#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GBP1	2633	broad.mit.edu	37	1	89523762	89523762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:89523762C>T	ENST00000370473.4	-	6	1006	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	263	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.V263M(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTGTTGCACAAATTCGGGG	0.473																																						ENST00000370473.4																			1	Substitution - Missense(1)	p.V263M(1)	prostate(1)	endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(787-789)Gtg>Atg		guanylate binding protein 1, interferon-inducible							151.0	160.0	157.0					1																	89523762		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523762C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.787G>A	1.37:g.89523762C>T	ENSP00000359504:p.Val263Met		Somatic					p.V263M	NM_002053.2	NP_002044.2	WXS	Illumina GAIIx	Phase_I	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	1006	-		Lung NSC(277;0.123)	263					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.787G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743887	0.49151	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.74737	-0.87	4.48	-0.0912	0.13661	Guanylate-binding protein, N-terminal (1);	0.538338	0.18532	N	0.138476	T	0.58864	0.2152	M	0.92649	3.33	0.21290	N	0.99974	D	0.52996	0.957	B	0.39904	0.313	T	0.58228	-0.7673	10	0.52906	T	0.07	.	2.6481	0.04991	0.1468:0.5292:0.1434:0.1806	.	263	P32455	GBP1_HUMAN	M	263;226	ENSP00000359504:V263M	ENSP00000359504:V263M	V	-	1	0	GBP1	89296350	0.002000	0.14202	0.013000	0.15412	0.256000	0.26092	-0.403000	0.07214	0.318000	0.23185	0.313000	0.20887	GTG		0.473	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		23	351	23	351	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112524316	112524316	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:112524316C>T	ENST00000315987.2	-	2	1512	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	KCND3_ENST00000302127.4_Missense_Mutation_p.G345S|KCND3_ENST00000369697.1_Missense_Mutation_p.G345S	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	345			G -> V (in SCA19). {ECO:0000269|PubMed:23280837}.		cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G345S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCCGAGGAGCCCTTCTCGGCA	0.527																																						ENST00000369697.1																			1	Substitution - Missense(1)	p.G345S(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1033-1035)Ggc>Agc		potassium voltage-gated channel, Shal-related subfamily, member 3							110.0	98.0	102.0					1																	112524316		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524316C>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1033G>A	1.37:g.112524316C>T	ENSP00000319591:p.Gly345Ser		Somatic				KCND3_ENST00000302127.4_Missense_Mutation_p.G345S|KCND3_ENST00000315987.2_Missense_Mutation_p.G345S	p.G345S			WXS	Illumina GAIIx	Phase_I	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	1102	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	345					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1033G>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463151	0.63513	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98835	-5.17;-5.17;-5.17	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	L	0.45285	1.41	0.80722	D	1	B;B	0.29766	0.256;0.132	B;B	0.36418	0.224;0.224	D	0.95657	0.8712	10	0.40728	T	0.16	.	18.9601	0.92674	0.0:1.0:0.0:0.0	.	345;345	Q14D71;Q9UK17	.;KCND3_HUMAN	S	345	ENSP00000358711:G345S;ENSP00000319591:G345S;ENSP00000306923:G345S	ENSP00000306923:G345S	G	-	1	0	KCND3	112325839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.579000	0.87056	0.655000	0.94253	GGC		0.527	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		35	39	35	39	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	145015938	145015938	+	Silent	SNP	C	C	T	rs144857876	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:145015938C>T	ENST00000530740.1	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000369359.4_Silent_p.P121P|RP11-326G21.1_ENST00000610119.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - coding silent(1)	p.P121P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(361-363)ccG>ccA		phosphodiesterase 4D interacting protein		C	,	1,4405		0,1,2202	338.0	381.0	366.0		150,363	-9.6	0.0	1	dbSNP_134	366	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_022359.5	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	50/2241,121/311	145015938	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015938C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.363G>A	1.37:g.145015938C>T			Somatic				PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000478649.2_Silent_p.P50P	p.P121P			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	401	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000530740.1	37	c.363G>A																																																																																					0.443	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		73	518	73	518	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210977309	210977309	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:210977309C>A	ENST00000271751.4	-	8	1689	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	KCNH1_ENST00000367007.4_Splice_Site_p.K527N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	554					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.K554N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCCTCCTTACCTTCTCTGTGT	0.488																																						ENST00000367007.4																			2	Substitution - Missense(2)	p.K554N(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1579-1581)aaG>aaT		potassium voltage-gated channel, subfamily H (eag-related), member 1							156.0	143.0	147.0					1																	210977309		2203	4300	6503	SO:0001630	splice_region_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210977309C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1662+1G>T	1.37:g.210977309C>A			Somatic				KCNH1_ENST00000271751.4_Splice_Site_p.K554N	p.K527N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	WXS	Illumina GAIIx	Phase_I	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	8	1750	-			554					B1AQ26|O76035|Q14CL3	Splice_Site	SNP	ENST00000271751.4	37	c.1581G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951997	0.92660	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96802	-4.13;-4.13	5.6	5.6	0.85130	Cyclic nucleotide-binding-like (1);	0.042734	0.85682	N	0.000000	D	0.97570	0.9204	M	0.71581	2.175	0.80722	D	1	D;D	0.56287	0.957;0.975	P;P	0.60345	0.822;0.873	D	0.97157	0.9835	9	.	.	.	.	19.6055	0.95580	0.0:1.0:0.0:0.0	.	527;554	Q14CL3;O95259	.;KCNH1_HUMAN	N	554;527	ENSP00000271751:K554N;ENSP00000355974:K527N	.	K	-	3	2	KCNH1	209043932	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.525000	0.81892	2.645000	0.89757	0.511000	0.50034	AAG		0.488	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	Missense_Mutation	68	113	68	113	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210968826	210968826	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:210968826A>C	ENST00000281772.9	-	4	1692		c.e4+1		KANSL1L_ENST00000457374.1_Splice_Site|KANSL1L_ENST00000418791.1_Splice_Site|KANSL1L_ENST00000452086.1_Splice_Site	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like							histone acetyltransferase complex (GO:0000123)		p.?(1)									CTTTGACTTTACCTGTTTTTC	0.368																																						ENST00000281772.9																			1	Unknown(1)	p.?(1)	prostate(1)								c.e4+1		KAT8 regulatory NSL complex subunit 1-like							88.0	82.0	84.0					2																	210968826		2203	4300	6503	SO:0001630	splice_region_variant	151050							g.chr2:210968826A>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1428+1T>G	2.37:g.210968826A>C			Somatic				KANSL1L_ENST00000457374.1_Splice_Site|KANSL1L_ENST00000452086.1_Splice_Site|KANSL1L_ENST00000418791.1_Splice_Site		NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	A0AUZ9	CB067_HUMAN			4	1692	-								B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37		CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.79|18.79	3.699044|3.699044	0.68501|0.68501	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086;ENST00000428655;ENST00000438563|ENST00000415553	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.809|15.809	0.78543|0.78543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|E	-1|196	.|.	.|.	.|X	-|-	.|1	.|0	C2orf67|C2orf67	210677071|210677071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.695000|6.695000	0.74593|0.74593	2.193000|2.193000	0.70182|0.70182	0.477000|0.477000	0.44152|0.44152	.|TAA		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	Intron	7	79	7	79	---	---	---	---
