#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ARHGAP17	55114	broad.mit.edu	37	16	24953431	24953431	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:24953431G>A	ENST00000289968.6	-	16	1436	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P456L|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	456					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTGGTGAGAGGTACAAATGC	0.507																																						uc002dnb.3																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1366-1368)cCt>cTt		Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.							100.0	100.0	100.0					16																	24953431		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24953431G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1367C>T	16.37:g.24953431G>A	ENSP00000289968:p.Pro456Leu		Somatic				ARHGAP17_uc002dmz.3_5'Flank|ARHGAP17_uc002dna.3_Missense_Mutation_p.P183L|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P456L|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P277L	p.P456L	NM_001006634	NP_001006635	WXS	Illumina GAIIx	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	15	1460	-			456					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1367C>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849797	0.51270	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.23950	1.88;1.97	5.85	3.8	0.43715	.	0.394507	0.18892	N	0.128275	T	0.13500	0.0327	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.003	T	0.06716	-1.0811	10	0.35671	T	0.21	.	9.2866	0.37760	0.085:0.1592:0.7558:0.0	.	456;456	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	L	456	ENSP00000289968:P456L;ENSP00000303130:P456L	ENSP00000289968:P456L	P	-	2	0	ARHGAP17	24860932	0.984000	0.35163	0.997000	0.53966	0.984000	0.73092	1.764000	0.38471	2.773000	0.95371	0.655000	0.94253	CCT		0.507	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		3	119	0	0	0	1	0	3	119				
KIAA1683	80726	broad.mit.edu	37	19	18378325	18378325	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18378325G>A	ENST00000600328.3	-	3	218	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	KIAA1683_ENST00000600359.3_5'UTR|KIAA1683_ENST00000392413.4_Silent_p.L9L			Q9H0B3	K1683_HUMAN	KIAA1683	9						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCGGACAGGTCAGCTCTG	0.667																																						uc010ebn.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(25-27)Ctg>Ttg		Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.							53.0	60.0	57.0					19																	18378325		2201	4294	6495	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18378325G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.25C>T	19.37:g.18378325G>A			Somatic				KIAA1683_uc002nin.2_Silent_p.L9L|KIAA1683_uc010xqe.1_5'UTR	p.L9L	NM_001145304	NP_001138776	WXS	Illumina GAIIx	Phase_I	Q9H0B3	K1683_HUMAN			2	241	-			9					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.25C>T	CCDS32958.1																																																																																				0.667	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			3	101	0	0	0	1	0	3	101				
ZNF169	169841	broad.mit.edu	37	9	97063337	97063337	+	Silent	SNP	G	G	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:97063337G>T	ENST00000395395.2	+	5	1587	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTTTAAGTCGCTCCTCACCC	0.547																																						uc004aum.1																			0		p.S499L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1495-1497)tcG>tcT		Homo sapiens zinc finger protein 169 (ZNF169), mRNA.							92.0	79.0	84.0					9																	97063337		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063337G>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1497G>T	9.37:g.97063337G>T			Somatic				ZNF169_uc022bki.1_Silent_p.S500S	p.S499S	NM_194320	NP_919301	WXS	Illumina GAIIx	Phase_I	Q14929	ZN169_HUMAN			4	1602	+		Acute lymphoblastic leukemia(62;0.136)	499					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1497G>T	CCDS6709.2																																																																																				0.547	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		47	46	0	0	0	1	0	47	46				
SOWAHB	345079	broad.mit.edu	37	4	77816864	77816864	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr4:77816864A>T	ENST00000334306.2	-	1	2138	c.2139T>A	c.(2137-2139)agT>agA	p.S713R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	713																	CAGAGGTATTACTGGTTAGAT	0.522																																						uc003hki.3																			0											c.(2137-2139)agT>agA		Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.							212.0	234.0	227.0					4																	77816864		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77816864A>T		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.2139T>A	4.37:g.77816864A>T	ENSP00000334879:p.Ser713Arg		Somatic					p.S713R	NM_001029870	NP_001025041	WXS	Illumina GAIIx	Phase_I	A6NEL2	ANR56_HUMAN			0	2139	-			713					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.2139T>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352712	0.41700	.	.	ENSG00000186212	ENST00000334306	T	0.32988	1.43	5.5	-1.31	0.09230	Ankyrin repeat-containing domain (2);	0.159972	0.40064	U	0.001192	T	0.16769	0.0403	L	0.28504	0.86	0.09310	N	0.999996	B	0.21688	0.059	B	0.24541	0.054	T	0.15435	-1.0437	10	0.27082	T	0.32	-10.4786	5.7866	0.18336	0.4969:0.2445:0.2586:0.0	.	713	A6NEL2	ANR56_HUMAN	R	713	ENSP00000334879:S713R	ENSP00000334879:S713R	S	-	3	2	ANKRD56	78035888	0.000000	0.05858	0.990000	0.47175	0.487000	0.33371	-0.217000	0.09253	-0.078000	0.12730	-0.313000	0.08912	AGT		0.522	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		7	506	0	0	0	1	0	7	506				
