#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CSMD2	114784	broad.mit.edu	37	1	34070881	34070881	+	Splice_Site	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:34070881C>T	ENST00000373380.1	-	21	3372		c.e21+1		CSMD2_ENST00000489419.1_5'Flank|CSMD2_ENST00000373381.4_Splice_Site|CSMD2_ENST00000373377.1_Splice_Site|CSMD2_ENST00000373388.2_Splice_Site			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCGACATACCTTCACACTT	0.587																																						uc001bxn.1																			0				ovary(6)|skin(5)|pancreas(1)	12						c.e43+1		CUB and Sushi multiple domains 2							78.0	70.0	73.0					1																	34070881		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34070881C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3151+1G>A	1.37:g.34070881C>T						CSMD2_uc001bxm.1_Splice_Site_p.V2178_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	p.V2180_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			43	6567	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)						B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000373380.1	37	c.6538_splice		.	.	.	.	.	.	.	.	.	.	C	27.9	4.872986	0.91664	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8088	0.92050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD2	33843468	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.818000	0.86416	2.689000	0.91719	0.561000	0.74099	.		0.587	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	Intron
CLSPN	63967	broad.mit.edu	37	1	36228771	36228775	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:36228771_36228775delTTTAC	ENST00000318121.3	-	4	787_791	c.730_734delGTAAA	c.(730-735)gtaaaafs	p.VK244fs	CLSPN_ENST00000520551.1_Frame_Shift_Del_p.VK244fs|CLSPN_ENST00000373220.3_Frame_Shift_Del_p.VK244fs|CLSPN_ENST00000251195.5_Frame_Shift_Del_p.VK244fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	244					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGTGCTTTTTTACTTTGTTTTTT	0.322																																						uc001bzi.2																			0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(730-735)GTAAAAfs		claspin																																				SO:0001589	frameshift_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36228771_36228775delTTTAC	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.730_734delGTAAA	1.37:g.36228771_36228775delTTTAC	ENSP00000312995:p.Val244fs					CLSPN_uc009vux.2_Frame_Shift_Del_p.V244fs	p.V244fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			4	810_814	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	244_245					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Del	DEL	ENST00000318121.3	37	c.730_734delGTAAA	CCDS396.1																																																																																				0.322	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
LRRC8B	23507	broad.mit.edu	37	1	90050043	90050043	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:90050043G>A	ENST00000330947.2	+	5	2194	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	LRRC8B_ENST00000358200.4_Missense_Mutation_p.E612K|LRRC8B_ENST00000439853.1_Missense_Mutation_p.E612K|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	612					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTTGCATGAGTTAGACCT	0.388																																						uc001dni.2																			0				ovary(2)	2						c.(1834-1836)GAG>AAG		leucine rich repeat containing 8 family, member							76.0	78.0	77.0					1																	90050043		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90050043G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1834G>A	1.37:g.90050043G>A	ENSP00000332674:p.Glu612Lys					LRRC8B_uc001dnh.2_Missense_Mutation_p.E612K|LRRC8B_uc001dnj.2_Missense_Mutation_p.E612K	p.E612K	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	2341	+		all_lung(203;0.17)	612			LRR 7.		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1834G>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370745	0.82573	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.56941	0.43;0.43;0.43	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.56949	0.2020	L	0.37561	1.115	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.51647	-0.8679	9	.	.	.	.	19.3323	0.94295	0.0:0.0:1.0:0.0	.	612	Q6P9F7	LRC8B_HUMAN	K	612	ENSP00000332674:E612K;ENSP00000350933:E612K;ENSP00000400704:E612K	.	E	+	1	0	LRRC8B	89822631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.945000	0.87732	2.633000	0.89246	0.655000	0.94253	GAG		0.388	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350	
EPS8L3	79574	broad.mit.edu	37	1	110304367	110304367	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:110304367G>A	ENST00000361965.4	-	2	111	c.5C>T	c.(4-6)tCa>tTa	p.S2L	EPS8L3_ENST00000361852.4_Missense_Mutation_p.S2L|EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S2L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	2						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCTTGACATGTTGAC	0.612																																						uc001dyr.1																			0				ovary(2)|skin(1)	3						c.(4-6)TCA>TTA		epidermal growth factor receptor pathway							67.0	60.0	62.0					1																	110304367		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110304367G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.5C>T	1.37:g.110304367G>A	ENSP00000355255:p.Ser2Leu					EPS8L3_uc001dys.1_Missense_Mutation_p.S2L|EPS8L3_uc001dyq.1_Missense_Mutation_p.S2L|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_5'UTR|EPS8L3_uc009wfo.1_Missense_Mutation_p.S2L	p.S2L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	2	150	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	2					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.5C>T	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129655	0.77549	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.63580	2.29;0.01;-0.05	4.88	4.88	0.63580	.	0.198985	0.44097	D	0.000488	T	0.69351	0.3101	L	0.60455	1.87	0.42167	D	0.99162	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72338	0.93;0.977;0.948;0.951	T	0.73433	-0.3984	10	0.87932	D	0	-22.0636	13.9193	0.63921	0.0:0.0:1.0:0.0	.	2;2;2;2	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	L	2	ENSP00000354551:S2L;ENSP00000358820:S2L;ENSP00000355255:S2L	ENSP00000354551:S2L	S	-	2	0	EPS8L3	110105890	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	5.275000	0.65575	2.403000	0.81681	0.655000	0.94253	TCA		0.612	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
VTCN1	79679	broad.mit.edu	37	1	117699295	117699295	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:117699295G>A	ENST00000369458.3	-	3	424	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.R119W|VTCN1_ENST00000539893.1_Missense_Mutation_p.R21W	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.R116W(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTTTCAGCCGCAAAGAGGCA	0.458																																						uc001ehb.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(346-348)CGG>TGG		V-set domain containing T cell activation							98.0	94.0	95.0					1																	117699295		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117699295G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.346C>T	1.37:g.117699295G>A	ENSP00000358470:p.Arg116Trp					VTCN1_uc001ehc.2_Missense_Mutation_p.R21W|VTCN1_uc009whf.1_Intron	p.R116W	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	418	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	116			Ig-like V-type 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000369458.3	37	c.346C>T	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218462	0.39201	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.67345	-0.26;-0.26;-0.26	6.08	4.96	0.65561	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172268	0.42053	D	0.000775	T	0.42200	0.1192	L	0.59436	1.845	0.27487	N	0.952408	B	0.22909	0.077	B	0.24269	0.052	T	0.47446	-0.9117	10	0.87932	D	0	-21.3003	6.0364	0.19710	0.0:0.0863:0.1754:0.7383	.	116	Q7Z7D3	VTCN1_HUMAN	W	116;119;21	ENSP00000358470:R116W;ENSP00000351899:R119W;ENSP00000444724:R21W	ENSP00000351899:R119W	R	-	1	2	VTCN1	117500818	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.359000	0.44142	1.128000	0.42052	-0.291000	0.09656	CGG		0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
ITGA10	8515	broad.mit.edu	37	1	145528649	145528649	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:145528649T>C	ENST00000369304.3	+	5	621	c.446T>C	c.(445-447)tTc>tCc	p.F149S	ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	149					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTTCATTCCAGCCTCAG	0.572																																						uc001eoa.2																			0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(445-447)TTC>TCC		integrin, alpha 10 precursor							118.0	105.0	109.0					1																	145528649		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145528649T>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.446T>C	1.37:g.145528649T>C	ENSP00000358310:p.Phe149Ser					NBPF10_uc001emp.3_Intron|ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Missense_Mutation_p.F94S	p.F149S	NM_003637	NP_003628	O75578	ITA10_HUMAN			5	522	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		149			FG-GAP 2.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.446T>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445755	0.84101	.	.	ENSG00000143127	ENST00000369304;ENST00000543043	T	0.59364	0.27	5.13	5.13	0.70059	.	0.077392	0.51477	D	0.000081	T	0.67287	0.2877	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.954	T	0.72151	-0.4377	10	0.62326	D	0.03	.	12.8752	0.57986	0.0:0.0:0.0:1.0	.	115;149	F5H3T9;O75578	.;ITA10_HUMAN	S	149;115	ENSP00000358310:F149S	ENSP00000358310:F149S	F	+	2	0	ITGA10	144240006	1.000000	0.71417	0.793000	0.32043	0.995000	0.86356	4.922000	0.63404	1.933000	0.56026	0.459000	0.35465	TTC		0.572	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
DPT	1805	broad.mit.edu	37	1	168670256	168670256	+	Splice_Site	SNP	T	T	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:168670256T>A	ENST00000367817.3	-	3	627	c.538A>T	c.(538-540)Agg>Tgg	p.R180W		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	180	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTTTCTCACCTTTCCACTGCA	0.433																																						uc001gfp.2																			0				ovary(1)	1						c.(538-540)AGG>TGG		dermatopontin precursor							147.0	139.0	141.0					1																	168670256		2203	4300	6503	SO:0001630	splice_region_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168670256T>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.539+1A>T	1.37:g.168670256T>A							p.R180W	NM_001937	NP_001928	Q07507	DERM_HUMAN			3	554	-	all_hematologic(923;0.208)		180			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.538A>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194985	0.78902	.	.	ENSG00000143196	ENST00000367817	T	0.48836	0.8	5.46	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.61703	1.905	0.54753	D	0.999986	D	0.76494	0.999	D	0.79784	0.993	T	0.61695	-0.7010	9	0.72032	D	0.01	-11.0998	11.4757	0.50297	0.0:0.0:0.151:0.849	.	180	Q07507	DERM_HUMAN	W	180	ENSP00000356791:R180W	ENSP00000356791:R180W	R	-	1	2	DPT	166936880	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.230000	0.51286	0.856000	0.35383	0.528000	0.53228	AGG		0.433	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937	Missense_Mutation