SLC25A20	788	broad.mit.edu	37	3	48896044	48896044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:48896044T>G	ENST00000319017.4	-	8	937	c.739A>C	c.(739-741)Aat>Cat	p.N247H	SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H|SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	247					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.N247H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTGAAACCATTAGGATATTTC	0.493																																						ENST00000319017.4																			1	Substitution - Missense(1)	p.N247H(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13						c.(739-741)Aat>Cat		solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	L-Carnitine(DB00583)						108.0	102.0	104.0					3																	48896044		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48896044T>G	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.739A>C	3.37:g.48896044T>G	ENSP00000326305:p.Asn247His		Somatic				SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H|SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H	p.N247H	NM_000387.5	NP_000378.1	WXS	Illumina GAIIx	Phase_I	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	937	-			247					B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.739A>C	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646741	0.29246	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.79653	-1.29;-1.29;-1.29	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.085364	0.85682	D	0.000000	T	0.76219	0.3957	L	0.49455	1.56	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.18263	0.021;0.005	T	0.70579	-0.4833	10	0.22706	T	0.39	-18.3215	15.5433	0.76074	0.0:0.0:0.0:1.0	.	174;247	C9JPE1;O43772	.;MCAT_HUMAN	H	174;247;197	ENSP00000388986:N174H;ENSP00000326305:N247H;ENSP00000438731:N197H	ENSP00000326305:N247H	N	-	1	0	SLC25A20	48871048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.858000	0.55979	2.158000	0.67659	0.528000	0.53228	AAT		0.493	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		82	126	82	126	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121137219	121137219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:121137219C>A	ENST00000273666.6	+	27	3605	c.3334C>A	c.(3334-3336)Ctt>Att	p.L1112I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1112					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1112I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCCGCAGCCTTGCGCAACA	0.483																																						ENST00000273666.6																			1	Substitution - Missense(1)	p.L1112I(1)	prostate(1)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3334-3336)Ctt>Att		syntaxin binding protein 5-like							47.0	51.0	49.0					3																	121137219		1955	4161	6116	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137219C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3334C>A	3.37:g.121137219C>A	ENSP00000273666:p.Leu1112Ile		Somatic				STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	p.L1112I	NM_014980.2	NP_055795.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	27	3605	+			1112					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3334C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010201	0.35415	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.23552	1.9;1.9;1.96	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.22085	0.0532	N	0.25031	0.7	0.80722	D	1	P;P	0.46912	0.886;0.886	B;B	0.42738	0.396;0.396	T	0.01781	-1.1275	10	0.25106	T	0.35	-12.8273	19.0738	0.93151	0.0:1.0:0.0:0.0	.	1088;1112	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	1112;1088;1055	ENSP00000273666:L1112I;ENSP00000420019:L1088I;ENSP00000420167:L1055I	ENSP00000273666:L1112I	L	+	1	0	STXBP5L	122619909	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.919000	0.63383	2.512000	0.84698	0.655000	0.94253	CTT		0.483	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			4	42	4	42	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91229663	91229663	+	Silent	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr4:91229663T>C	ENST00000509176.1	+	2	516	c.228T>C	c.(226-228)agT>agC	p.S76S	CCSER1_ENST00000333691.8_Silent_p.S76S|CCSER1_ENST00000432775.2_Silent_p.S76S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	76								p.S76S(2)									AGAAGGGGAGTGAGCCTAAGC	0.458																																						ENST00000509176.1																			2	Substitution - coding silent(2)	p.S76S(2)	prostate(2)								c.(226-228)agT>agC		coiled-coil serine-rich protein 1							154.0	144.0	147.0					4																	91229663		1951	4157	6108	SO:0001819	synonymous_variant	401145							g.chr4:91229663T>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.228T>C	4.37:g.91229663T>C			Somatic				CCSER1_ENST00000432775.2_Silent_p.S76S|CCSER1_ENST00000333691.8_Silent_p.S76S	p.S76S	NM_001145065.1	NP_001138537.1	WXS	Illumina GAIIx	Phase_I					2	516	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.228T>C	CCDS47099.1																																																																																				0.458	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		53	86	53	86	---	---	---	---
FST	10468	broad.mit.edu	37	5	52780040	52780040	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:52780040C>A	ENST00000256759.3	+	4	1021	c.638C>A	c.(637-639)aCc>aAc	p.T213N	FST_ENST00000396947.3_Missense_Mutation_p.T213N	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	213	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.T213N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GATGGAGTCACCTACTCCAGT	0.502																																						ENST00000396947.3																			1	Substitution - Missense(1)	p.T213N(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(637-639)aCc>aAc		follistatin							134.0	123.0	127.0					5																	52780040		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52780040C>A	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.638C>A	5.37:g.52780040C>A	ENSP00000256759:p.Thr213Asn		Somatic				FST_ENST00000256759.3_Missense_Mutation_p.T213N	p.T213N	NM_006350.3	NP_006341.1	WXS	Illumina GAIIx	Phase_I	P19883	FST_HUMAN			4	804	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	213			Kazal-like 2.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.638C>A	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815127	0.90790	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.08546	3.08;3.08;3.08	6.17	6.17	0.99709	Proteinase inhibitor I1, Kazal (2);	0.189908	0.56097	D	0.000021	T	0.28167	0.0695	M	0.88775	2.98	0.58432	D	0.999998	P	0.52463	0.953	P	0.49252	0.604	T	0.05517	-1.0880	10	0.87932	D	0	-29.0041	20.8794	0.99867	0.0:1.0:0.0:0.0	.	213	P19883	FST_HUMAN	N	213;213;213;85	ENSP00000256759:T213N;ENSP00000380151:T213N;ENSP00000426315:T85N	ENSP00000256759:T213N	T	+	2	0	FST	52815797	0.996000	0.38824	1.000000	0.80357	0.933000	0.57130	3.073000	0.50057	2.941000	0.99782	0.655000	0.94253	ACC		0.502	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		13	95	13	95	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156184679	156184679	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:156184679C>T	ENST00000435422.3	+	7	1147	c.660C>T	c.