FAM129A	116496	broad.mit.edu	37	1	184792832	184792832	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr1:184792832C>G	ENST00000367511.3	-	7	955	c.762G>C	c.(760-762)caG>caC	p.Q254H	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_Intron	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	254					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCAGGTCTGTCTGAAGAGTGG	0.512																																						uc001gra.3																			0		p.Q254P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(760-762)caG>caC		Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.							132.0	117.0	122.0					1																	184792832		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184792832C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.762G>C	1.37:g.184792832C>G	ENSP00000356481:p.Gln254His		Somatic				FAM129A_uc001grb.1_Intron|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.Q52H	p.Q254H	NM_052966	NP_443198	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			6	956	-			254					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.762G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396793	0.83120	.	.	ENSG00000135842	ENST00000367511	T	0.11930	2.73	5.76	4.85	0.62838	.	0.118599	0.64402	D	0.000017	T	0.33469	0.0864	M	0.64997	1.995	0.52099	D	0.999947	D	0.89917	1.0	D	0.87578	0.998	T	0.02950	-1.1090	10	0.48119	T	0.1	-25.5836	13.0894	0.59158	0.0:0.9262:0.0:0.0738	.	254	Q9BZQ8	NIBAN_HUMAN	H	254	ENSP00000356481:Q254H	ENSP00000356481:Q254H	Q	-	3	2	FAM129A	183059455	1.000000	0.71417	0.904000	0.35570	0.963000	0.63663	3.052000	0.49893	1.437000	0.47472	0.655000	0.94253	CAG		0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			3	109	0	0	0	1	0	3	109				
MYO18B	84700	broad.mit.edu	37	22	26423340	26423340	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr22:26423340G>A	ENST00000407587.2	+	43	7572	c.7403G>A	c.(7402-7404)gGt>gAt	p.G2468D	MYO18B_ENST00000536101.1_Missense_Mutation_p.G2467D|MYO18B_ENST00000335473.7_Missense_Mutation_p.G2467D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2467						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCAAGACGGTTCACAGCGT	0.542																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7399-7401)gGt>gAt		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							94.0	98.0	97.0					22																	26423340		2011	4156	6167	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	g.chr22:26423340G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7403G>A	22.37:g.26423340G>A	ENSP00000386096:p.Gly2468Asp		Somatic				MYO18B_uc003aca.1_Missense_Mutation_p.G2348D|MYO18B_uc010guy.1_Missense_Mutation_p.G2349D|MYO18B_uc010guz.1_Missense_Mutation_p.G2347D|MYO18B_uc011aka.1_Missense_Mutation_p.G1621D|MYO18B_uc011akb.1_Missense_Mutation_p.G1980D|MYO18B_uc010gva.1_Missense_Mutation_p.G450D|MYO18B_uc010gvb.1_Non-coding_Transcript	p.G2467D	NM_032608	NP_115997	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			42	7650	+			2467					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7400G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.712|7.712	0.695401|0.695401	0.15106|0.15106	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87887|.	-2.29;-2.29;-2.31|.	5.17|5.17	1.76|1.76	0.24704|0.24704	.|.	1.366540|.	0.04730|.	N|.	0.421043|.	T|T	0.23014|0.23014	0.0556|0.0556	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.15141|.	0.003;0.007;0.007;0.003;0.012|.	B;B;B;B;B|.	0.18561|.	0.006;0.01;0.01;0.004;0.022|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.66056|.	D|.	0.02|.	.|.	7.4188|7.4188	0.27061|0.27061	0.1585:0.1367:0.7049:0.0|0.1585:0.1367:0.7049:0.0	.|.	1980;2469;2467;2468;2467|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2467;2467;2468|417	ENSP00000441229:G2467D;ENSP00000334563:G2467D;ENSP00000386096:G2468D|.	ENSP00000334563:G2467D|.	G|V	+|+	2|1	0|0	MYO18B|MYO18B	24753340|24753340	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.726000|0.726000	0.25984|0.25984	0.524000|0.524000	0.28502|0.28502	0.561000|0.561000	0.74099|0.74099	GGT|GTT		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	94	0	0	0	1	0	4	94				
EGFLAM	133584	broad.mit.edu	37	5	38448474	38448474	+	Silent	SNP	T	T	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr5:38448474T>C	ENST00000354891.3	+	19	2906	c.2560T>C	c.(2560-2562)Ttg>Ctg	p.L854L	EGFLAM_ENST00000336740.6_Silent_p.L612L|EGFLAM_ENST00000397202.2_Silent_p.L212L|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000322350.5_Silent_p.L846L|EGFLAM_ENST00000506135.1_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	854	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCAGATATCTTGAAGAGGTA	0.438																																					Colon(62;485 1295 3347 17454)	uc003jlc.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2560-2562)Ttg>Ctg		Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.							149.0	147.0	147.0					5																	38448474		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38448474T>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2560T>C	5.37:g.38448474T>C			Somatic				EGFLAM_uc003jlb.2_Silent_p.L846L|EGFLAM_uc003jle.2_Silent_p.L612L|EGFLAM_uc003jlf.2_Silent_p.L212L|EGFLAM_uc003jlg.2_5'UTR	p.L854L	NM_001205301	NP_001192230	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			18	2906	+	all_lung(31;0.000385)		854			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2560T>C	CCDS56363.1																																																																																				0.438	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	166	0	0	0	1	0	4	166				