HHAT	55733	broad.mit.edu	37	1	210637955	210637955	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:210637955C>T	ENST00000367010.1	+	8	1190	c.963C>T	c.(961-963)ctC>ctT	p.L321L	HHAT_ENST00000308852.6_Silent_p.L276L|HHAT_ENST00000545781.1_Silent_p.L258L|HHAT_ENST00000541565.1_Silent_p.L184L|HHAT_ENST00000537898.1_Silent_p.L256L|HHAT_ENST00000261458.3_Silent_p.L321L|HHAT_ENST00000367009.1_Silent_p.L11L|HHAT_ENST00000391905.3_Silent_p.L321L|HHAT_ENST00000413764.2_Silent_p.L321L|HHAT_ENST00000545154.1_Silent_p.L322L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	321					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACCCGCCCTCCCCCGCTGCG	0.592																																						uc009xcx.2																			0				ovary(2)	2						c.(961-963)CTC>CTT		hedgehog acyltransferase							115.0	105.0	109.0					1																	210637955		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637955C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.963C>T	1.37:g.210637955C>T						HHAT_uc010psq.1_Silent_p.L184L|HHAT_uc001hhz.3_Silent_p.L321L|HHAT_uc010psr.1_Silent_p.L322L|HHAT_uc010pss.1_Silent_p.L276L|HHAT_uc009xcy.2_Silent_p.L256L|HHAT_uc010pst.1_Silent_p.L258L|HHAT_uc010psu.1_Silent_p.L256L|HHAT_uc001hia.3_Silent_p.L11L	p.L321L	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1129	+			321					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.963C>T	CCDS1495.1																																																																																				0.592	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	
CENPF	1063	broad.mit.edu	37	1	214819979	214819979	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:214819979G>A	ENST00000366955.3	+	13	7234	c.7066G>A	c.(7066-7068)Gct>Act	p.A2356T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2452	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGCATGCAGCTCTTGAGGC	0.438																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(7066-7068)GCT>ACT		centromere protein F							43.0	45.0	45.0					1																	214819979		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819979G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7066G>A	1.37:g.214819979G>A	ENSP00000355922:p.Ala2356Thr						p.A2356T	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	7240	+			2452			2-2.|Potential.|2 X 177 AA tandem repeats.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.7066G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202638	0.22121	.	.	ENSG00000117724	ENST00000366955	T	0.42131	0.98	5.03	-8.37	0.00976	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	2.488010	0.01841	N	0.035318	T	0.21718	0.0523	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.18461	-1.0336	10	0.13853	T	0.58	.	14.3001	0.66341	0.0989:0.298:0.6031:0.0	.	2452	P49454	CENPF_HUMAN	T	2356	ENSP00000355922:A2356T	ENSP00000355922:A2356T	A	+	1	0	CENPF	212886602	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.402000	0.02499	-1.699000	0.01416	-0.320000	0.08662	GCT		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
TTC13	79573	broad.mit.edu	37	1	231059600	231059600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:231059600delT	ENST00000366661.4	-	15	1808	c.1801delA	c.(1801-1803)attfs	p.I601fs	TTC13_ENST00000366662.4_Frame_Shift_Del_p.I548fs|TTC13_ENST00000414259.1_Frame_Shift_Del_p.I548fs	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	601										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAATTAATGTGGTTGTTA	0.438																																						uc001huf.3																			0				ovary(1)|skin(1)	2						c.(1801-1803)ATTfs		tetratricopeptide repeat domain 13 isoform a							124.0	122.0	123.0					1																	231059600		2203	4300	6503	SO:0001589	frameshift_variant	79573						binding	g.chr1:231059600delT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1801delA	1.37:g.231059600delT	ENSP00000355621:p.Ile601fs					TTC13_uc009xfi.2_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Frame_Shift_Del_p.I548fs|TTC13_uc009xfk.1_Frame_Shift_Del_p.I491fs	p.I601fs	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	15	1832	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	601					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Frame_Shift_Del	DEL	ENST00000366661.4	37	c.1801delA	CCDS1588.1																																																																																				0.438	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
ANKRD30A	91074	broad.mit.edu	37	10	37508365	37508365	+	Missense_Mutation	SNP	C	C	T	rs116869285		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:37508365C>T	ENST00000602533.1	+	34	3656	c.3557C>T	c.(3556-3558)aCg>aTg	p.T1186M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1186M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T1305M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1242					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGAGTAGTACGATATATAAC	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		20889	0.0		0.001	False		,,,				2504	0.0					uc001iza.1																			0				ovary(7)|breast(1)|skin(1)	9						c.(3556-3558)ACG>ATG		ankyrin repeat domain 30A		C	MET/THR	0,3712		0,0,1856	63.0	56.0	58.0		3557	0.2	0.0	10	dbSNP_132	58	5,8177		0,5,4086	yes	missense	ANKRD30A	NM_052997.2	81	0,5,5942	TT,TC,CC		0.0611,0.0,0.042	probably-damaging	1186/1342	37508365	5,11889	1856	4091	5947	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508365C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3557C>T	10.37:g.37508365C>T	ENSP00000473551:p.Thr1186Met						p.T1186M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3656	+			1242					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3557C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	5.284	0.237862	0.10023	0.0	6.11E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14022	2.54;2.54	2.75	0.202	0.15190	.	.	.	.	.	T	0.10852	0.0265	L	0.46157	1.445	0.09310	N	1	B	0.25772	0.134	B	0.12156	0.007	T	0.25293	-1.0136	9	0.46703	T	0.11	.	5.7896	0.18353	0.0:0.2645:0.0:0.7355	.	1242	Q9BXX3	AN30A_HUMAN	M	1186;1305	ENSP00000354432:T1186M;ENSP00000363792:T1305M	ENSP00000354432:T1186M	T	+	2	0	ANKRD30A	37548371	0.102000	0.21896	0.000000	0.03702	0.001000	0.01503	3.126000	0.50477	-0.163000	0.10946	-0.923000	0.02734	ACG		0.363	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
CHAT	1103	broad.mit.edu	37	10	50873009	50873009	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:50873009T>C	ENST00000337653.2	+	15	2317	c.2164T>C	c.(2164-2166)Tgc>Cgc	p.C722R	CHAT_ENST00000395562.2_Missense_Mutation_p.C640R|CHAT_ENST00000351556.3_Missense_Mutation_p.C604R|CHAT_ENST00000395559.2_Missense_Mutation_p.C604R|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Missense_Mutation_p.C604R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	722					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GAGAGACCTCTGCAGTCTGCT	0.502																																						uc001jhz.2																			0				central_nervous_system(3)	3						c.(2164-2166)TGC>CGC		choline acetyltransferase isoform 2	Choline(DB00122)						103.0	100.0	101.0					10																	50873009		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50873009T>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2164T>C	10.37:g.50873009T>C	ENSP00000337103:p.Cys722Arg					CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C604R|CHAT_uc010qgs.1_Intron	p.C722R	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	2317	+		all_neural(218;0.107)	722					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.2164T>C	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920365	0.73098	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.76	5.76	0.90799	.	0.085956	0.85682	D	0.000000	D	0.97939	0.9322	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98763	1.0725	10	0.72032	D	0.01	-23.956	16.0659	0.80870	0.0:0.0:0.0:1.0	.	722	P28329	CLAT_HUMAN	R	604;604;604;722;640	ENSP00000343486:C604R;ENSP00000345878:C604R;ENSP00000378926:C604R;ENSP00000337103:C722R;ENSP00000378929:C640R	ENSP00000337103:C722R	C	+	1	0	CHAT	50543015	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.963000	0.87922	2.209000	0.71365	0.533000	0.62120	TGC		0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
DLG5	9231	broad.mit.edu	37	10	79577582	79577582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:79577582delA	ENST00000372391.2	-	18	3742	c.3737delT	c.(3736-3738)atgfs	p.M1246fs	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Frame_Shift_Del_p.M906fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1246					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTGGCTCTCATCTCGGAGTA	0.597																																						uc001jzk.2																			0				ovary(5)|breast(3)	8						c.(3736-3738)ATGfs		discs large homolog 5							69.0	49.0	56.0					10																	79577582		2173	4253	6426	SO:0001589	frameshift_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79577582delA	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3737delT	10.37:g.79577582delA	ENSP00000361467:p.Met1246fs					DLG5_uc001jzi.2_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.2_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Frame_Shift_Del_p.M850fs	p.M1246fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		18	3807	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1246					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Del	DEL	ENST00000372391.2	37	c.3737delT	CCDS7353.2																																																																																				0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