(658-660)tgC>tgT	p.C220C	SGCD_ENST00000337851.4_Silent_p.C221C|SGCD_ENST00000447401.1_Silent_p.C221C|SGCD_ENST00000517913.1_Silent_p.C221C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	220					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.C221C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGCCACCTGCAGGACAGAGC	0.512																																						ENST00000435422.3																			1	Substitution - coding silent(1)	p.C221C(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(658-660)tgC>tgT		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							69.0	69.0	69.0					5																	156184679		1946	4147	6093	SO:0001819	synonymous_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156184679C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.660C>T	5.37:g.156184679C>T			Somatic				SGCD_ENST00000517913.1_Silent_p.C221C|SGCD_ENST00000337851.4_Silent_p.C221C|SGCD_ENST00000447401.1_Silent_p.C221C	p.C220C	NM_001128209.1	NP_001121681.1	WXS	Illumina GAIIx	Phase_I	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1147	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	220					A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	c.660C>T	CCDS47327.1																																																																																				0.512	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			7	12	7	12	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179731798	179731798	+	Missense_Mutation	SNP	C	C	T	rs552846107	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:179731798C>T	ENST00000253778.8	-	17	1985	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	606	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.A606T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCTGCAGGGCGTTCTGGCAT	0.607													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19243	0.001		0.0	False		,,,				2504	0.0					ENST00000253778.8																			1	Substitution - Missense(1)	p.A606T(1)	prostate(1)	breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1816-1818)Gcc>Acc		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						137.0	153.0	148.0					5																	179731798		2073	4199	6272	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731798C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1816G>A	5.37:g.179731798C>T	ENSP00000253778:p.Ala606Thr		Somatic					p.A606T	NM_005110.2	NP_005101.1	WXS	Illumina GAIIx	Phase_I	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1985	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	606			SIS 2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.1816G>A	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342061	0.95783	.	.	ENSG00000131459	ENST00000253778	T	0.69175	-0.38	5.75	5.75	0.90469	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87483	0.2422	9	.	.	.	-30.2879	19.9421	0.97168	0.0:1.0:0.0:0.0	.	606	O94808	GFPT2_HUMAN	T	606	ENSP00000253778:A606T	.	A	-	1	0	GFPT2	179664404	1.000000	0.71417	0.885000	0.34714	0.729000	0.41735	7.711000	0.84669	2.714000	0.92807	0.561000	0.74099	GCC		0.607	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		23	292	23	292	---	---	---	---
ZSCAN23	222696	broad.mit.edu	37	6	28403808	28403808	+	Missense_Mutation	SNP	G	G	A	rs201915589		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:28403808G>A	ENST00000289788.4	-	2	381	c.236C>T	c.(235-237)cCa>cTa	p.P79L	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	79	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P79L(1)		breast(1)|prostate(1)|stomach(2)	4						GTGCATCTCTGGTCTCAGCCA	0.587																																						ENST00000289788.4																			1	Substitution - Missense(1)	p.P79L(1)	prostate(1)	breast(1)|prostate(1)|stomach(2)	4						c.(235-237)cCa>cTa		zinc finger and SCAN domain containing 23							46.0	45.0	45.0					6																	28403808		692	1591	2283	SO:0001583	missense	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28403808G>A	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.236C>T	6.37:g.28403808G>A	ENSP00000289788:p.Pro79Leu		Somatic				ZSCAN23_ENST00000486481.1_Intron	p.P79L	NM_001012455.1	NP_001012458.1	WXS	Illumina GAIIx	Phase_I	Q3MJ62	ZSC23_HUMAN			2	381	-			79			SCAN box.		Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	37	c.236C>T	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377724	0.61735	.	.	ENSG00000187987	ENST00000289788	T	0.11930	2.73	3.6	3.6	0.41247	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.46145	D	0.000305	T	0.47340	0.1440	H	0.99634	4.67	0.37202	D	0.904421	D;B	0.89917	1.0;0.43	D;B	0.81914	0.995;0.164	T	0.66056	-0.6018	10	0.87932	D	0	.	9.2864	0.37760	0.0:0.2208:0.7792:0.0	.	79;79	G3V1D5;Q3MJ62	.;ZSC23_HUMAN	L	79	ENSP00000289788:P79L	ENSP00000289788:P79L	P	-	2	0	ZSCAN23	28511787	0.983000	0.35010	0.978000	0.43139	0.998000	0.95712	3.876000	0.56115	2.272000	0.75746	0.557000	0.71058	CCA		0.587	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		5	43	5	43	---	---	---	---
CPNE5	57699	broad.mit.edu	37	6	36767797	36767797	+	Silent	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:36767797G>T	ENST00000244751.2	-	4	858	c.234C>A	c.(232-234)cgC>cgA	p.R78R		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	78	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAATGAACTTGCGCACGAAGT	0.542																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(232-234)cgC>cgA		copine V							98.0	83.0	88.0					6																	36767797		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36767797G>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.234C>A	6.37:g.36767797G>T			Somatic					p.R78R	NM_020939.1	NP_065990.1	WXS	Illumina GAIIx	Phase_I	Q9HCH3	CPNE5_HUMAN			4	858	-			78			C2 1.		Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.234C>A	CCDS4825.1																																																																																				0.542	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		3	43	3	43	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152832185	152832185	+	Silent	SNP	T	T	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:152832185T>A	ENST00000367255.5	-	7	964	c.363A>T	c.(361-363)atA>atT	p.I121I	SYNE1_ENST00000448038.1_Silent_p.I128I|SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000265368.4_Silent_p.I121I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	121	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I121I(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAAGAACTATTGAGGGTC	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - coding silent(3)	p.I121I(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(361-363)atA>atT		spectrin repeat containing, nuclear envelope 1							175.0	177.0	177.0					6																	152832185		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152832185T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.363A>T	6.37:g.152832185T>A		HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000265368.4_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000448038.1_Silent_p.I128I	p.I121I	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	7	964	-		Ovarian(120;0.0955)	121			Actin-binding.|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.363A>T	CCDS5236.2																																																																																				0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	155	27	155	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91712644	91712644	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:91712644T>G	ENST00000359028.2	+	34	8582	c.8357T>G	c.(8356-8358)cTg>cGg	p.L2786R	AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R|AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2786					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L2786R(1)|p.L2774R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTATAAAACTGAGTAAGAGC	0.388			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)	p.L2786R(1)|p.L2774R(1)	prostate(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8356-8358)cTg>cGg		A kinase (PRKA) anchor protein 9							84.0	82.0	82.0					7																	91712644		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91712644T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8357T>G	7.37:g.91712644T>G	ENSP00000351922:p.Leu2786Arg		Somatic				AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R	p.L2786R			WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		34	8582	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2786					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8357T>G		.	.	.	.	.	.	.	.	.	.	T	0.487	-0.876945	0.02550	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.8	-0.594	0.11664	.	1.091200	0.07305	N	0.874837	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26483	0.15;0.09;0.054;0.09;0.09	B;B;B;B;B	0.26614	0.071;0.033;0.015;0.044;0.044	T	0.18840	-1.0324	10	0.25106	T	0.35	.	0.8603	0.01191	0.1549:0.2469:0.1596:0.4386	.	2778;2778;2786;2774;2766	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	R	2774;2786;2786;2778;620	ENSP00000348573:L2774R;ENSP00000351922:L2786R;ENSP00000350813:L2786R;ENSP00000378042:L620R	ENSP00000348573:L2774R	L	+	2	0	AKAP9	91550580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.486000	0.22340	0.007000	0.14760	0.482000	0.46254	CTG		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	63	10	63	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105509611	105509611	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:105509611G>T	ENST00000276654.5	-	5	1277	c.1169C>A	c.