CRAT	1384	broad.mit.edu	37	9	131866547	131866547	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:131866547G>A	ENST00000318080.2	-	3	624	c.330C>T	c.(328-330)taC>taT	p.Y110Y	CRAT_ENST00000464290.1_Intron|AL158151.2_ENST00000408594.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	110					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGGCTGGCGGTACTGGAGGT	0.637																																						uc004bxh.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(328-330)taC>taT		Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)						48.0	37.0	41.0					9																	131866547		2202	4300	6502	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131866547G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.330C>T	9.37:g.131866547G>A			Somatic				CRAT_uc004bxk.4_Silent_p.Y89Y	p.Y110Y	NM_000755	NP_000746	WXS	Illumina GAIIx	Phase_I	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	2	612	-			110					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.330C>T	CCDS6919.1																																																																																				0.637	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			3	35	0	0	0	1	0	3	35				
SYCP2L	221711	broad.mit.edu	37	6	10894117	10894117	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr6:10894117G>A	ENST00000283141.6	+	3	392	c.96G>A	c.(94-96)acG>acA	p.T32T	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	32						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACTTATTACGGATGCATTCC	0.299																																						uc003mzo.3																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(94-96)acG>acA		Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.							34.0	33.0	33.0					6																	10894117		1797	4059	5856	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10894117G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.96G>A	6.37:g.10894117G>A			Somatic				SYCP2L_uc011dim.1_Non-coding_Transcript	p.T32T	NM_001040274	NP_001035364	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		2	392	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	32					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.96G>A	CCDS43423.1																																																																																				0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	53	0	0	0	1	0	4	53				
COG5	10466	broad.mit.edu	37	7	106851577	106851577	+	Silent	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:106851577C>A	ENST00000347053.3	-	19	2342	c.2292G>T	c.(2290-2292)acG>acT	p.T764T	COG5_ENST00000297135.3_Silent_p.T785T|COG5_ENST00000393603.2_Silent_p.T785T	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	764					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CGGGTGCTCTCGTGAACAAAA	0.468																																						uc003vec.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(2353-2355)acG>acT		Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.							99.0	93.0	95.0					7																	106851577		2203	4300	6503	SO:0001819	synonymous_variant	10466				intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding	g.chr7:106851577C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2292G>T	7.37:g.106851577C>A			Somatic				COG5_uc003ved.2_Silent_p.T764T|COG5_uc003vee.2_Silent_p.T785T	p.T785T	NM_006348	NP_006339	WXS	Illumina GAIIx	Phase_I	Q9UP83	COG5_HUMAN			19	2880	-			764					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	c.2355G>T	CCDS5743.1																																																																																				0.468	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			3	109	0	0	0	1	0	3	109				
MLH3	27030	broad.mit.edu	37	14	75514649	75514649	+	Silent	SNP	T	T	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:75514649T>C	ENST00000556740.1	-	1	1745	c.1710A>G	c.(1708-1710)acA>acG	p.T570T	MLH3_ENST00000355774.2_Silent_p.T570T|MLH3_ENST00000238662.7_Silent_p.T570T|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Silent_p.T570T			Q9UHC1	MLH3_HUMAN	mutL homolog 3	570					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCCCATAATGTTGTTGCAA	0.363								Mismatch excision repair (MMR)																														uc001xrd.1																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1708-1710)acA>acG	Mismatch excision repair (MMR)	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.							127.0	128.0	128.0					14																	75514649		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514649T>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1710A>G	14.37:g.75514649T>C			Somatic				MLH3_uc001xre.1_Silent_p.T570T|MLH3_uc010tuy.1_Non-coding_Transcript	p.T570T	NM_001040108	NP_001035197	WXS	Illumina GAIIx	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	1	1926	-			570					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.1710A>G	CCDS32123.1																																																																																				0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		3	96	0	0	0	1	0	3	96				