PTEN	5728	broad.mit.edu	37	10	89653838	89653838	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:89653838T>C	ENST00000371953.3	+	2	1493	c.136T>C	c.(136-138)Tac>Cac	p.Y46H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	46	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.G44fs*11(1)|p.G44fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGGCGTATACAGGAACAA	0.294		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		49	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.?(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G44fs*8(1)|p.Y46*(1)|p.G44fs*11(1)	prostate(15)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(136-138)TAC>CAC		phosphatase and tensin homolog							113.0	113.0	113.0					10																	89653838		2203	4296	6499	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653838T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.136T>C	10.37:g.89653838T>C	ENSP00000361021:p.Tyr46His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y46H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1167	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	46			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.136T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730096	0.89390	.	.	ENSG00000171862	ENST00000371953	D	0.98666	-5.06	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99379	1.0922	9	.	.	.	-2.423	14.0135	0.64511	0.0:0.0:0.0:1.0	.	46	P60484	PTEN_HUMAN	H	46	ENSP00000361021:Y46H	.	Y	+	1	0	PTEN	89643818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	1.959000	0.56917	0.533000	0.62120	TAC		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR4X2	119764	broad.mit.edu	37	11	48266856	48266856	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:48266856C>T	ENST00000302329.3	+	1	249	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502																																						uc001ngs.1																			0					0						c.(199-201)TCC>TCT		olfactory receptor, family 4, subfamily X,							144.0	139.0	140.0					11																	48266856		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266856C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.201C>T	11.37:g.48266856C>T							p.S67S	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	201	+			67			Helical; Name=2; (Potential).		B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.201C>T	CCDS31486.1																																																																																				0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
CTSW	1521	broad.mit.edu	37	11	65647754	65647754	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:65647754G>A	ENST00000307886.3	+	2	215	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CTSW_ENST00000528419.1_Missense_Mutation_p.E57K	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	57					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGAGCccagaaggtatcac	0.517																																						uc001ogc.1																			0				central_nervous_system(1)	1						c.(169-171)GAA>AAA		cathepsin W preproprotein							75.0	68.0	71.0					11																	65647754		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65647754G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.169G>A	11.37:g.65647754G>A	ENSP00000311300:p.Glu57Lys					CTSW_uc001ogb.1_Missense_Mutation_p.E57K	p.E57K	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	2	211	+			57					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.169G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878337	0.33162	.	.	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	D;D;D	0.86562	-2.14;-2.14;-2.14	5.18	4.27	0.50696	Proteinase inhibitor I29, cathepsin propeptide (2);	0.266825	0.31519	N	0.007502	D	0.83644	0.5299	L	0.47716	1.5	0.32107	N	0.589805	P;P	0.39352	0.571;0.669	B;B	0.42959	0.403;0.355	D	0.84191	0.0445	10	0.34782	T	0.22	.	9.861	0.41114	0.0961:0.0:0.9039:0.0	.	57;57	P56202;E9PI30	CATW_HUMAN;.	K	57;57;56	ENSP00000311300:E57K;ENSP00000436568:E57K;ENSP00000434267:E56K	ENSP00000311300:E57K	E	+	1	0	CTSW	65404330	0.940000	0.31905	0.923000	0.36655	0.067000	0.16453	1.522000	0.35921	1.320000	0.45209	0.591000	0.81541	GAA		0.517	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335	
ATN1	1822	broad.mit.edu	37	12	7046515	7046516	+	Frame_Shift_Ins	INS	-	-	C	rs200827990		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:7046515_7046516insC	ENST00000356654.4	+	5	2322_2323	c.2085_2086insC	c.(2086-2088)cccfs	p.P696fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P696fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	696					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGACCTGGGCCCCTGCCACC	0.723																																						uc001qrw.1																			0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2083-2088)GGGCCCfs		atrophin-1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046515_7046516insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2089dupC	12.37:g.7046519_7046519dupC	ENSP00000349076:p.Pro696fs					ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs	p.G695fs	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	2322_2323	+			695_696					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.2085_2086insC	CCDS31734.1																																																																																				0.723	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
OR6C70	390327	broad.mit.edu	37	12	55863703	55863703	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:55863703C>A	ENST00000327335.4	-	1	219	c.220G>T	c.(220-222)Gct>Tct	p.A74S	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGAATGCAAGCAGTTGTGAAT	0.398																																						uc010spn.1																			0				skin(1)	1						c.(220-222)GCT>TCT		olfactory receptor, family 6, subfamily C,							56.0	55.0	55.0					12																	55863703		2203	4299	6502	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863703C>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.220G>T	12.37:g.55863703C>A	ENSP00000329153:p.Ala74Ser						p.A74S	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	220	-			74			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000327335.4	37	c.220G>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806596	0.16467	.	.	ENSG00000184954	ENST00000327335	T	0.00468	7.22	3.93	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.968998	0.08425	N	0.947769	T	0.00271	0.0008	N	0.12663	0.25	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41016	-0.9532	10	0.45353	T	0.12	.	6.2368	0.20768	0.0:0.7712:0.0:0.2288	.	74	A6NIJ9	O6C70_HUMAN	S	74	ENSP00000329153:A74S	ENSP00000329153:A74S	A	-	1	0	OR6C70	54149970	0.000000	0.05858	0.701000	0.30321	0.386000	0.30323	-0.952000	0.03881	0.998000	0.38996	0.563000	0.77884	GCT		0.398	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1		
IFNG	3458	broad.mit.edu	37	12	68551725	68551725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:68551725G>A	ENST00000229135.3	-	3	465	c.334C>T	c.(334-336)Cga>Tga	p.R112*	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	112					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	AAGTCATCTCGTTTCTTTTTG	0.358																																						uc001stw.1																			0					0						c.(334-336)CGA>TGA		interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						166.0	163.0	164.0					12																	68551725		2203	4300	6503	SO:0001587	stop_gained	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68551725G>A		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.334C>T	12.37:g.68551725G>A	ENSP00000229135:p.Arg112*						p.R112*	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	3	460	-			112					B5BU88|Q53ZV4	Nonsense_Mutation	SNP	ENST00000229135.3	37	c.334C>T	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601797	0.46423	.	.	ENSG00000111537	ENST00000229135	.	.	.	5.38	-10.8	0.00216	.	2.682400	0.01252	N	0.008914	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.1656	3.7338	0.08503	0.1282:0.3304:0.1101:0.4313	.	.	.	.	X	112	.	.	R	-	1	2	IFNG	66837992	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.157000	0.00579	-1.965000	0.01010	-2.055000	0.00403	CGA		0.358	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1		
PXN	5829	broad.mit.edu	37	12	120651689	120651689	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:120651689A>C	ENST00000228307.7	-	11	1606	c.1465T>G	c.(1465-1467)Tca>Gca	p.S489A	PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000397506.3_Missense_Mutation_p.S301A|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000267257.7_Missense_Mutation_p.S503A|PXN_ENST00000458477.2_Missense_Mutation_p.S322A|PXN_ENST00000536957.1_Missense_Mutation_p.S487A|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.S455A|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	489	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGAGGGCTGAGATATAGTTC	0.617																																						uc001txt.2																			0				ovary(1)|breast(1)	2						c.(1465-1467)TCA>GCA		paxillin isoform 1							38.0	46.0	44.0					12																	120651689		2031	4169	6200	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120651689A>C	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1465T>G	12.37:g.120651689A>C	ENSP00000228307:p.Ser489Ala					PXN_uc001txu.2_Missense_Mutation_p.S301A|PXN_uc001txv.2_Missense_Mutation_p.S370A|PXN_uc001txx.2_Missense_Mutation_p.S322A|PXN_uc001txy.2_Missense_Mutation_p.S455A|PXN_uc001txz.2_RNA	p.S489A	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			11	1596	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		489			LIM zinc-binding 3.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.1465T>G	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	A	33	5.265138	0.95399	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.51	5.51	0.81932	Zinc finger, LIM-type (5);	.	.	.	.	D	0.92041	0.7478	M	0.67517	2.055	0.80722	D	1	P;D;P;D	0.54397	0.909;0.958;0.875;0.966	P;P;P;D	0.64687	0.674;0.821;0.781;0.928	D	0.92462	0.5978	9	0.56958	D	0.05	.	15.627	0.76867	1.0:0.0:0.0:0.0	.	455;503;301;489	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	A	322;489;455;487;503;301;117;214	ENSP00000395536:S322A;ENSP00000228307:S489A;ENSP00000391283:S455A;ENSP00000443887:S487A;ENSP00000267257:S503A;ENSP00000380643:S301A	ENSP00000228307:S489A	S	-	1	0	PXN	119136072	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.271000	0.95698	2.101000	0.63845	0.459000	0.35465	TCA		0.617	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859	
N4BP2L2	10443	broad.mit.edu	37	13	33017656	33017656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:33017656G>A	ENST00000504114.1	-	6	1064	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.Q340*|N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.Q325*|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTCCATGTTGATGGCACAGA	0.353																																						uc010abe.1																			0					0						c.(1018-1020)CAA>TAA		phosphonoformate immuno-associated protein 5							38.0	36.0	36.0					13																	33017656		1829	4086	5915	SO:0001587	stop_gained	10443							g.chr13:33017656G>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.973C>T	13.37:g.33017656G>A	ENSP00000427477:p.Gln325*					N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*	p.Q340*	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1040	-		Lung SC(185;0.0262)	Error:Variant_position_missing_in_Q92802_after_alignment					A3KME8	Nonsense_Mutation	SNP	ENST00000504114.1	37	c.1018C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.127813	0.94473	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.67	4.82	0.62117	.	1.495170	0.03704	N	0.249067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.0	7.5411	0.27740	0.2244:0.0:0.7756:0.0	.	.	.	.	X	223;252;325;325;340	.	ENSP00000350104:Q325X	Q	-	1	0	N4BP2L2;RP11-298P3.4	31915656	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	1.096000	0.30976	1.396000	0.46663	0.557000	0.71058	CAA		0.353	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887	
