878:E109K	ENSP00000353878:E109K	E	-	1	0	BAK1	33651078	0.038000	0.19896	0.008000	0.14137	0.941000	0.58515	0.522000	0.22909	0.419000	0.25927	0.555000	0.69702	GAG		0.572	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		9	58	0	0	0	1	0	9	58				
DNM1P47	100216544	broad.mit.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697									DNM1 pseudogene 47																		TCAGAGCTGCTGTCCAACCTG	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294651T>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294651T>G														0	2697	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	26	0	0	0	1	0	3	26				
ALG11	440138	broad.mit.edu	37	13	52598374	52598374	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:52598374G>A	ENST00000521508.1	+	3	513	c.508G>A	c.(508-510)Gat>Aat	p.D170N	ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	170					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTGTGTTCCTGATGTTTACAT	0.423																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(508-510)Gat>Aat		ALG11, alpha-1,2-mannosyltransferase							194.0	177.0	183.0					13																	52598374		2203	4300	6503	SO:0001583	missense	440138							g.chr13:52598374G>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.508G>A	13.37:g.52598374G>A	ENSP00000430236:p.Asp170Asn					ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	p.D170N	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	3	513	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	c.508G>A	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935453	0.73442	.	.	ENSG00000253710	ENST00000521508	D	0.88896	-2.44	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	D	0.95723	0.8609	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.95501	0.8577	10	0.62326	D	0.03	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	170	Q2TAA5	ALG11_HUMAN	N	170	ENSP00000430236:D170N	ENSP00000430236:D170N	D	+	1	0	ALG11	51496375	1.000000	0.71417	0.955000	0.39395	0.735000	0.41995	9.411000	0.97342	2.820000	0.97059	0.650000	0.86243	GAT		0.423	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		29	106	0	0	0	1	0	29	106				
NUP88	4927	broad.mit.edu	37	17	5319905	5319905	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:5319905A>T	ENST00000573584.1	-	2	904	c.395T>A	c.(394-396)aTg>aAg	p.M132K		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	132					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTCTAATACCATAAGTCCTTT	0.338																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(394-396)aTg>aAg		nucleoporin 88kDa							120.0	117.0	118.0					17																	5319905		2203	4298	6501	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5319905A>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.395T>A	17.37:g.5319905A>T	ENSP00000458954:p.Met132Lys						p.M132K	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			2	904	-			132					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.395T>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489013	0.44249	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	6.17	-0.269	0.12930	.	0.221115	0.44902	D	0.000401	T	0.46795	0.1411	L	0.51422	1.61	0.35865	D	0.827813	B;B;B	0.23185	0.028;0.081;0.081	B;B;B	0.25506	0.033;0.061;0.037	T	0.44922	-0.9296	9	0.27785	T	0.31	-3.1357	10.6835	0.45828	0.6203:0.0:0.3797:0.0	.	132;1;132	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	K	132;1	.	ENSP00000225696:M132K	M	-	2	0	NUP88	5260629	0.995000	0.38212	0.986000	0.45419	0.788000	0.44548	0.519000	0.22862	-0.015000	0.14150	-0.250000	0.11733	ATG		0.338	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		9	37	0	0	0	1	0	9	37				
NFAT5	10725	broad.mit.edu	37	16	69726982	69726982	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69726982C>G	ENST00000354436.2	+	12	3518	c.3200C>G	c.(3199-3201)tCa>tGa	p.S1067*	NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S1084*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S991*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S991*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.S991*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S1085*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1067					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTTCTCATTCACAGGCCCAA	0.413																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2971-2973)tCa>tGa		nuclear factor of activated T-cells 5, tonicity-responsive							99.0	98.0	99.0					16																	69726982		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726982C>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3200C>G	16.37:g.69726982C>G	ENSP00000346420:p.Ser1067*					NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S1084*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.S1067*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S991*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S1085*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S991*	p.S991*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4524	+			1067					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.2972C>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	40	8.375234	0.98784	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.97	5.97	0.96955	.	0.331672	0.29558	N	0.011808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.2168	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	1085;1084;991;1067;991	.	ENSP00000338806:S991X	S	+	2	0	NFAT5	68284483	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.790000	0.69038	2.836000	0.97738	0.655000	0.94253	TCA		0.413	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		37	133	0	0	0	1	0	37	133				