(1168-1170)aCt>aAt	p.T390N	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	390	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.T390N(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTGCTCAGTATAACACCC	0.453																																						ENST00000276654.5																			1	Substitution - Missense(1)	p.T390N(1)	prostate(1)	NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1168-1170)aCt>aAt		low density lipoprotein receptor-related protein 12							111.0	107.0	108.0					8																	105509611		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509611G>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1169C>A	8.37:g.105509611G>T	ENSP00000276654:p.Thr390Asn		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	p.T390N	NM_013437.4	NP_038465.1	WXS	Illumina GAIIx	Phase_I	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1277	-			390			LDL-receptor class A 3.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1169C>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094852	0.56075	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.58358	0.34;0.34	5.66	5.66	0.87406	.	0.091536	0.85682	D	0.000000	T	0.52645	0.1747	L	0.51422	1.61	0.80722	D	1	P;P	0.48016	0.904;0.845	B;B	0.41988	0.372;0.205	T	0.55451	-0.8139	10	0.49607	T	0.09	-21.7075	19.7495	0.96261	0.0:0.0:1.0:0.0	.	371;390	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	371;390	ENSP00000399148:T371N;ENSP00000276654:T390N	ENSP00000276654:T390N	T	-	2	0	LRP12	105578787	1.000000	0.71417	0.682000	0.30024	0.827000	0.46813	6.387000	0.73191	2.685000	0.91497	0.455000	0.32223	ACT		0.453	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		23	176	23	176	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486842	94486842	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:94486842T>C	ENST00000375708.3	-	9	2132	c.1934A>G	c.(1933-1935)tAc>tGc	p.Y645C	ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.Y645C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCTTGTAGTAATCGGCGGC	0.562																																						ENST00000375708.3																			1	Substitution - Missense(1)	p.Y645C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1933-1935)tAc>tGc		receptor tyrosine kinase-like orphan receptor 2							86.0	77.0	80.0					9																	94486842		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486842T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1934A>G	9.37:g.94486842T>C	ENSP00000364860:p.Tyr645Cys		Somatic				ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C|ROR2_ENST00000550066.1_5'UTR	p.Y645C	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	Q01974	ROR2_HUMAN			9	2132	-			645			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1934A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149540	0.57151	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83673	-1.75;-1.75	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38436	N	0.001697	D	0.92057	0.7483	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93595	0.6925	10	0.87932	D	0	.	14.6483	0.68777	0.0:0.0:0.0:1.0	.	645;505	Q01974;B1APY4	ROR2_HUMAN;.	C	505;645	ENSP00000364867:Y505C;ENSP00000364860:Y645C	ENSP00000364860:Y645C	Y	-	2	0	ROR2	93526663	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.781000	0.85668	2.044000	0.60594	0.459000	0.35465	TAC		0.562	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			23	24	23	24	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112185102	112185102	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:112185102C>T	ENST00000374541.2	-	13	1136	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	PTPN3_ENST00000412145.1_Silent_p.V213V|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	344					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.V344V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCCGCCAATCACCTTTTTGC	0.463																																						ENST00000412145.1																			2	Substitution - coding silent(2)	p.V344V(2)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(637-639)gtG>gtA		protein tyrosine phosphatase, non-receptor type 3							216.0	199.0	205.0					9																	112185102		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185102C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1032G>A	9.37:g.112185102C>T			Somatic				PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.V344V|PTPN3_ENST00000262539.3_Intron	p.V213V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	WXS	Illumina GAIIx	Phase_I	P26045	PTN3_HUMAN			8	3192	-			344			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.639G>A	CCDS6776.1																																																																																				0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			78	117	78	117	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134497351	134497351	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:134497351C>T	ENST00000372189.3	-	11	1809	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RAPGEF1_ENST00000372195.1_Silent_p.S579S|RAPGEF1_ENST00000372190.3_Silent_p.S580S	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	562					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.S257S(1)|p.S580S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587																																						ENST00000372195.1																			2	Substitution - coding silent(2)	p.S257S(1)|p.S580S(1)	prostate(2)	NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1735-1737)tcG>tcA		Rap guanine nucleotide exchange factor (GEF) 1							62.0	71.0	68.0					9																	134497351		2088	4215	6303	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134497351C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1686G>A	9.37:g.134497351C>T			Somatic				RAPGEF1_ENST00000372189.3_Silent_p.S562S|RAPGEF1_ENST00000372190.3_Silent_p.S580S	p.S579S			WXS	Illumina GAIIx	Phase_I	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	11	1980	-		Myeloproliferative disorder(178;0.204)	562					Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.1737G>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965039	0.18583	.	.	ENSG00000107263	ENST00000419442	.	.	.	5.57	-9.5	0.00584	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	4	.	.	.	.	6.0013	0.19521	0.1512:0.1826:0.075:0.5912	.	.	.	.	Q	21	.	.	R	-	2	0	RAPGEF1	133487172	0.000000	0.05858	0.465000	0.27155	0.887000	0.51463	-3.221000	0.00552	-2.056000	0.00898	-1.036000	0.02392	CGG		0.587	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		10	17	10	17	---	---	---	---
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:108192065G>A	ENST00000452508.2	+	46	6679	c.6490G>A	c.(6490-6492)Gag>Aag	p.E2164K	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2164K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2164	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		E -> K (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCGCAGCCTTGAGTCTGTGTA	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		3	Substitution - Missense(3)	p.E2164K(3)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6490-6492)Gag>Aag	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							159.0	147.0	151.0					11																	108192065		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108192065G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6490G>A	11.37:g.108192065G>A	ENSP00000388058:p.Glu2164Lys	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.E2164K|C11orf65_ENST00000525729.1_Intron	p.E2164K	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	45	6875	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2164		E -> K (in T-prolymphocytic leukemia).	FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6490G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.795487	0.96952	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73047	-0.71;-0.71	5.83	5.83	0.93111	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85496	0.1188	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	2164	Q13315	ATM_HUMAN	K	2164	ENSP00000278616:E2164K;ENSP00000388058:E2164K	ENSP00000278616:E2164K	E	+	1	0	ATM	107697275	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.055000	0.93873	2.753000	0.94483	0.585000	0.79938	GAG		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		66	131	66	131	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790584	133790584	+	Silent	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:133790584G>T	ENST00000321016.8	-	18	3266	c.3036C>A	c.