TRIB3	57761	broad.mit.edu	37	20	377081	377081	+	Missense_Mutation	SNP	G	G	A	rs140801463		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr20:377081G>A	ENST00000217233.3	+	4	1377	c.824G>A	c.(823-825)cGc>cAc	p.R275H	TRIB3_ENST00000422053.2_Missense_Mutation_p.R302H	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AAGATCCGCCGCGGGGCCTAC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		17981	0.0		0.001	False		,,,				2504	0.0				Melanoma(101;421 2374 19538)	uc002wdn.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(904-906)cGc>cAc		Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.		G	HIS/ARG	0,4406		0,0,2203	50.0	50.0	50.0		824	5.2	0.7	20	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIB3	NM_021158.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	275/359	377081	1,13005	2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377081G>A	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.824G>A	20.37:g.377081G>A	ENSP00000217233:p.Arg275His		Somatic				TRIB3_uc002wdm.3_Missense_Mutation_p.R275H	p.R302H	NM_021158	NP_066981	WXS	Illumina GAIIx	Phase_I	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1222	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	275			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.905G>A	CCDS12997.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.40	3.614896	0.66672	0.0	1.16E-4	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.66099	-0.19;-0.19	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000609	T	0.68430	0.3000	M	0.64170	1.965	0.41503	D	0.988292	D;D	0.61697	0.99;0.99	P;P	0.49999	0.628;0.628	T	0.72921	-0.4145	10	0.66056	D	0.02	-16.6532	16.343	0.83101	0.0:0.0:1.0:0.0	.	302;275	B4DMM9;Q96RU7	.;TRIB3_HUMAN	H	275;302	ENSP00000217233:R275H;ENSP00000415416:R302H	ENSP00000217233:R275H	R	+	2	0	TRIB3	325081	0.995000	0.38212	0.712000	0.30502	0.502000	0.33828	5.601000	0.67606	2.716000	0.92895	0.655000	0.94253	CGC		0.692	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		5	97	0	0	0	1	0	5	97				
TMEM67	91147	broad.mit.edu	37	8	94809588	94809588	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:94809588C>A	ENST00000453321.3	+	20	2048	c.1990C>A	c.(1990-1992)Cct>Act	p.P664T	TMEM67_ENST00000409623.3_Missense_Mutation_p.P583T	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	664					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGCCACTGTTCCTGTAAGCAT	0.373																																						uc011lgk.2																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1990-1992)Cct>Act		Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.							162.0	152.0	156.0					8																	94809588		2203	4300	6503	SO:0001583	missense	91147				ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94809588C>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1990C>A	8.37:g.94809588C>A	ENSP00000389998:p.Pro664Thr		Somatic				TMEM67_uc010maw.2_Missense_Mutation_p.P370T|TMEM67_uc003yga.4_Missense_Mutation_p.P583T|TMEM67_uc011lgl.2_Missense_Mutation_p.P63T	p.P664T	NM_153704	NP_714915	WXS	Illumina GAIIx	Phase_I	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		19	2061	+	Breast(36;4.14e-07)		664					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1990C>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741008	0.89573	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97505	-4.41;-4.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.991;0.968	D	0.99129	1.0852	10	0.87932	D	0	-15.9077	19.6576	0.95849	0.0:1.0:0.0:0.0	.	664;583;583	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	T	664;583	ENSP00000389998:P664T;ENSP00000386966:P583T	ENSP00000314488:P654T	P	+	1	0	TMEM67	94878764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.651000	0.90000	0.650000	0.86243	CCT		0.373	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		46	98	0	0	0	1	0	46	98				
MYH7	4625	broad.mit.edu	37	14	23885503	23885503	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23885503C>T	ENST00000355349.3	-	34	4825	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1555			E -> K (in CMH1). {ECO:0000269|PubMed:11968089}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTTGCCCTCCTCGTGCTCC	0.627																																						uc001wjx.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM020953	MYH7	M		c.(4663-4665)Gag>Aag		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							86.0	87.0	87.0					14																	23885503		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885503C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4663G>A	14.37:g.23885503C>T	ENSP00000347507:p.Glu1555Lys		Somatic					p.E1555K	NM_000257	NP_000248	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	33	4769	-	all_cancers(95;2.54e-05)		1555		E -> K (in CMH1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4663G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936839	0.73557	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84730	-1.89	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.90614	0.7057	M	0.90198	3.095	0.58432	D	0.999999	P	0.42649	0.786	P	0.46585	0.521	D	0.92969	0.6396	9	0.87932	D	0	.	17.8682	0.88803	0.0:1.0:0.0:0.0	.	1555	P12883	MYH7_HUMAN	K	1555;1560	ENSP00000347507:E1555K	ENSP00000347507:E1555K	E	-	1	0	MYH7	22955343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.537000	0.85549	0.655000	0.94253	GAG		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	217	0	0	0	1	0	8	217				