ARHGAP36	158763	broad.mit.edu	37	X	130220374	130220374	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:130220374C>G	ENST00000276211.5	+	10	1698	c.1353C>G	c.(1351-1353)atC>atG	p.I451M	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I439M|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I315M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	451					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGATTTTATCAGACGCAGGA	0.478																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1351-1353)atC>atG		Rho GTPase activating protein 36							103.0	98.0	99.0					X																	130220374		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220374C>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1353C>G	X.37:g.130220374C>G	ENSP00000276211:p.Ile451Met					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I315M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I439M	p.I451M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1698	+			451					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1353C>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614779	0.46631	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10763	2.84;2.84;2.86;2.85	4.69	3.82	0.43975	.	0.000000	0.46145	D	0.000313	T	0.12390	0.0301	N	0.08118	0	0.31768	N	0.632515	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.80764	0.994;0.994;0.986	T	0.03394	-1.1041	10	0.62326	D	0.03	.	6.8707	0.24119	0.0:0.876:0.0:0.124	.	420;439;451	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	M	451;439;420;315	ENSP00000276211:I451M;ENSP00000359960:I439M;ENSP00000408515:I420M;ENSP00000359959:I315M	ENSP00000276211:I451M	I	+	3	3	ARHGAP36	130048055	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.955000	0.29188	2.291000	0.77112	0.600000	0.82982	ATC		0.478	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		24	28	0	0	0	1	0	24	28				
MAMDC4	158056	broad.mit.edu	37	9	139749068	139749068	+	Missense_Mutation	SNP	G	G	A	rs142114032		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:139749068G>A	ENST00000317446.2	+	8	924	c.874G>A	c.(874-876)Gct>Act	p.A292T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.A292T	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GAACCACCGCGCTGGTGGTCC	0.706																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(874-876)Gct>Act		MAM domain containing 4							21.0	23.0	23.0					9																	139749068		2183	4292	6475	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139749068G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.874G>A	9.37:g.139749068G>A	ENSP00000319388:p.Ala292Thr					MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.A292T	p.A292T			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	8	924	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	292			MAM 2.			Missense_Mutation	SNP	ENST00000317446.2	37	c.874G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.40|11.40	1.627930|1.627930	0.28978|0.28978	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02177|.	4.41;4.41|.	4.61|4.61	-6.01|-6.01	0.02199|0.02199	.|.	1.501840|.	0.04250|.	N|.	0.338423|.	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.25485|0.25485	0.75|0.75	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.10450|.	0.005|.	T|T	0.38929|0.38929	-0.9638|-0.9638	10|6	0.29301|0.52906	T|T	0.29|0.07	-1.7682|-1.7682	4.775|4.775	0.13175|0.13175	0.6202:0.1083:0.152:0.1195|0.6202:0.1083:0.152:0.1195	.|.	292|.	Q6UXC1-2|.	.|.	T|H	292|273	ENSP00000319388:A292T;ENSP00000411339:A292T|.	ENSP00000319388:A292T|ENSP00000400009:R273H	A|R	+|+	1|2	0|0	MAMDC4|MAMDC4	138868889|138868889	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.867000|-0.867000	0.04241|0.04241	-0.874000|-0.874000	0.04027|0.04027	-0.258000|-0.258000	0.10820|0.10820	GCT|CGC		0.706	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		8	18	0	0	0	1	0	8	18				
DHX57	90957	broad.mit.edu	37	2	39088439	39088439	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:39088439G>A	ENST00000295373.6	-	5	1239	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	371							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAATGCCACGAGCGGAGCTT	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1111-1113)ctC>ctT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							52.0	50.0	51.0					2																	39088439		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088439G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1113C>T	2.37:g.39088439G>A						DHX57_ENST00000479345.2_5'UTR	p.L371L	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			5	1239	-		all_hematologic(82;0.248)	371					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.1113C>T	CCDS1800.1																																																																																				0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		19	62	0	0	0	1	0	19	62				