COL4A1	1282	broad.mit.edu	37	13	110817226	110817226	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:110817226C>T	ENST00000375820.4	-	46	4254	c.4133G>A	c.(4132-4134)gGc>gAc	p.G1378D	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1378	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCTTTCGGGCCTGGCAGTCC	0.642																																						uc001vqw.3																			0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(4132-4134)GGC>GAC		alpha 1 type IV collagen preproprotein							14.0	15.0	15.0					13																	110817226		2202	4298	6500	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110817226C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4133G>A	13.37:g.110817226C>T	ENSP00000364979:p.Gly1378Asp					COL4A1_uc010agl.2_Intron	p.G1378D	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		46	4255	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1378			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.4133G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470207	0.63625	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99353	-5.77	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97229	0.9883	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1378	P02462	CO4A1_HUMAN	D	1021;1378;1027	ENSP00000364979:G1378D	ENSP00000364973:G1021D	G	-	2	0	COL4A1	109615227	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.482000	0.81143	2.391000	0.81399	0.655000	0.94253	GGC		0.642	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
ANKDD1A	348094	broad.mit.edu	37	15	65209682	65209682	+	Missense_Mutation	SNP	C	C	T	rs377565868		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:65209682C>T	ENST00000380230.3	+	3	265	c.236C>T	c.(235-237)gCg>gTg	p.A79V	AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A79V|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A79V|ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000319580.8_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	79					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GAGGAGGATGCGGTAGGGGCC	0.642																																						uc002aoa.2																			0				ovary(1)	1						c.(235-237)GCG>GTG		ankyrin repeat and death domain containing 1A		C	VAL/ALA	1,4291		0,1,2145	19.0	22.0	21.0		236	-1.2	0.9	15		21	0,8500		0,0,4250	no	missense	ANKDD1A	NM_182703.3	64	0,1,6395	TT,TC,CC		0.0,0.0233,0.0078	benign	79/523	65209682	1,12791	2146	4250	6396	SO:0001583	missense	348094				signal transduction			g.chr15:65209682C>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.236C>T	15.37:g.65209682C>T	ENSP00000369579:p.Ala79Val					ANKDD1A_uc002anx.1_Missense_Mutation_p.A79V|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Missense_Mutation_p.A49V	p.A79V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			3	265	+			79					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.236C>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655238	0.29425	2.33E-4	0.0	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000483400	T;T;T;T	0.70869	2.38;2.38;2.38;-0.52	4.68	-1.24	0.09435	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.49355	0.1552	L	0.45285	1.41	0.50313	D	0.999864	B;P;P	0.40875	0.008;0.731;0.473	B;B;B	0.35655	0.006;0.207;0.062	T	0.46076	-0.9217	9	0.12430	T	0.62	-2.3113	3.6463	0.08186	0.1771:0.3538:0.0:0.469	.	49;79;79	E7ET26;Q495B1;Q495B1-1	.;AKD1A_HUMAN;.	V	79;79;79;49;45	ENSP00000369579:A79V;ENSP00000350329:A79V;ENSP00000379070:A79V;ENSP00000423548:A45V	ENSP00000326203:A49V	A	+	2	0	ANKDD1A	62996735	0.000000	0.05858	0.903000	0.35520	0.509000	0.34042	-1.984000	0.01487	0.123000	0.18342	-0.378000	0.06908	GCG		0.642	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
MAN2A2	4122	broad.mit.edu	37	15	91454400	91454400	+	Splice_Site	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:91454400G>A	ENST00000559717.1	+	13	2334		c.e13-1		MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000431652.2_Splice_Site|MAN2A2_ENST00000360468.3_Splice_Site			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2						cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAATTCCAGGATGACACTC	0.612																																						uc010bnz.2																			0				large_intestine(2)|ovary(1)	3						c.e13-1		mannosidase, alpha, class 2A, member 2							83.0	61.0	68.0					15																	91454400		2198	4298	6496	SO:0001630	splice_region_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454400G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1876-1G>A	15.37:g.91454400G>A						MAN2A2_uc010boa.2_Splice_Site_p.D668_splice|MAN2A2_uc002bqc.2_Splice_Site_p.D626_splice|MAN2A2_uc010uql.1_Splice_Site_p.D288_splice|MAN2A2_uc010uqm.1_Splice_Site_p.D205_splice|MAN2A2_uc010uqn.1_5'Flank	p.D626_splice	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		13	1991	+	Lung NSC(78;0.0771)|all_lung(78;0.137)							A6NH12|A8K1E8|Q13754	Splice_Site	SNP	ENST00000559717.1	37	c.1876_splice	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669655	0.67814	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1178	0.93348	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN2A2	89255404	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.279000	0.78599	2.600000	0.87896	0.485000	0.47835	.		0.612	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	Intron
CLDN9	9080	broad.mit.edu	37	16	3063836	3063836	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:3063836G>A	ENST00000445369.2	+	1	1380	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	158					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCCCTCAAGCGGGAGCTGGGG	0.701																																						uc010uwo.1																			0					0						c.(472-474)CGG>CAG		claudin 9							24.0	27.0	26.0					16																	3063836		2198	4297	6495	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063836G>A	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.473G>A	16.37:g.3063836G>A	ENSP00000398017:p.Arg158Gln						p.R158Q	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	1380	+			158			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000445369.2	37	c.473G>A	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810921	0.90707	.	.	ENSG00000213937	ENST00000445369	D	0.88509	-2.39	4.45	3.49	0.39957	.	0.000000	0.64402	D	0.000001	D	0.95749	0.8617	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.95271	0.8377	10	0.59425	D	0.04	.	9.834	0.40958	0.1008:0.0:0.8992:0.0	.	158	O95484	CLD9_HUMAN	Q	158	ENSP00000398017:R158Q	ENSP00000398017:R158Q	R	+	2	0	CLDN9	3003837	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.652000	0.98499	1.068000	0.40764	0.563000	0.77884	CGG		0.701	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982	
FAM86A	196483	broad.mit.edu	37	16	5135684	5135684	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:5135684C>T	ENST00000427587.4	-	8	1010	c.942G>A	c.(940-942)ctG>ctA	p.L314L	FAM86A_ENST00000587133.1_Silent_p.L253L|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Silent_p.L280L	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	314						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527																																						uc002cyo.2																			0					0						c.(940-942)CTG>CTA		hypothetical protein LOC196483 isoform 1							155.0	141.0	146.0					16																	5135684		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5135684C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.942G>A	16.37:g.5135684C>T						ALG1_uc002cyj.2_3'UTR|ALG1_uc002cym.2_3'UTR|ALG1_uc002cyn.2_3'UTR|ALG1_uc010bue.2_3'UTR|ALG1_uc010uxy.1_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L	p.L314L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			8	991	-			314					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.942G>A	CCDS10529.1																																																																																				0.527	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400	
FA2H	79152	broad.mit.edu	37	16	74748141	74748141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:74748141delC	ENST00000219368.3	-	7	1135	c.1066delG	c.(1066-1068)gatfs	p.D356fs	FA2H_ENST00000544337.1_Frame_Shift_Del_p.D143fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	356				D -> G (in Ref. 1; BAB71632). {ECO:0000305}.	cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AAACAGTAATCCCACAATTTA	0.582																																						uc002fde.1																			0					0						c.(1066-1068)GATfs		fatty acid 2-hydroxylase							103.0	84.0	90.0					16																	74748141		2195	4294	6489	SO:0001589	frameshift_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74748141delC	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.1066delG	16.37:g.74748141delC	ENSP00000219368:p.Asp356fs					FA2H_uc002fdd.1_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.1_RNA	p.D356fs	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			7	1134	-			356	D -> G (in Ref. 1; BAB71632).				B7Z8T6|O75213|Q96DK1|Q9H1A5	Frame_Shift_Del	DEL	ENST00000219368.3	37	c.1066delG	CCDS10911.1																																																																																				0.582	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306	
AIPL1	23746	broad.mit.edu	37	17	6338338	6338338	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:6338338G>A	ENST00000381129.3	-	1	167	c.87C>T	c.(85-87)acC>acT	p.T29T	AIPL1_ENST00000571740.1_Silent_p.T29T|AIPL1_ENST00000250087.5_Silent_p.T29T|AIPL1_ENST00000575265.1_Silent_p.T29T|AIPL1_ENST00000576776.1_Silent_p.T29T|AIPL1_ENST00000576307.1_Silent_p.T29T|AIPL1_ENST00000570466.1_Silent_p.T29T|AIPL1_ENST00000574506.1_Silent_p.T29T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	29					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCGGGATCCGGTGATGAAGT	0.597																																						uc002gcp.2																			0					0						c.(85-87)ACC>ACT		aryl hydrocarbon receptor interacting							52.0	50.0	50.0					17																	6338338		2203	4300	6503	SO:0001819	synonymous_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6338338G>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.87C>T	17.37:g.6338338G>A						AIPL1_uc002gcq.2_Silent_p.T29T|AIPL1_uc002gcr.2_Silent_p.T29T|AIPL1_uc010clk.2_Silent_p.T29T|AIPL1_uc010cll.2_Silent_p.T29T|AIPL1_uc002gcs.2_Silent_p.T29T	p.T29T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	1	182	-			29					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	c.87C>T	CCDS11075.1																																																																																				0.597	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336	