FKBP7	51661	broad.mit.edu	37	2	179341923	179341923	+	Missense_Mutation	SNP	C	C	G	rs533896380		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:179341923C>G	ENST00000424785.2	-	2	297	c.239G>C	c.(238-240)gGc>gCc	p.G80A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.G80A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	80	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTGGGGTGGCCTTCATTTTG	0.383																																					Melanoma(26;682 927 5286 17599 46613)	uc002umk.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(238-240)gGc>gCc		Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.							76.0	77.0	76.0					2																	179341923		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341923C>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.239G>C	2.37:g.179341923C>G	ENSP00000413152:p.Gly80Ala		Somatic				MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.G80A|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.G76A	p.G80A	NM_181342	NP_851939	WXS	Illumina GAIIx	Phase_I	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	368	-			80			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.239G>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237567	0.79800	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.85411	-1.98;-1.98	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.995;0.999;0.91	D	0.92107	0.5693	10	0.54805	T	0.06	-0.0426	18.983	0.92761	0.0:1.0:0.0:0.0	.	80;80;80	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	80	ENSP00000413152:G80A;ENSP00000415486:G80A	ENSP00000233092:G80A	G	-	2	0	FKBP7	179050169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.739000	0.55075	2.504000	0.84457	0.563000	0.77884	GGC		0.383	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		7	85	0	0	0	1	0	7	85				
FKBP8	23770	broad.mit.edu	37	19	18650451	18650451	+	Silent	SNP	G	G	A	rs367858174	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18650451G>A	ENST00000596558.2	-	3	481	c.372C>T	c.(370-372)acC>acT	p.T124T	FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Silent_p.T124T|FKBP8_ENST00000608443.1_Silent_p.T124T|FKBP8_ENST00000453489.2_Silent_p.T153T|FKBP8_ENST00000222308.4_Silent_p.T124T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	124	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCAGATGTACGGTGACCACCT	0.652																																						uc010xqi.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(457-459)acC>acT		Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.							140.0	146.0	144.0					19																	18650451		2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18650451G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.372C>T	19.37:g.18650451G>A			Somatic				FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc002njk.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron	p.T153T	NM_012181	NP_036313	WXS	Illumina GAIIx	Phase_I	Q14318	FKBP8_HUMAN			2	482	-			124			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.459C>T																																																																																					0.652	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		4	202	0	0	0	1	0	4	202				
EFS	10278	broad.mit.edu	37	14	23826572	23826572	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23826572C>A	ENST00000216733.3	-	6	2156	c.1549G>T	c.(1549-1551)Gcc>Tcc	p.A517S	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.A424S|EFS_ENST00000429593.2_Missense_Mutation_p.A348S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	517					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGCACAGTGGCCCGCAATGCC	0.647																																						uc001wjo.3																			0		p.R516Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1549-1551)Gcc>Tcc		Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.							42.0	44.0	44.0					14																	23826572		2203	4300	6503	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826572C>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1549G>T	14.37:g.23826572C>A	ENSP00000216733:p.Ala517Ser		Somatic				EFS_uc001wjp.3_Missense_Mutation_p.A424S|EFS_uc010tnm.2_Missense_Mutation_p.A348S	p.A517S	NM_005864	NP_005855	WXS	Illumina GAIIx	Phase_I	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	5	2157	-	all_cancers(95;7.12e-06)		517					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1549G>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173336	0.38413	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.22336	1.96;1.96;1.96	4.69	2.85	0.33270	CAS family, DUF3513 (1);	0.370951	0.26609	N	0.023433	T	0.18635	0.0447	L	0.55103	1.725	0.32616	N	0.524006	B;B;B	0.30793	0.295;0.013;0.146	B;B;B	0.32624	0.149;0.015;0.074	T	0.18085	-1.0348	10	0.21014	T	0.42	-9.2853	8.3912	0.32528	0.1543:0.7627:0.0:0.083	.	348;424;517	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	S	517;424;348	ENSP00000216733:A517S;ENSP00000340607:A424S;ENSP00000416684:A348S	ENSP00000216733:A517S	A	-	1	0	EFS	22896412	0.999000	0.42202	0.995000	0.50966	0.948000	0.59901	1.196000	0.32198	0.569000	0.29329	0.655000	0.94253	GCC		0.647	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			11	81	0	0	0	1	0	11	81				