(3034-3036)atC>atA	p.I1012I	IGSF9B_ENST00000533871.2_Silent_p.I1012I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1012	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.I1012I(1)|p.I468I(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTCCTCGGGGATGGTGGGGT	0.672																																						ENST00000321016.8																			2	Substitution - coding silent(2)	p.I1012I(1)|p.I468I(1)	prostate(2)	breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3034-3036)atC>atA		immunoglobulin superfamily, member 9B							46.0	53.0	51.0					11																	133790584		2074	4198	6272	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133790584G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3036C>A	11.37:g.133790584G>T			Somatic				IGSF9B_ENST00000533871.2_Silent_p.I1012I	p.I1012I			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3266	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1012			Pro-rich.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.3036C>A																																																																																					0.672	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		8	109	8	109	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207456	58207456	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr13:58207456G>T	ENST00000377918.3	+	1	802	c.776G>T	c.(775-777)gGt>gTt	p.G259V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G259V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTCCGCTGGGTACAGTGGTC	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			1	Substitution - Missense(1)	p.G259V(1)	prostate(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(775-777)gGt>gTt		protocadherin 17							73.0	63.0	66.0					13																	58207456		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207456G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.776G>T	13.37:g.58207456G>T	ENSP00000367151:p.Gly259Val		Somatic					p.G259V	NM_001040429.2	NP_001035519.1	WXS	Illumina GAIIx	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	802	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	259			Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.776G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959476	0.53400	.	.	ENSG00000118946	ENST00000377918	T	0.70399	-0.48	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89343	0.3655	9	.	.	.	.	18.2082	0.89861	0.0:0.0:1.0:0.0	.	259;259	O14917-2;O14917	.;PCD17_HUMAN	V	259	ENSP00000367151:G259V	.	G	+	2	0	PCDH17	57105457	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	9.657000	0.98554	2.558000	0.86282	0.650000	0.86243	GGT		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		35	51	35	51	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85326137	85326137	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr15:85326137G>A	ENST00000560079.2	+	4	519	c.231G>A	c.(229-231)gaG>gaA	p.E77E	ZNF592_ENST00000299927.3_Silent_p.E77E	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	77					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E77E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCGCCAGGAGTCATTTGAAG	0.527																																						ENST00000299927.3																			1	Substitution - coding silent(1)	p.E77E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(229-231)gaG>gaA		zinc finger protein 592							80.0	79.0	79.0					15																	85326137		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326137G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.231G>A	15.37:g.85326137G>A			Somatic				ZNF592_ENST00000560079.2_Silent_p.E77E	p.E77E			WXS	Illumina GAIIx	Phase_I	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	253	+			77					Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.231G>A	CCDS32317.1																																																																																				0.527	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		9	83	9	83	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30986138	30986138	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:30986138G>A	ENST00000318217.5	-	17	2644	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.F692F|MYO1D_ENST00000579584.1_Silent_p.F780F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	780					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.F780F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTTACCTATTGAAAATCGTCT	0.493											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318217.5																			1	Substitution - coding silent(1)	p.F780F(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2338-2340)ttC>ttT		myosin ID							93.0	80.0	84.0					17																	30986138		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986138G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2340C>T	17.37:g.30986138G>A			Somatic	OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_ENST00000394649.4_Silent_p.F692F|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.F780F	p.F780F	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2644	-			780					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2340C>T	CCDS32615.1																																																																																				0.493	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			32	61	32	61	---	---	---	---
GRB7	2886	broad.mit.edu	37	17	37898891	37898891	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:37898891T>G	ENST00000309156.4	+	3	485	c.228T>G	c.(226-228)agT>agG	p.S76R	GRB7_ENST00000394209.2_Missense_Mutation_p.S76R|GRB7_ENST00000445327.2_Missense_Mutation_p.S99R|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	76					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.S76R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTCTGCAGTCCTCCCTCAC	0.632																																						ENST00000309156.4																			2	Substitution - Missense(2)	p.S76R(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(226-228)agT>agG		growth factor receptor-bound protein 7							63.0	71.0	68.0					17																	37898891		2200	4299	6499	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37898891T>G	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.228T>G	17.37:g.37898891T>G	ENSP00000310771:p.Ser76Arg		Somatic				GRB7_ENST00000445327.2_Missense_Mutation_p.S99R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R|GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000394209.2_Missense_Mutation_p.S76R	p.S76R	NM_005310.3	NP_005301.2	WXS	Illumina GAIIx	Phase_I	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	485	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		76					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.228T>G	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475817	0.26511	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.14	0.0179	0.14114	.	0.078748	0.85682	D	0.000000	T	0.56156	0.1966	L	0.59436	1.845	0.43550	D	0.995854	D;P	0.67145	0.996;0.551	D;B	0.63793	0.918;0.152	T	0.55655	-0.8107	10	0.54805	T	0.06	-16.0535	9.5031	0.39031	0.0:0.5386:0.0:0.4614	.	76;76	Q14451-2;Q14451	.;GRB7_HUMAN	R	76;76;76;76;99;76	ENSP00000311752:S76R;ENSP00000310771:S76R;ENSP00000377761:S76R;ENSP00000377759:S76R;ENSP00000403459:S99R;ENSP00000377754:S76R	ENSP00000310771:S76R	S	+	3	2	GRB7	35152417	0.357000	0.24938	0.997000	0.53966	0.655000	0.38815	-0.488000	0.06497	0.267000	0.21916	-0.366000	0.07423	AGT		0.632	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		60	109	60	109	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41611325	41611325	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:41611325G>A	ENST00000319349.5	-	6	583	c.285C>T	c.(283-285)atC>atT	p.I95I	ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000545954.1_Silent_p.I56I|ETV4_ENST00000591713.1_Silent_p.I95I|ETV4_ENST00000545089.1_Silent_p.I95I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	95					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I95I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTCCTTCTTGATCCTGGTGG	0.627			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	1	Substitution - coding silent(1)	p.I95I(1)	prostate(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(283-285)atC>atT		ets variant 4							32.0	39.0	37.0					17																	41611325		2203	4300	6503	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41611325G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.285C>T	17.37:g.41611325G>A			Somatic				ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000545089.1_Silent_p.I95I|ETV4_ENST00000591713.1_Silent_p.I95I|ETV4_ENST00000545954.1_Silent_p.I56I	p.I95I	NM_001079675.2	NP_001073143.1	WXS	Illumina GAIIx	Phase_I	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	6	583	-		Breast(137;0.00908)	95					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.285C>T	CCDS11465.1																																																																																				0.627	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		37	18	37	18	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42635479	42635479	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635479C>T	ENST00000315323.3	+	1	555	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	141	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F141F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTTCCCGCGCCACG	0.711																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.F141F(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(421-423)ttC>ttT		frizzled family receptor 2							28.0	31.0	30.0					17																	42635479		2200	4297	6497	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635479C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.423C>T	17.37:g.42635479C>T			Somatic					p.F141F	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	555	+		Prostate(33;0.0181)	141			FZ.		