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KCNJ12	3768	broad.mit.edu	37	17	21319710	21319710	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:21319710C>T	ENST00000583088.1	+	3	1951	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	KCNJ12_ENST00000331718.5_Silent_p.P352P	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	352					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ATGAGGTGCCCTCTACGCCCC	0.567										Prostate(3;0.18)																												uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(1054-1056)CCC>CCT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						127.0	126.0	126.0					17																	21319710		2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319710C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1056C>T	17.37:g.21319710C>T		Prostate(3;0.18)					p.P352P	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1761	+			352			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.1056C>T	CCDS11219.1																																																																																				0.567	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
DYNAP	284254	broad.mit.edu	37	18	52265157	52265157	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:52265157C>A	ENST00000321600.1	+	3	460	c.414C>A	c.(412-414)aaC>aaA	p.N138K	DYNAP_ENST00000585973.1_Missense_Mutation_p.N86K	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	138					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGTGAATAACAAAGGATCGG	0.453																																						uc002lfq.1																			0					0						c.(412-414)AAC>AAA		hypothetical protein LOC284254							145.0	122.0	130.0					18																	52265157		2203	4300	6503	SO:0001583	missense	284254					integral to membrane		g.chr18:52265157C>A	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.414C>A	18.37:g.52265157C>A	ENSP00000315265:p.Asn138Lys					C18orf26_uc002lfp.1_Missense_Mutation_p.N86K	p.N138K	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN		Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)	3	460	+			138						Missense_Mutation	SNP	ENST00000321600.1	37	c.414C>A	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523845	0.27299	.	.	ENSG00000178690	ENST00000321600	T	0.23950	1.88	4.42	-4.9	0.03094	.	1.345620	0.04703	N	0.416261	T	0.16685	0.0401	L	0.44542	1.39	0.09310	N	1	B	0.20550	0.046	B	0.24974	0.057	T	0.25012	-1.0144	10	0.13853	T	0.58	-6.087	2.2077	0.03940	0.1268:0.3539:0.13:0.3893	.	138	Q8N1N2	CR026_HUMAN	K	138	ENSP00000315265:N138K	ENSP00000315265:N138K	N	+	3	2	C18orf26	50416155	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.772000	0.01787	-1.042000	0.03262	-1.087000	0.02190	AAC		0.453	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629	
SERPINB12	89777	broad.mit.edu	37	18	61223463	61223463	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:61223463G>A	ENST00000269491.1	+	1	71	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R24H	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	24					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAGATGATCGTCATAAAAAC	0.393																																						uc010xen.1																			0					0						c.(70-72)CGT>CAT		serine (or cysteine) proteinase inhibitor, clade							235.0	229.0	231.0					18																	61223463		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61223463G>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.71G>A	18.37:g.61223463G>A	ENSP00000269491:p.Arg24His					SERPINB12_uc010xeo.1_Missense_Mutation_p.R24H	p.R24H	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			1	71	+			24					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.71G>A	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	3.013	-0.203522	0.06180	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84516	-1.86;-1.86	5.4	-10.1	0.00402	Serpin domain (3);	3.522370	0.00357	N	0.000020	T	0.69726	0.3143	N	0.16743	0.435	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.001	T	0.58081	-0.7699	10	0.48119	T	0.1	.	6.9248	0.24410	0.6054:0.2027:0.0908:0.1011	.	24;24	Q3SYB4;Q96P63	.;SPB12_HUMAN	H	24	ENSP00000269491:R24H;ENSP00000372218:R24H	ENSP00000269491:R24H	R	+	2	0	SERPINB12	59374443	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.643000	0.00204	-1.752000	0.01325	-1.084000	0.02203	CGT		0.393	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	
ADAMTS10	81794	broad.mit.edu	37	19	8661023	8661023	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661023A>G	ENST00000597188.1	-	11	1541	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.I424T	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	424	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCATGGTAATGTGGGCAGC	0.592																																						uc002mkj.1																			0				pancreas(2)|skin(2)	4						c.(1270-1272)ATT>ACT		ADAM metallopeptidase with thrombospondin type 1							113.0	106.0	108.0					19																	8661023		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661023A>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1271T>C	19.37:g.8661023A>G	ENSP00000471851:p.Ile424Thr					ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	p.I424T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			11	1545	-			424			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1271T>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914795	0.72983	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.07114	3.22	4.27	4.27	0.50696	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.063909	0.64402	D	0.000011	T	0.16300	0.0392	L	0.37507	1.11	0.58432	D	0.999999	B;D	0.53885	0.452;0.963	B;P	0.59825	0.378;0.864	T	0.00912	-1.1517	10	0.87932	D	0	.	12.7308	0.57197	1.0:0.0:0.0:0.0	.	178;424	Q59FE5;Q9H324	.;ATS10_HUMAN	T	424;178	ENSP00000270328:I424T	ENSP00000270328:I424T	I	-	2	0	ADAMTS10	8567023	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.729000	0.91490	1.790000	0.52503	0.260000	0.18958	ATT		0.592	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
ADAMTS10	81794	broad.mit.edu	37	19	8661031	8661031	+	Silent	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661031A>G	ENST00000597188.1	-	11	1533	c.1263T>C	c.(1261-1263)gcT>gcC	p.A421A	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.A421A	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	421	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAATGTGGGCAGCCATGAGCT	0.592																																						uc002mkj.1																			0				pancreas(2)|skin(2)	4						c.(1261-1263)GCT>GCC		ADAM metallopeptidase with thrombospondin type 1							113.0	107.0	109.0					19																	8661031		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661031A>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1263T>C	19.37:g.8661031A>G						ADAMTS10_uc002mkk.1_Silent_p.A53A	p.A421A	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			11	1537	-			421			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.1263T>C	CCDS12206.1																																																																																				0.592	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
KLF1	10661	broad.mit.edu	37	19	12996209	12996209	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:12996209G>A	ENST00000264834.4	-	2	875	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	279					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCACGTGTGCGCTGCCTGC	0.692																																						uc002mvo.2																			0					0						c.(835-837)CAC>TAC		erythroid Kruppel-like factor							13.0	13.0	13.0					19																	12996209		2195	4291	6486	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12996209G>A	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.835C>T	19.37:g.12996209G>A	ENSP00000264834:p.His279Tyr						p.H279Y	NM_006563	NP_006554	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	2	898	-		Hepatocellular(1079;0.137)	279			C2H2-type 1.		Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.835C>T	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075915	0.94000	.	.	ENSG00000105610	ENST00000264834	D	0.96716	-4.1	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000366	D	0.97854	0.9295	M	0.81614	2.55	0.50313	D	0.99986	D	0.89917	1.0	D	0.91635	0.999	D	0.98225	1.0480	10	0.59425	D	0.04	.	14.4314	0.67254	0.0:0.0:1.0:0.0	.	279	Q13351	KLF1_HUMAN	Y	279	ENSP00000264834:H279Y	ENSP00000264834:H279Y	H	-	1	0	KLF1	12857209	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	7.674000	0.83992	2.257000	0.74773	0.561000	0.74099	CAC		0.692	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563	
ZNF208	7757	broad.mit.edu	37	19	22155610	22155610	+	Silent	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:22155610A>G	ENST00000397126.4	-	4	2374	c.2226T>C	c.(2224-2226)atT>atC	p.I742I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	742					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.363																																						uc002nqp.2																			0				ovary(5)|skin(2)	7						c.(1924-1926)ATT>ATC		zinc finger protein 208							45.0	48.0	47.0					19																	22155610		2066	4224	6290	SO:0001819	synonymous_variant	7757							g.chr19:22155610A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2226T>C	19.37:g.22155610A>G						ZNF208_uc002nqo.1_Intron	p.I642I	NM_007153	NP_009084					5	2075	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1926T>C	CCDS54240.1																																																																																				0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
RAB4B	53916	broad.mit.edu	37	19	41289974	41289974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:41289974G>A	ENST00000594800.1	+	5	584	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.E142K|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.E142K|RAB4B-EGLN2_ENST00000601949.1_Intron			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	142					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTTGCCCAGGAGAATGGTGA	0.627																																						uc002opd.1																			0				skin(1)	1						c.(424-426)GAG>AAG		ras-related GTP-binding protein 4b							36.0	32.0	34.0					19																	41289974		2203	4300	6503	SO:0001583	missense	53916				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:41289974G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.424G>A	19.37:g.41289974G>A	ENSP00000470246:p.Glu142Lys					RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.E168K	p.E142K	NM_016154	NP_057238	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	534	+			142					P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.424G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237597	0.58886	.	.	ENSG00000167578	ENST00000357052	T	0.76839	-1.05	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.77611	0.4156	N	0.20986	0.625	0.80722	D	1	D;B	0.64830	0.994;0.216	P;B	0.57548	0.823;0.189	T	0.78529	-0.2169	10	0.40728	T	0.16	.	16.8338	0.85951	0.0:0.0:1.0:0.0	.	177;142	P61018-2;P61018	.;RAB4B_HUMAN	K	142	ENSP00000349560:E142K	ENSP00000349560:E142K	E	+	1	0	RAB4B	45981814	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	9.728000	0.98792	2.259000	0.74868	0.393000	0.25936	GAG		0.627	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154	