DSCAM	1826	broad.mit.edu	37	21	41414505	41414505	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr21:41414505G>A	ENST00000400454.1	-	32	5956	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1827					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGTGCCTCAGTTGCTCTTCC	0.537																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5479-5481)Ctg>Ttg		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							192.0	182.0	186.0					21																	41414505		2150	4262	6412	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414505G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5479C>T	21.37:g.41414505G>A			Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.L1827L	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			31	5931	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1827					O60468	Silent	SNP	ENST00000400454.1	37	c.5479C>T	CCDS42929.1																																																																																				0.537	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		4	136	0	0	0	1	0	4	136				
DSG4	147409	broad.mit.edu	37	18	28986167	28986167	+	Silent	SNP	T	T	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr18:28986167T>C	ENST00000308128.4	+	12	1899	c.1764T>C	c.(1762-1764)gaT>gaC	p.D588D	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Silent_p.D588D	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	588					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGCCTGTGATTGCGATGACA	0.483																																						uc002kwr.2																			0		p.C587S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1762-1764)gaT>gaC		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							113.0	108.0	110.0					18																	28986167		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986167T>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1764T>C	18.37:g.28986167T>C			Somatic				DSG4_uc002kwq.2_Silent_p.D588D	p.D588D	NM_001134453	NP_001127925	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1899	+			588					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1764T>C	CCDS11897.1																																																																																				0.483	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		10	99	0	0	0	1	0	10	99				
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGCAGGGGGAGTGGCAAGAG	0.587																																						uc002tsn.2																			0											c.(223-225)Agt>Ggt		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							127.0	125.0	126.0					2																	131976198		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976198A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.223A>G	2.37:g.131976198A>G	ENSP00000439189:p.Ser75Gly		Somatic				PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.S75G	NM_001083538	NP_001077007	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			0	275	+			75					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.223A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.293	0.422244	0.11928	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79554	-1.28;1.37	.	.	.	.	.	.	.	.	T	0.69584	0.3127	L	0.29908	0.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.62006	-0.6945	7	0.87932	D	0	.	.	.	.	.	75	Q6S8J3	POTEE_HUMAN	G	75	ENSP00000439189:S75G;ENSP00000443049:S75G	ENSP00000439189:S75G	S	+	1	0	AC131180.1	131692668	0.046000	0.20272	0.039000	0.18376	0.062000	0.15995	0.170000	0.16663	0.138000	0.18790	0.136000	0.15936	AGT		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		3	196	0	0	0	1	0	3	196				
ERBB4	2066	broad.mit.edu	37	2	212248348	212248348	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:212248348C>A	ENST00000342788.4	-	28	4229	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ERBB4_ENST00000402597.1_Missense_Mutation_p.V1297L|ERBB4_ENST00000436443.1_Missense_Mutation_p.V1291L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1307					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCTTACACCACAGTATTCCGG	0.537										TSP Lung(8;0.080)																												uc002veg.1																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3919-3921)Gtg>Ttg		Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.							