Q0VG82	Silent	SNP	ENST00000315323.3	37	c.423C>T	CCDS11484.1																																																																																				0.711	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		36	45	36	45	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42635702	42635702	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635702C>G	ENST00000315323.3	+	1	778	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	216					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L216V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACAAGTTTCTGGGCGAGCG	0.672																																						ENST00000315323.3																			1	Substitution - Missense(1)	p.L216V(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(646-648)Ctg>Gtg		frizzled family receptor 2							30.0	30.0	30.0					17																	42635702		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635702C>G	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.646C>G	17.37:g.42635702C>G	ENSP00000323901:p.Leu216Val		Somatic					p.L216V	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	778	+		Prostate(33;0.0181)	216					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.646C>G	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	2.676	-0.276497	0.05679	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73469	-0.75	4.48	3.26	0.37387	.	0.000000	0.64402	D	0.000003	T	0.63663	0.2530	L	0.50333	1.59	0.43724	D	0.996201	P	0.37548	0.599	B	0.32465	0.146	T	0.66212	-0.5980	10	0.44086	T	0.13	.	9.9157	0.41432	0.0:0.8131:0.0:0.1869	.	216	Q14332	FZD2_HUMAN	V	292;216	ENSP00000323901:L216V	ENSP00000323901:L216V	L	+	1	2	FZD2	39991228	0.023000	0.18921	0.999000	0.59377	0.994000	0.84299	-0.104000	0.10923	2.018000	0.59344	0.561000	0.74099	CTG		0.672	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		22	22	22	22	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42636061	42636061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636061C>G	ENST00000315323.3	+	1	1137	c.1005C>G	c.(1003-1005)taC>taG	p.Y335*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	335					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y335*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGATGCTCTACTTCTTCAGCA	0.617																																						ENST00000315323.3																			1	Substitution - Nonsense(1)	p.Y335*(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1003-1005)taC>taG		frizzled family receptor 2							95.0	86.0	89.0					17																	42636061		2203	4300	6503	SO:0001587	stop_gained	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636061C>G	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1005C>G	17.37:g.42636061C>G	ENSP00000323901:p.Tyr335*		Somatic					p.Y335*	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1137	+		Prostate(33;0.0181)	335					Q0VG82	Nonsense_Mutation	SNP	ENST00000315323.3	37	c.1005C>G	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.968667	0.74131	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	.	.	.	4.85	0.489	0.16854	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8488	0.46759	0.0:0.6444:0.0:0.3556	.	.	.	.	X	411;335	.	ENSP00000323901:Y335X	Y	+	3	2	FZD2	39991587	0.996000	0.38824	0.443000	0.26883	0.746000	0.42486	0.553000	0.23391	-0.113000	0.11958	-1.134000	0.01955	TAC		0.617	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		33	71	33	71	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42636173	42636173	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636173C>T	ENST00000315323.3	+	1	1249	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	373					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.H373Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGTACTTCCACCTGGCCGC	0.662																																						ENST00000315323.3																			1	Substitution - Missense(1)	p.H373Y(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1117-1119)Cac>Tac		frizzled family receptor 2							74.0	72.0	73.0					17																	42636173		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636173C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1117C>T	17.37:g.42636173C>T	ENSP00000323901:p.His373Tyr		Somatic					p.H373Y	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1249	+		Prostate(33;0.0181)	373					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1117C>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.197860	0.79015	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.88975	-2.45	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98124	1.0427	10	0.87932	D	0	.	18.1618	0.89710	0.0:1.0:0.0:0.0	.	373	Q14332	FZD2_HUMAN	Y	449;373	ENSP00000323901:H373Y	ENSP00000323901:H373Y	H	+	1	0	FZD2	39991699	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.808000	0.86044	2.349000	0.79799	0.561000	0.74099	CAC		0.662	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		52	90	52	90	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42636211	42636211	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636211C>T	ENST00000315323.3	+	1	1287	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	385					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I385I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAAGACCATCACCATCCTGG	0.677																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.I385I(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1153-1155)atC>atT		frizzled family receptor 2							69.0	69.0	69.0					17																	42636211		2203	4299	6502	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636211C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1155C>T	17.37:g.42636211C>T			Somatic					p.I385I	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1287	+		Prostate(33;0.0181)	385					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1155C>T	CCDS11484.1																																																																																				0.677	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		53	93	53	93	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42636499	42636499	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636499C>T	ENST00000315323.3	+	1	1575	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	481					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F481F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGCTACTTCTACGAGCAGG	0.647																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.F481F(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1441-1443)ttC>ttT		frizzled family receptor 2							61.0	51.0	54.0					17																	42636499		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636499C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1443C>T	17.37:g.42636499C>T			Somatic					p.F481F	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1575	+		Prostate(33;0.0181)	481					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1443C>T	CCDS11484.1																																																																																				0.647	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		23	36	23	36	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943333	6943333	+	Silent	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr18:6943333C>A	ENST00000389658.3	-	62	9006	c.8913G>T	c.