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51629378C>T	ENST00000250360.3	+	3	808	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_ENST00000440804.3_Silent_p.D247D	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597																																						uc002pvu.2																			0				skin(1)	1						c.(739-741)GAC>GAT		sialic acid binding Ig-like lectin 9 precursor							103.0	91.0	95.0					19																	51629378		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629378C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.741C>T	19.37:g.51629378C>T						SIGLEC9_uc010yct.1_Silent_p.D247D	p.D247D	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	808	+		all_neural(266;0.0529)	247			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.741C>T	CCDS12825.1																																																																																				0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
CD33	945	broad.mit.edu	37	19	51728757	51728757	+	Silent	SNP	C	C	T	rs141721735		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51728757C>T	ENST00000262262.4	+	2	342	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Silent_p.D107D	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	107	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCATCGTAGACGCCAGGAGGA	0.507																																						uc002pwa.2																			0					0						c.(319-321)GAC>GAT		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)	C	,,	1,4405		0,1,2202	56.0	59.0	58.0		,321,321	-6.3	0.0	19	dbSNP_134	58	1,8599		0,1,4299	no	intron,coding-synonymous,coding-synonymous	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	,107/311,107/365	51728757	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728757C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.321C>T	19.37:g.51728757C>T						CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.D107D	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	361	+		all_neural(266;0.0199)	107			Extracellular (Potential).|Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	c.321C>T	CCDS33084.1																																																																																				0.507	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	
ZNF841	284371	broad.mit.edu	37	19	52568811	52568811	+	Missense_Mutation	SNP	C	C	T	rs375361341		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:52568811C>T	ENST00000426391.2	-	5	2527	c.1976G>A	c.(1975-1977)cGt>cAt	p.R659H	ZNF841_ENST00000389534.4_Missense_Mutation_p.R775H|CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R775H|ZNF841_ENST00000359973.2_Missense_Mutation_p.R351H			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAGCGATAACGGAAGACCTT	0.438																																						uc002pyl.1																			0					0						c.(1975-1977)CGT>CAT		zinc finger protein 841		C	HIS/ARG	1,1383		0,1,691	51.0	47.0	48.0		2324	-4.0	0.0	19		48	0,3182		0,0,1591	no	missense	ZNF841	NM_001136499.1	29	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	probably-damaging	775/925	52568811	1,4565	692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568811C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1976G>A	19.37:g.52568811C>T	ENSP00000415453:p.Arg659His					ZNF841_uc010ydh.1_Missense_Mutation_p.R775H|ZNF841_uc010epk.1_Missense_Mutation_p.R351H	p.R659H	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			5	2528	-			659			C2H2-type 19.		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1976G>A		.	.	.	.	.	.	.	.	.	.	C	13.95	2.390400	0.42410	7.23E-4	0.0	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.18016	2.24;2.24;2.24	2.02	-4.04	0.04010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14960	0.0361	L	0.27053	0.805	0.09310	N	1	D;B;D	0.71674	0.995;0.162;0.998	P;B;P	0.56788	0.784;0.012;0.806	T	0.05920	-1.0856	9	0.56958	D	0.05	.	0.3786	0.00391	0.2927:0.1912:0.2908:0.2252	.	775;351;659	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	H	775;659;351	ENSP00000374185:R775H;ENSP00000415453:R659H;ENSP00000353060:R351H	ENSP00000353060:R351H	R	-	2	0	ZNF841	57260623	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-6.477000	0.00064	-1.491000	0.01840	0.313000	0.20887	CGT		0.438	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155	
M1AP	130951	broad.mit.edu	37	2	74787316	74787316	+	Missense_Mutation	SNP	G	G	A	rs540346738		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:74787316G>A	ENST00000290536.5	-	9	1500	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	M1AP_ENST00000536235.1_Missense_Mutation_p.R462W|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.R111W|M1AP_ENST00000409585.1_Missense_Mutation_p.R462W	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	462					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGGTGGAGCCGCCCCTGAGGC	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17515	0.0		0.0	False		,,,				2504	0.0					uc002smy.2																			0				ovary(1)|pancreas(1)	2						c.(1384-1386)CGG>TGG		hypothetical protein LOC130951							72.0	67.0	69.0					2																	74787316		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74787316G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1384C>T	2.37:g.74787316G>A	ENSP00000290536:p.Arg462Trp					C2orf65_uc010ysa.1_Missense_Mutation_p.R462W|C2orf65_uc010ffp.2_Missense_Mutation_p.R111W|C2orf65_uc002smx.2_Missense_Mutation_p.R218W	p.R462W	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			9	1501	-			462					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1384C>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764991	0.69878	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.34859	1.35;1.34;1.34	5.41	3.53	0.40419	.	0.147478	0.44097	D	0.000498	T	0.49270	0.1547	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.999	P;D;P;P	0.68765	0.809;0.96;0.809;0.809	T	0.30416	-0.9979	10	0.72032	D	0.01	-17.9805	6.8663	0.24094	0.0897:0.0:0.7369:0.1733	.	462;111;462;218	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	W	462;462;462;111	ENSP00000290536:R462W;ENSP00000386793:R462W;ENSP00000445662:R462W	ENSP00000290536:R462W	R	-	1	2	C2orf65	74640824	0.037000	0.19845	0.836000	0.33094	0.944000	0.59088	1.869000	0.39519	1.462000	0.47948	0.561000	0.74099	CGG		0.607	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804	
AMMECR1L	83607	broad.mit.edu	37	2	128631554	128631554	+	Silent	SNP	C	C	A	rs563618984	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:128631554C>A	ENST00000272647.5	-	3	515	c.255G>T	c.(253-255)gcG>gcT	p.A85A	AMMECR1L_ENST00000393001.1_Silent_p.A85A	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	85										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GAGGGCTCAGCGCTCCCGATG	0.547																																						uc002tpl.2																			0				central_nervous_system(1)	1						c.(253-255)GCG>GCT		AMME chromosomal region gene 1-like							162.0	153.0	156.0					2																	128631554		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128631554C>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.255G>T	2.37:g.128631554C>A						AMMECR1L_uc002tpm.2_Silent_p.A85A	p.A85A	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	506	-	Colorectal(110;0.1)		85					B4E276	Silent	SNP	ENST00000272647.5	37	c.255G>T	CCDS2152.1																																																																																				0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445	
LPIN3	64900	broad.mit.edu	37	20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:39977494C>T	ENST00000373257.3	+	4	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	175					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567																																						uc002xjx.2																			0				ovary(3)|central_nervous_system(1)	4						c.(523-525)TCC>TTC		lipin 3							33.0	32.0	32.0					20																	39977494		2203	4299	6502	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977494C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.524C>T	20.37:g.39977494C>T	ENSP00000362354:p.Ser175Phe					LPIN3_uc010ggh.2_Missense_Mutation_p.S175F|LPIN3_uc010zwf.1_RNA	p.S175F	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			4	615	+		Myeloproliferative disorder(115;0.000739)	175					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.524C>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841275	0.16891	.	.	ENSG00000132793	ENST00000373257	T	0.81415	-1.49	4.64	3.7	0.42460	.	1.070240	0.07226	N	0.861757	T	0.72053	0.3413	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.594;0.877	B;B	0.41723	0.308;0.365	T	0.61860	-0.6976	9	.	.	.	-17.252	6.5012	0.22170	0.0:0.8335:0.0:0.1665	.	175;175	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	F	175	ENSP00000362354:S175F	.	S	+	2	0	LPIN3	39410908	0.001000	0.12720	0.249000	0.24280	0.031000	0.12232	1.159000	0.31749	2.580000	0.87095	0.655000	0.94253	TCC		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	rs199672858	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:43837052C>T	ENST00000372781.3	+	2	1171	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													A|||	2	0.000399361	0.0008	0.0	5008	,	,		22478	0.0		0.001	False		,,,				2504	0.0					uc002xni.2																			0				skin(2)	2						c.(1114-1116)CGC>TGC		semenogelin I preproprotein							77.0	71.0	73.0					20																	43837052		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837052C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>T	20.37:g.43837052C>T	ENSP00000361867:p.Arg372Cys					SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	p.R372C	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	1171	+		Myeloproliferative disorder(115;0.0122)	372			58 AA repeat 2.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1114C>T	CCDS13345.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.44	1.640642	0.29157	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06528	3.29;3.29	0.951	-1.9	0.07665	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.27498	0.18;0.109	B;B	0.15052	0.01;0.012	T	0.39603	-0.9606	9	0.72032	D	0.01	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	C	312;372	ENSP00000244069:R312C;ENSP00000361867:R372C	ENSP00000244069:R312C	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