61.0	63.0	62.0					2																	212248348		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248348C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3919G>T	2.37:g.212248348C>A	ENSP00000342235:p.Val1307Leu	TSP Lung(8;0.080)	Somatic				ERBB4_uc002veh.1_Missense_Mutation_p.V1291L|ERBB4_uc010zji.1_Missense_Mutation_p.V1297L|ERBB4_uc010zjj.1_Missense_Mutation_p.V1281L	p.V1307L	NM_005235	NP_005226	WXS	Illumina GAIIx	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	4017	-		Renal(323;0.06)|Lung NSC(271;0.197)	1307					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3919G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331053	0.81690	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.80214	-1.33;-1.35;-1.34	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	D	0.84270	0.5435	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.984	D;D;D;D	0.75484	0.98;0.986;0.98;0.956	D	0.86232	0.1638	10	0.87932	D	0	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	1281;1297;1291;1307	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1307;1291;1297	ENSP00000342235:V1307L;ENSP00000403204:V1291L;ENSP00000385565:V1297L	ENSP00000342235:V1307L	V	-	1	0	ERBB4	211956593	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.320000	0.79064	2.777000	0.95525	0.557000	0.71058	GTG		0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		3	100	0	0	0	1	0	3	100				
LMNTD1	160492	broad.mit.edu	37	12	25702464	25702464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr12:25702464C>A	ENST00000282881.6	-	2	192	c.43G>T	c.(43-45)Gga>Tga	p.G15*	IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.G36*|IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.G36*	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		15					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GAATATACTCCAAGTTTGTCT	0.323																																						uc010sji.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(106-108)Gga>Tga		Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.							61.0	55.0	57.0					12																	25702464		2203	4298	6501	SO:0001587	stop_gained	160492					intermediate filament	structural molecule activity	g.chr12:25702464C>A																												ENST00000282881.6:c.43G>T	12.37:g.25702464C>A	ENSP00000282881:p.Gly15*		Somatic				IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Nonsense_Mutation_p.G15*|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.G36*	p.G36*	NM_001145728	NP_001139200	WXS	Illumina GAIIx	Phase_I	Q8N9Z9	ILFT1_HUMAN			2	351	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		15					B4DL27|B4DY70|Q8IY38	Nonsense_Mutation	SNP	ENST00000282881.6	37	c.106G>T	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169770	0.57584	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632	.	.	.	3.89	0.324	0.15898	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7119	6.4763	0.22037	0.0:0.6322:0.0:0.3678	.	.	.	.	X	15;36;36	.	ENSP00000282881:G15X	G	-	1	0	IFLTD1	25593731	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.270000	0.18607	0.038000	0.15604	0.655000	0.94253	GGA		0.323	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			4	107	0	0	0	1	0	4	107				
CSMD1	64478	broad.mit.edu	37	8	3165913	3165913	+	Silent	SNP	G	G	A	rs565627705	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:3165913G>A	ENST00000520002.1	-	25	4302	c.3747C>T	c.(3745-3747)taC>taT	p.Y1249Y	CSMD1_ENST00000400186.3_Silent_p.Y1249Y|CSMD1_ENST00000537824.1_Silent_p.Y1248Y|CSMD1_ENST00000542608.1_Silent_p.Y1248Y|CSMD1_ENST00000602557.1_Silent_p.Y1249Y|CSMD1_ENST00000602723.1_Silent_p.Y1249Y|CSMD1_ENST00000539096.1_Silent_p.Y1248Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1249	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATGCATGGCGTACCCCGGGT	0.517													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19083	0.001		0.0	False		,,,				2504	0.001					uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(3742-3744)taC>taT		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							121.0	115.0	117.0					8																	3165913		2073	4210	6283	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3165913G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3747C>T	8.37:g.3165913G>A			Somatic				CSMD1_uc011kwj.2_Silent_p.Y641Y|CSMD1_uc003wqe.3_Silent_p.Y405Y	p.Y1248Y	NM_033225	NP_150094	WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	23	4134	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1249			Sushi 7.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3744C>T		.	.	.	.	.	.	.	.	.	.	G	5.019	0.189215	0.09547	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.4	-4.81	0.03180	.	.	.	.	.	T	0.62901	0.2466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63462	-0.6632	4	.	.	.	.	14.5489	0.68052	0.5923:0.0:0.4077:0.0	.	.	.	.	C	729	.	.	R	-	1	0	CSMD1	3153320	0.170000	0.23016	0.486000	0.27416	0.522000	0.34438	-0.428000	0.06991	-0.896000	0.03915	-1.149000	0.01842	CGC		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	44	0	0	0	1	0	3	44				
NFAT5	10725	broad.mit.edu	37	16	69727410	69727410	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:69727410C>A	ENST00000354436.2	+	12	3946	c.3628C>A	c.(3628-3630)Cag>Aag	p.Q1210K	NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1227K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1228K|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1134K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1210					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						GGGTTTATTTCAGCCTCAGGT	0.512																																						uc002exl.2																			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.(3682-3684)Cag>Aag		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							79.0	81.0	80.0					16																	69727410		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.chr16:69727410C>A	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.3628C>A	16.37:g.69727410C>A	ENSP00000346420:p.Gln1210Lys		Somatic				NFAT5_uc002exj.