SLC8A3	6547	broad.mit.edu	37	14	70633834	70633834	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:70633834C>G	ENST00000381269.2	-	2	2059	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E436Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E436Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E436Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	436	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAACCATCCTCTGTTTTGTAG	0.522																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1306-1308)Gag>Cag		solute carrier family 8 (sodium/calcium exchanger), member 3							139.0	129.0	132.0					14																	70633834		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633834C>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1306G>C	14.37:g.70633834C>G	ENSP00000370669:p.Glu436Gln					SLC8A3_ENST00000534137.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E436Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E436Q	p.E436Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2059	-			436			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1306G>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295455	0.60086	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.58969	1.84	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.996;0.998;0.994;0.994	T	0.42682	-0.9437	10	0.37606	T	0.19	.	19.8887	0.96921	0.0:1.0:0.0:0.0	.	436;436;436;436	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	436	ENSP00000349392:E436Q;ENSP00000370669:E436Q;ENSP00000350560:E436Q;ENSP00000436688:E436Q;ENSP00000433531:E436Q	ENSP00000349392:E436Q	E	-	1	0	SLC8A3	69703587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.686000	0.91538	0.643000	0.83706	GAG		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			32	144	0	0	0	1	0	32	144				
SERPINE1	5054	broad.mit.edu	37	7	100775249	100775252	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:100775249_100775252delCTCC	ENST00000223095.4	+	4	756_759	c.599_602delCTCC	c.(598-603)actcccfs	p.TP200fs	SERPINE1_ENST00000445463.2_Frame_Shift_Del_p.TP185fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	200					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGTGGAAGACTCCCTTCCCCGAC	0.564																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(598-603)acfs		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775249_100775252delCTCC	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.599_602delCTCC	7.37:g.100775249_100775252delCTCC	ENSP00000223095:p.Thr200fs					SERPINE1_ENST00000445463.2_Frame_Shift_Del_p.TP185fs	p.TP200fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	756_759	+	Lung NSC(181;0.136)|all_lung(186;0.182)		200					B7Z4S0|F8WD53	Frame_Shift_Del	DEL	ENST00000223095.4	37	c.599_602delCTCC	CCDS5711.1																																																																																				0.564	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		21	215						21	215	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96515000	+	lincRNA	DEL	AA	AA	-	rs67317023|rs149392521		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:96514999_96515000delAA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaaa	0.371																																						ENST00000527528.1																			0																																																			0							g.chr11:96514999_96515000delAA																													11.37:g.96515009_96515010delAA														0	158	+									RNA	DEL	ENST00000527528.1	37																																																																																						0.371	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			4	9						4	9	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42302338	42302338	+	Frame_Shift_Del	DEL	A	A	-	rs28736629|rs59057790|rs547723807	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:42302338delA	ENST00000413860.2	-	1	107	c.108delT	c.(106-108)ggtfs	p.G38fs	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	48	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.A39fs*19(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGCCCCCCCACCCCGGGCCT	0.592																																						ENST00000413860.2																			1	Deletion - Frameshift(1)	p.A39fs*19(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(106-108)ggfs		phospholipase A2, group IVE							53.0	67.0	62.0					15																	42302338		1855	4078	5933	SO:0001589	frameshift_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42302338delA		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.108delT	15.37:g.42302338delA	ENSP00000413897:p.Gly38fs					PLA2G4E_ENST00000399518.3_Intron	p.G38fs			Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	1	107	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	0			C2.		Q6ZSC0	Frame_Shift_Del	DEL	ENST00000413860.2	37	c.108delT																																																																																					0.592	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding		NM_198442		17	25						17	25	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			100216544							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	5						4	5	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			653390							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		7	31						7	31	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-	rs148280092		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:15436915delG	ENST00000428809.1	+	0	177				AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							CCCCTGGGACGGGGGCCTTGG	0.687																																						ENST00000428809.1																			0																																																			391269							g.chr21:15436915delG																													21.37:g.15436915delG														0	177	+									RNA	DEL	ENST00000428809.1	37																																																																																						0.687	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			3	4						3	4	---	---	---	---