ARFGEF2	10564	broad.mit.edu	37	20	47605879	47605879	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47605879C>A	ENST00000371917.4	+	19	2591	c.2591C>A	c.(2590-2592)gCt>gAt	p.A864D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	864					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGCAAATGGCTAAAACAGCC	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			0				breast(3)|upper_aerodigestive_tract(1)	4						c.(2590-2592)GCT>GAT		ADP-ribosylation factor guanine							68.0	66.0	67.0					20																	47605879		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605879C>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2591C>A	20.37:g.47605879C>A	ENSP00000360985:p.Ala864Asp					ARFGEF2_uc010zyf.1_Missense_Mutation_p.A157D	p.A864D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		19	2743	+			864					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2591C>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707434	0.89018	.	.	ENSG00000124198	ENST00000371917	T	0.50001	0.76	5.6	4.63	0.57726	Armadillo-type fold (1);	0.057843	0.64402	D	0.000004	T	0.68054	0.2959	M	0.83118	2.625	0.80722	D	1	D	0.62365	0.991	P	0.59288	0.855	T	0.75331	-0.3355	10	0.72032	D	0.01	.	16.6039	0.84823	0.0:0.8696:0.1304:0.0	.	864	Q9Y6D5	BIG2_HUMAN	D	864	ENSP00000360985:A864D	ENSP00000360985:A864D	A	+	2	0	ARFGEF2	47039286	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.776000	0.85560	1.432000	0.47375	0.563000	0.77884	GCT		0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ZNFX1	57169	broad.mit.edu	37	20	47865786	47865786	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47865786T>G	ENST00000396105.1	-	14	4021	c.3775A>C	c.(3775-3777)Atg>Ctg	p.M1259L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M1259L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1259			M -> I (in dbSNP:rs6512577).				metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCCGGAGCATGGGGCCTATT	0.527																																						uc002xui.2																			0				ovary(2)	2						c.(3775-3777)ATG>CTG		zinc finger, NFX1-type containing 1							72.0	71.0	71.0					20																	47865786		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865786T>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3775A>C	20.37:g.47865786T>G	ENSP00000379412:p.Met1259Leu						p.M1259L	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4022	-			1259					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3775A>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832530	0.02713	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.85861	-2.04;-2.04	6.17	-3.81	0.04294	.	0.790063	0.12288	N	0.482275	T	0.63450	0.2512	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52902	-0.8513	10	0.10902	T	0.67	-0.0137	9.1026	0.36678	0.3029:0.5482:0.0:0.1489	.	1259	Q9P2E3	ZNFX1_HUMAN	L	1259	ENSP00000360817:M1259L;ENSP00000379412:M1259L	ENSP00000360817:M1259L	M	-	1	0	ZNFX1	47299193	0.009000	0.17119	0.000000	0.03702	0.231000	0.25187	0.409000	0.21082	-0.591000	0.05859	-0.250000	0.11733	ATG		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
MX2	4600	broad.mit.edu	37	21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:42771150G>A	ENST00000330714.3	+	10	1484	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	434					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373																																						uc002yzf.1																			0				ovary(2)	2						c.(1300-1302)GAA>AAA		myxovirus resistance protein 2							76.0	79.0	78.0					21																	42771150		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42771150G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1300G>A	21.37:g.42771150G>A	ENSP00000333657:p.Glu434Lys					MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	p.E434K	NM_002463	NP_002454	P20592	MX2_HUMAN			10	1404	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	434					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1300G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	8.948	0.967428	0.18659	.	.	ENSG00000183486	ENST00000330714	T	0.72615	-0.67	3.96	0.626	0.17670	Dynamin central domain (1);	0.841727	0.10738	N	0.639810	T	0.49525	0.1562	L	0.38838	1.175	0.09310	N	1	P	0.35600	0.511	B	0.36534	0.227	T	0.37478	-0.9704	10	0.06625	T	0.88	-5.8608	0.5711	0.00696	0.2395:0.1957:0.3645:0.2003	.	434	P20592	MX2_HUMAN	K	434	ENSP00000333657:E434K	ENSP00000333657:E434K	E	+	1	0	MX2	41693020	0.009000	0.17119	0.001000	0.08648	0.945000	0.59286	0.476000	0.22180	0.364000	0.24374	0.491000	0.48974	GAA		0.373	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
KRTAP10-8	386681	broad.mit.edu	37	21	46032419	46032419	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:46032419C>T	ENST00000334662.2	+	1	424	c.402C>T	c.(400-402)tgC>tgT	p.C134C	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	134	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCGTGTGCTGCGTGTCCATCT	0.627																																						uc002zfo.1																			0				large_intestine(1)|breast(1)	2						c.(400-402)TGC>TGT		keratin associated protein 10-8							176.0	139.0	152.0					21																	46032419		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032419C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.402C>T	21.37:g.46032419C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C134C	NM_198695	NP_941968	P60410	KR108_HUMAN			1	424	+			134			19 X 5 AA repeats of C-C-X(3).|8.		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.402C>T	CCDS13713.1																																																																																				0.627	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695	
PI4KA	5297	broad.mit.edu	37	22	21174060	21174060	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr22:21174060G>C	ENST00000572273.1	-	6	714	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	PI4KA_ENST00000255882.6_Missense_Mutation_p.L220V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	162					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCTCTTCCAGGACACGGAGG	0.522																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(484-486)CTG>GTG		phosphatidylinositol 4-kinase type 3 alpha							188.0	166.0	174.0					22																	21174060		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21174060G>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.484C>G	22.37:g.21174060G>C	ENSP00000458238:p.Leu162Val					PI4KA_uc010gsq.1_Missense_Mutation_p.L220V	p.L162V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		6	715	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	162					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.484C>G		.	.	.	.	.	.	.	.	.	.	G	11.44	1.638859	0.29157	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.89	4.89	0.63831	.	0.233607	0.44688	D	0.000429	T	0.39627	0.1085	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.16335	-1.0406	9	0.26408	T	0.33	-7.433	18.6172	0.91306	0.0:0.0:1.0:0.0	.	220;162	D3DX33;P42356	.;PI4KA_HUMAN	V	162	.	ENSP00000255882:L162V	L	-	1	2	PI4KA	19504060	1.000000	0.71417	0.637000	0.29366	0.807000	0.45602	2.351000	0.44071	2.702000	0.92279	0.557000	0.71058	CTG		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
FAM86DP	692099	broad.mit.edu	37	3	75482023	75482023	+	lincRNA	SNP	T	T	C	rs375621562		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr3:75482023T>C	ENST00000608169.1	+	0	0				FAM86DP_ENST00000459803.1_RNA																							TTCTAAGCTCTGTGTGGACGG	0.488																																						uc003dpp.3																			0					0						c.e2-1		RecName: Full=Protein FAM86B1;																																						692099							g.chr3:75482023T>C																													3.37:g.75482023T>C						FAM86D_uc003dpo.3_Splice_Site|FAM86D_uc003dps.3_Splice_Site|FAM86D_uc003dpq.3_Splice_Site|FAM86D_uc003dpr.3_Splice_Site		NR_024241						2	199	-									Splice_Site	SNP	ENST00000608169.1	37	c.-160_splice																																																																																					0.488	RP11-803B1.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471513.1		
FRAS1	80144	broad.mit.edu	37	4	79385647	79385647	+	Silent	SNP	C	C	T	rs150936204	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:79385647C>T	ENST00000264895.6	+	49	7379	c.6939C>T	c.(6937-6939)ccC>ccT	p.P2313P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2313					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTCGCTGCCCGTCGTACAGA	0.537													C|||	5	0.000998403	0.0	0.0	5008	,	,		22120	0.0		0.001	False		,,,				2504	0.0041					uc003hlb.2																			0				large_intestine(5)	5						c.(6937-6939)CCC>CCT		Fraser syndrome 1		C		0,4154		0,0,2077	133.0	127.0	129.0		6939	-1.9	0.0	4	dbSNP_134	129	5,8441		0,5,4218	no	coding-synonymous	FRAS1	NM_025074.6		0,5,6295	TT,TC,CC		0.0592,0.0,0.0397		2313/4013	79385647	5,12595	2077	4223	6300	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79385647C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6939C>T	4.37:g.79385647C>T							p.P2313P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			49	7379	+			2312			CSPG 11.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.6939C>T	CCDS54771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.608	0.112930	0.08831	0.0	5.92E-4	ENSG00000138759	ENST00000512123	.	.	.	5.48	-1.89	0.07689	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	0.7318	0.00958	0.1914:0.2563:0.1881:0.3642	.	.	.	.	C	542	.	.	R	+	1	0	FRAS1	79604671	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.720000	0.01871	-0.869000	0.04052	-0.133000	0.14855	CGT		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
POU4F2	5458	broad.mit.edu	37	4	147561389	147561389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:147561389C>T	ENST00000281321.3	+	2	907	c.659C>T	c.(658-660)cCg>cTg	p.P220L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	220					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTCACGCGCCGCACATGGCC	0.726																																						uc003ikv.2																			0				breast(1)	1						c.(658-660)CCG>CTG		Brn3b POU domain transcription factor							11.0	12.0	12.0					4																	147561389		2192	4274	6466	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561389C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.659C>T	4.37:g.147561389C>T	ENSP00000281321:p.Pro220Leu						p.P220L	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	907	+	all_hematologic(180;0.151)		220					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.659C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331037	0.41297	.	.	ENSG00000151615	ENST00000281321	D	0.83335	-1.71	5.52	5.52	0.82312	.	0.292594	0.37955	N	0.001878	T	0.68723	0.3032	N	0.08118	0	0.80722	D	1	B	0.27351	0.176	B	0.12837	0.008	T	0.65088	-0.6253	10	0.25751	T	0.34	.	19.057	0.93069	0.0:1.0:0.0:0.0	.	220	Q12837	PO4F2_HUMAN	L	220	ENSP00000281321:P220L	ENSP00000281321:P220L	P	+	2	0	POU4F2	147780839	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	7.739000	0.84976	2.609000	0.88269	0.462000	0.41574	CCG		0.726	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