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exk.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exn.2_Missense_Mutation_p.Q1227K|NFAT5_uc002exm.2_Missense_Mutation_p.Q1210K|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.Q1134K	p.Q1228K	NM_138713	NP_775322	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			12	4018	+			1210					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3682C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214707	0.58452	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.60548	0.68;0.18;0.18;0.18	5.46	5.46	0.80206	.	0.398439	0.29631	N	0.011608	T	0.73225	0.3560	L	0.56769	1.78	0.53688	D	0.999978	D;P;P	0.54964	0.969;0.924;0.924	D;P;P	0.64877	0.93;0.9;0.9	T	0.74598	-0.3612	10	0.66056	D	0.02	-1.0247	19.3102	0.94184	0.0:1.0:0.0:0.0	.	1227;1210;1228	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	1228;1227;1134;1210;1134	ENSP00000396538:Q1228K;ENSP00000338806:Q1134K;ENSP00000346420:Q1210K;ENSP00000377343:Q1134K	ENSP00000338806:Q1134K	Q	+	1	0	NFAT5	68284911	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.677000	0.68142	2.565000	0.86533	0.555000	0.69702	CAG		0.512	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	110	0	0	0	1	0	4	110				
STAT5B	6777	broad.mit.edu	37	17	40354774	40354774	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr17:40354774C>G	ENST00000293328.3	-	17	2298		c.e17+1			NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B						2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGACACTTACTCAGGGACCA	0.532																																						uc002hzh.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e17+1		Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	Dasatinib(DB01254)						310.0	232.0	258.0					17																	40354774		2203	4300	6503	SO:0001630	splice_region_variant	6777				2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40354774C>G	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2129+1G>C	17.37:g.40354774C>G			Somatic					p.E710_splice	NM_012448	NP_036580	WXS	Illumina GAIIx	Phase_I	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	17	2298	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	710					Q8WWS8	Splice_Site	SNP	ENST00000293328.3	37	c.2129_splice	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101081	0.76983	.	.	ENSG00000173757	ENST00000293328	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3352	0.87278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT5B	37608300	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.466000	0.80914	2.323000	0.78572	0.561000	0.74099	.		0.532	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	Intron	9	232	0	0	0	1	0	9	232				
CAMK2B	816	broad.mit.edu	37	7	44269096	44269096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:44269096delG	ENST00000395749.2	-	18	1306	c.1230delC	c.(1228-1230)cccfs	p.P410fs	CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	410					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGGGGACCCTGGGGGCTGAGG	0.697																																						uc003tkq.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1228-1230)cccfs		Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.							6.0	6.0	6.0					7																	44269096		2061	4116	6177	SO:0001589	frameshift_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44269096delG	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1230delC	7.37:g.44269096delG	ENSP00000379098:p.Pro410fs		Somatic				CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_5'UTR	p.P410fs	NM_001220	NP_001211	WXS	Illumina GAIIx	Phase_I	Q13554	KCC2B_HUMAN			17	1440	-			410					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Del	DEL	ENST00000395749.2	37	c.1230delC	CCDS5483.1																																																																																				0.697	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		2	4						2	4	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531657	50531657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr10:50531657delC	ENST00000374144.3	+	3	1355	c.1067delC	c.(1066-1068)gccfs	p.A356fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.A356fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	356										endometrium(1)	1						GATCCAGGAGCCCAGGTATTT	0.567																																						uc021pqb.1																			0				endometrium(1)	1						c.(1066-1068)gccfs		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.							45.0	48.0	47.0					10																	50531657		1886	4101	5987	SO:0001589	frameshift_variant	118461							g.chr10:50531657delC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1067delC	10.37:g.50531657delC	ENSP00000363259:p.Ala356fs		Somatic				C10orf71_uc021pqa.1_Frame_Shift_Del_p.A355fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.A356fs	p.A356fs	NM_001135196	NP_001128668	WXS	Illumina GAIIx	Phase_I	Q711Q0	CJ071_HUMAN			0	1067	+			356					A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	37	c.1067delC	CCDS44387.1																																																																																				0.567	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		43	55						43	55	---	---	---	---