(8911-8913)gtG>gtT	p.V2971V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2971	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATCACAGAGCACAGTGGCGG	0.458																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8911-8913)gtG>gtT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						235.0	202.0	214.0					18																	6943333		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943333C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8913G>T	18.37:g.6943333C>A			Somatic					p.V2971V	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	P25391	LAMA1_HUMAN			62	9006	-		Colorectal(10;0.172)	2971			Laminin G-like 5.			Silent	SNP	ENST00000389658.3	37	c.8913G>T	CCDS32787.1																																																																																				0.458	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	154	5	154	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34180279	34180279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr19:34180279G>A	ENST00000262622.4	+	2	870	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	CHST8_ENST00000438847.3_Missense_Mutation_p.A38T|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.A38T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	38					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.A38T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCA	0.632																																						ENST00000262622.4																			1	Substitution - Missense(1)	p.A38T(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(112-114)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							79.0	81.0	80.0					19																	34180279		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180279G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.112G>A	19.37:g.34180279G>A	ENSP00000262622:p.Ala38Thr		Somatic				CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.A38T|CHST8_ENST00000438847.3_Missense_Mutation_p.A38T	p.A38T	NM_022467.3	NP_071912.2	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			2	870	+	Esophageal squamous(110;0.162)							Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.112G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747801	0.15710	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74526	-0.85;-0.85;-0.85	5.39	-1.04	0.10068	.	0.852592	0.10181	N	0.705866	T	0.48484	0.1502	N	0.12182	0.205	0.09310	N	1	B	0.20550	0.046	B	0.09377	0.004	T	0.27673	-1.0067	10	0.13470	T	0.59	-10.8953	5.8748	0.18822	0.3666:0.0:0.5045:0.1288	.	38	Q9H2A9	CHST8_HUMAN	T	38	ENSP00000392604:A38T;ENSP00000393879:A38T;ENSP00000262622:A38T	ENSP00000262622:A38T	A	+	1	0	CHST8	38872119	0.021000	0.18746	0.721000	0.30653	0.127000	0.20565	0.647000	0.24812	-0.004000	0.14419	0.591000	0.81541	GCC		0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		50	103	50	103	---	---	---	---
FOXA2	3170	broad.mit.edu	37	20	22563512	22563512	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:22563512G>A	ENST00000377115.4	-	3	531	c.350C>T	c.(349-351)gCg>gTg	p.A117V	FOXA2_ENST00000419308.2_Missense_Mutation_p.A123V	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	117					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A117V(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCCCCGGCCGCCTGCCCCCC	0.781																																						ENST00000419308.2																			1	Substitution - Missense(1)	p.A117V(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(367-369)gCg>gTg		forkhead box A2							10.0	13.0	12.0					20																	22563512		2122	4193	6315	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563512G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.350C>T	20.37:g.22563512G>A	ENSP00000366319:p.Ala117Val		Somatic				FOXA2_ENST00000377115.4_Missense_Mutation_p.A117V	p.A123V	NM_021784.4	NP_068556.2	WXS	Illumina GAIIx	Phase_I	Q9Y261	FOXA2_HUMAN			2	552	-	Lung NSC(19;0.188)		123					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.368C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751576	0.49257	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	T;T;T	0.18174	2.23;2.23;2.23	4.13	2.1	0.27182	Fork-head N-terminal (1);	0.216584	0.30940	U	0.008563	T	0.19604	0.0471	L	0.47716	1.5	0.46437	D	0.999048	P;P	0.49185	0.92;0.92	B;P	0.47102	0.413;0.537	T	0.01252	-1.1405	10	0.41790	T	0.15	.	11.8031	0.52139	0.0:0.3411:0.6589:0.0	.	117;123	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	V	117;117;123	ENSP00000366319:A117V;ENSP00000400341:A117V;ENSP00000315955:A123V	ENSP00000315955:A123V	A	-	2	0	FOXA2	22511512	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.260000	0.65490	0.371000	0.24564	-0.201000	0.12746	GCG		0.781	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			11	17	11	17	---	---	---	---
NELFCD	51497	broad.mit.edu	37	20	57564072	57564072	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:57564072T>A	ENST00000344018.3	+	5	554	c.527T>A	c.(526-528)gTt>gAt	p.V176D	NELFCD_ENST00000602795.1_Missense_Mutation_p.V185D			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	176					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.V176D(1)									AACTTCACCGTTAAGGTAGGA	0.408																																						ENST00000602795.1																			1	Substitution - Missense(1)	p.V176D(1)	prostate(1)								c.(553-555)gTt>gAt		negative elongation factor complex member C/D							87.0	78.0	81.0					20																	57564072		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57564072T>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.527T>A	20.37:g.57564072T>A	ENSP00000342300:p.Val176Asp		Somatic				NELFCD_ENST00000344018.3_Missense_Mutation_p.V176D	p.V185D	NM_198976.2	NP_945327.2	WXS	Illumina GAIIx	Phase_I					5	602	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.554T>A		.	.	.	.	.	.	.	.	.	.	T	26.5	4.743772	0.89663	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.995	D;D;P	0.91635	0.999;0.992;0.825	T	0.67852	-0.5563	9	0.87932	D	0	-28.8902	13.4136	0.60956	0.0:0.0:0.0:1.0	.	176;185;176	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	D	176	.	ENSP00000342300:V176D	V	+	2	0	TH1L	56997467	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	5.814000	0.69208	1.974000	0.57490	0.459000	0.35465	GTT		0.408	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		5	89	5	89	---	---	---	---
CXorf58	254158	broad.mit.edu	37	X	23934359	23934359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:23934359T>C	ENST00000379211.3	+	5	886	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	113								p.F113L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GTTTCCACCTTTCATCGTGTT	0.338																																						ENST00000379211.3																			2	Substitution - Missense(2)	p.F113L(2)	prostate(2)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(337-339)Ttc>Ctc		chromosome X open reading frame 58							101.0	86.0	91.0					X																	23934359		2202	4298	6500	SO:0001583	missense	254158							g.chrX:23934359T>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.337T>C	X.37:g.23934359T>C	ENSP00000368511:p.Phe113Leu		Somatic					p.F113L	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	WXS	Illumina GAIIx	Phase_I	Q96LI9	CX058_HUMAN			5	886	+			113						Missense_Mutation	SNP	ENST00000379211.3	37	c.337T>C	CCDS14209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	9.018|9.018	0.984067|0.984067	0.18889|0.18889	.|.	.|.	ENSG00000165182|ENSG00000165182	ENST00000379211|ENST00000435707	T|.	0.28454|.	1.61|.	5.0|5.0	3.81|3.81	0.43845|0.43845	.|.	0.352413|0.352413	0.22693|0.22693	N|N	0.056786|0.056786	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.51422|0.51422	1.61|1.61	0.23959|0.23959	N|N	0.99635|0.99635	P;P|.	0.42941|.	0.655;0.794|.	B;B|.	0.43052|.	0.269;0.406|.	T|T	0.23119|0.23119	-1.0197|-1.0197	10|6	0.27082|.	T|.	0.32|.	-0.3733|-0.3733	9.0467|9.0467	0.36352|0.36352	0.0:0.0:0.1834:0.8166|0.0:0.0:0.1834:0.8166	.|.	113;113|.	B7ZLS7;Q96LI9|.	.;CX058_HUMAN|.	L|S	113|86	ENSP00000368511:F113L|.	ENSP00000368511:F113L|.	F|F	+|+	1|2	0|0	CXorf58|CXorf58	23844280|23844280	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.904000|0.904000	0.53231|0.53231	1.285000|1.285000	0.33261|0.33261	0.563000|0.563000	0.29222|0.29222	0.336000|0.336000	0.21669|0.21669	TTC|TTT		0.338	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		19	7	19	7	---	---	---	---
KLHL13	90293	broad.mit.edu	37	X	117053579	117053579	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:117053579G>C	ENST00000262820.3	-	4	1384	c.475C>G	c.(475-477)Ctt>Gtt	p.L159V	KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371876.1_Missense_Mutation_p.L108V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	159	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.L159V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCATATTAAGAGAAAGCTTT	0.378																																						ENST00000371876.1																			1	Substitution - Missense(1)	p.L159V(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(322-324)Ctt>Gtt		kelch-like family member 13							72.0	75.0	74.0					X																	117053579		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053579G>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.475C>G	X.37:g.117053579G>C	ENSP00000262820:p.Leu159Val		Somatic				KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V|KLHL13_ENST00000262820.3_Missense_Mutation_p.L159V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V	p.L108V			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			3	2743	-			159			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.322C>G	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510853	0.44660	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.07	4.2	0.49525	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	N	0.26130	0.795	0.58432	D	0.999998	P;D;P;D	0.64830	0.924;0.994;0.867;0.972	P;D;P;P	0.68353	0.664;0.957;0.664;0.896	T	0.64931	-0.6291	10	0.09338	T	0.73	.	14.0853	0.64951	0.0:0.0:0.8484:0.1516	.	143;162;153;159	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	108;108;108;108;143;143;162;159;117;108	ENSP00000360949:L108V;ENSP00000360943:L108V;ENSP00000360945:L108V;ENSP00000412640:L108V;ENSP00000444450:L143V;ENSP00000441029:L143V;ENSP00000443191:L162V;ENSP00000262820:L159V;ENSP00000440707:L117V;ENSP00000419803:L108V	ENSP00000262820:L159V	L	-	1	0	KLHL13	116937607	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.800000	0.85949	1.105000	0.41606	-0.382000	0.06688	CTT		0.378	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		6	80	6	80	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59805628	59805629	+	Splice_Site	DEL	AG	AG	-			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:59805628_59805629delAG	ENST00000303721.7	+	3	375		c.e3-1		FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Splice_Site	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTTTTAAAACAGAAAGTTGTAC	0.342																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.e3-1		FGGY carbohydrate kinase domain containing																																				SO:0001630	splice_region_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59805628_59805629delAG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.202-1AG>-	1.37:g.59805628_59805629delAG			Somatic				FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Splice_Site		NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			3	385	+	all_cancers(7;7.36e-05)							B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Splice_Site	DEL	ENST00000303721.7	37		CCDS611.2																																																																																				0.342	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	Intron	9	37	9	37	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345290	235345317	+	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	CACTGGGTGAACAACTCTCCTCTTCAGC	-	rs148934238	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	ENST00000264183.3	-	20	3414_3441	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	c.(2917-2946)gctgaagaggagagttgttcacccagtgtafs	p.AEEESCSPSV973fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	973					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V982L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTAGTTCTACACTGGGTGAACAACTCTCCTCTTCAGCCACAGTCTGC	0.487																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.V982L(1)	lung(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2917-2946)gctgaagaggagagttgttcacccagtgtafs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	1.37:g.235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	ENSP00000264183:p.Ala973fs		Somatic				ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs	p.AEEESCSPSV973fs	NM_016374.5	NP_057458.4	WXS	Illumina GAIIx	Phase_I	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3414_3441	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	973					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	CCDS31061.1																																																																																				0.487	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		21	202	21	202	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425049	179425050	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:179425049_179425050insT	ENST00000591111.1	-	276	81110_81111	c.80886_80887insA	c.(80884-80889)aaaccafs	p.P26963fs	TTN_ENST00000359218.5_Frame_Shift_Ins_p.P19664fs|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P19731fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P19539fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P28604fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P26036fs			Q8WZ42	TITIN_HUMAN	titin	26963	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAACTGGTTTTTTGTTTA	0.406																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85807-85812)aaaccafs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425049_179425050insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80887dupA	2.37:g.179425055_179425055dupT	ENSP00000465570:p.Pro26963fs		Somatic				TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P19539fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P19664fs|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P26963fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P19731fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P26036fs	p.P28604fs	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86033_86034	-			26963			Fibronectin type-III 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.85809_85810insA																																																																																					0.406	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	98	15	98	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234296911	234296912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:234296911_234296912insA	ENST00000264057.2	+	2	177_178	c.165_166insA	c.(166-168)aaafs	p.K56fs	DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Frame_Shift_Ins_p.K12fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	56	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGACCATCATCAAAGAGGGGAT	0.441																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(166-168)aaafs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234296911_234296912insA	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.168dupA	2.37:g.234296914_234296914dupA	ENSP00000264057:p.Lys56fs		Somatic				DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Frame_Shift_Ins_p.K12fs	p.K56fs	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	2	177_178	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	56			PH.		Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.165_166insA	CCDS2504.1																																																																																				0.441	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		15	159	15	159	---	---	---	---
ABHD10	55347	broad.mit.edu	37	3	111705862	111705863	+	Frame_Shift_Ins	INS	-	-	ACCTTAG			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:111705862_111705863insACCTTAG	ENST00000273359.3	+	4	567_568	c.540_541insACCTTAG	c.(541-543)accfs	p.-181fs	ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.-181fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.-24fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10						glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						CAGCTGCAGATACCTTAGTGAC	0.441																																						ENST00000273359.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(541-543)accfs		abhydrolase domain containing 10																																				SO:0001589	frameshift_variant	55347					mitochondrion	serine-type peptidase activity	g.chr3:111705862_111705863insACCTTAG	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.541_547dupACCTTAG	3.37:g.111705863_111705869dupACCTTAG	ENSP00000273359:p.Thr181fs		Somatic				ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.-181fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.-24fs	p.-181fs	NM_018394.2	NP_060864.1	WXS	Illumina GAIIx	Phase_I	Q9NUJ1	ABHDA_HUMAN			4	567_568	+								B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Frame_Shift_Ins	INS	ENST00000273359.3	37	c.540_541insACCTTAG	CCDS2963.1																																																																																				0.441	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		12	134	12	134	---	---	---	---