NR3C2	4306	broad.mit.edu	37	4	149357273	149357273	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:149357273C>T	ENST00000358102.3	-	2	1102	c.740G>A	c.(739-741)aGg>aAg	p.R247K	NR3C2_ENST00000355292.3_Missense_Mutation_p.R247K|NR3C2_ENST00000512865.1_Missense_Mutation_p.R247K|NR3C2_ENST00000344721.4_Missense_Mutation_p.R247K|NR3C2_ENST00000511528.1_Missense_Mutation_p.R247K	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	247	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCTGTGCGACCTGGAGCCTCG	0.532																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			0				large_intestine(1)	1						c.(739-741)AGG>AAG		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						82.0	84.0	83.0					4																	149357273		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357273C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.740G>A	4.37:g.149357273C>T	ENSP00000350815:p.Arg247Lys					NR3C2_uc003ilk.3_Missense_Mutation_p.R247K|NR3C2_uc010iph.2_RNA	p.R247K	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1074	-	all_hematologic(180;0.151)		247			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.740G>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674940	0.29783	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.07;-2.08;-2.49	4.86	3.87	0.44632	.	0.486354	0.24568	N	0.037402	T	0.77691	0.4168	N	0.14661	0.345	0.24700	N	0.993268	B;B	0.16166	0.009;0.016	B;B	0.21151	0.013;0.033	T	0.62011	-0.6944	9	.	.	.	.	10.3924	0.44181	0.4363:0.5637:0.0:0.0	.	247;247	B0ZBF5;B0ZBF6	.;.	K	247	ENSP00000341390:R247K;ENSP00000347441:R247K;ENSP00000350815:R247K;ENSP00000423510:R247K;ENSP00000343907:R247K;ENSP00000421481:R247K	.	R	-	2	0	NR3C2	149576723	0.998000	0.40836	0.965000	0.40720	0.987000	0.75469	1.695000	0.37763	2.392000	0.81423	0.591000	0.81541	AGG		0.532	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
FHDC1	85462	broad.mit.edu	37	4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	rs149221149		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:153881733C>T	ENST00000511601.1	+	5	868	c.680C>T	c.(679-681)gCg>gTg	p.A227V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	227	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363																																						uc003inf.2																			0				large_intestine(1)|ovary(1)	2						c.(679-681)GCG>GTG		FH2 domain containing 1		C	VAL/ALA	0,4406		0,0,2203	112.0	108.0	109.0		680	4.7	0.0	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense	FHDC1	NM_033393.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	227/1144	153881733	2,13004	2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153881733C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.680C>T	4.37:g.153881733C>T	ENSP00000427567:p.Ala227Val						p.A227V	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			4	755	+	all_hematologic(180;0.093)		227			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.680C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514589	0.44763	0.0	2.33E-4	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.18174	2.23;2.23	5.6	4.74	0.60224	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.878418	0.10250	N	0.697271	T	0.30355	0.0762	M	0.79693	2.465	0.09310	N	1	D	0.54964	0.969	P	0.44561	0.453	T	0.25467	-1.0131	10	0.54805	T	0.06	.	14.4559	0.67416	0.2676:0.7324:0.0:0.0	.	227	Q9C0D6	FHDC1_HUMAN	V	227	ENSP00000427567:A227V;ENSP00000260008:A227V	ENSP00000260008:A227V	A	+	2	0	FHDC1	154101183	0.432000	0.25554	0.005000	0.12908	0.824000	0.46624	2.167000	0.42415	1.452000	0.47756	0.655000	0.94253	GCG		0.363	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
PLEKHG4B	153478	broad.mit.edu	37	5	143328	143328	+	Silent	SNP	C	C	T	rs571906695	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:143328C>T	ENST00000283426.6	+	2	626	c.576C>T	c.(574-576)gaC>gaT	p.D192D	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	192							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGTGCTGGACGTCAGTCAGG	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		18986	0.002		0.0	False		,,,				2504	0.0					uc003jak.2																			0				skin(2)	2						c.(574-576)GAC>GAT		pleckstrin homology domain containing, family G							38.0	44.0	42.0					5																	143328		2202	4299	6501	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:143328C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.576C>T	5.37:g.143328C>T							p.D192D	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	2	626	+			192						Silent	SNP	ENST00000283426.6	37	c.576C>T	CCDS34124.1																																																																																				0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
FTMT	94033	broad.mit.edu	37	5	121187738	121187738	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:121187738C>T	ENST00000321339.1	+	1	89	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	27					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCTGCTTCGCGCTCCCGCTG	0.741																																						uc003kss.2																			0				ovary(1)	1						c.(79-81)GCG>GTG		ferritin mitochondrial precursor							12.0	14.0	14.0					5																	121187738		2195	4280	6475	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187738C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.80C>T	5.37:g.121187738C>T	ENSP00000313691:p.Ala27Val						p.A27V	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	89	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	27						Missense_Mutation	SNP	ENST00000321339.1	37	c.80C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455249	0.26161	.	.	ENSG00000181867	ENST00000321339	T	0.67523	-0.27	3.06	-2.85	0.05734	.	.	.	.	.	T	0.44138	0.1279	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	9	0.62326	D	0.03	.	0.1839	0.00126	0.3309:0.2086:0.1437:0.3167	.	27	Q8N4E7	FTMT_HUMAN	V	27	ENSP00000313691:A27V	ENSP00000313691:A27V	A	+	2	0	FTMT	121215637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.163000	0.09997	-0.721000	0.04929	-0.188000	0.12872	GCG		0.741	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
PCDHA2	56146	broad.mit.edu	37	5	140175903	140175903	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:140175903G>A	ENST00000526136.1	+	1	1354	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A452T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A452T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGTT	0.647																																						uc003lhd.2																			0				ovary(4)	4						c.(1354-1356)GCG>ACG		protocadherin alpha 2 isoform 1 precursor							78.0	78.0	78.0					5																	140175903		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175903G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1354G>A	5.37:g.140175903G>A	ENSP00000431748:p.Ala452Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHA2_uc011czy.1_Missense_Mutation_p.A452T	p.A452T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1460	+			452			Cadherin 4.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1354G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	15.06	2.720138	0.48728	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61742	0.08;0.08;0.08	3.98	3.98	0.46160	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39475	U	0.001346	T	0.65037	0.2653	M	0.79258	2.445	0.23743	N	0.996966	D;P;D	0.63880	0.993;0.869;0.993	P;P;P	0.50049	0.629;0.453;0.629	T	0.61797	-0.6989	10	0.51188	T	0.08	.	12.3449	0.55116	0.0:0.1704:0.8295:0.0	.	452;452;452	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	452	ENSP00000430584:A452T;ENSP00000367372:A452T;ENSP00000431748:A452T	ENSP00000367372:A452T	A	+	1	0	PCDHA2	140156087	0.090000	0.21635	0.994000	0.49952	0.447000	0.32167	1.624000	0.37018	1.920000	0.55613	0.650000	0.86243	GCG		0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
ADRA1B	147	broad.mit.edu	37	5	159344026	159344026	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:159344026C>T	ENST00000306675.3	+	1	237	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	38					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCACACTGCCCCAGCTGGACA	0.587																																						uc003lxt.1																			0				lung(1)	1						c.(112-114)CCC>CCT		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						81.0	81.0	81.0					5																	159344026		2203	4300	6503	SO:0001819	synonymous_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344026C>T	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.114C>T	5.37:g.159344026C>T							p.P38P	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	287	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	38			Extracellular (By similarity).		B0LPE1	Silent	SNP	ENST00000306675.3	37	c.114C>T	CCDS4347.1																																																																																				0.587	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1		
RGS14	10636	broad.mit.edu	37	5	176795734	176795734	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:176795734T>C	ENST00000408923.3	+	9	1054	c.866T>C	c.(865-867)cTt>cCt	p.L289P		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	289					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGAAGAGCCTTGGGAGCACG	0.582											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(47;353 1896 28036)	uc003mgf.2																			0				lung(1)	1						c.(865-867)CTT>CCT		regulator of G-protein signalling 14							74.0	89.0	84.0					5																	176795734		2051	4196	6247	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176795734T>C	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.866T>C	5.37:g.176795734T>C	ENSP00000386229:p.Leu289Pro		OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1933	RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgh.2_Missense_Mutation_p.L136P|RGS14_uc003mgi.2_Missense_Mutation_p.L59P|RGS14_uc003mgj.2_5'Flank	p.L289P	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1048	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	289					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.866T>C	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140798	0.37825	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.44482	0.92	4.06	4.06	0.47325	.	0.473950	0.20378	N	0.093507	T	0.55210	0.1906	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.984	D;D;D;P	0.69307	0.963;0.961;0.952;0.642	T	0.56962	-0.7892	10	0.72032	D	0.01	-8.7136	8.0063	0.30327	0.0:0.0929:0.0:0.9071	.	59;136;136;289	B3KUX0;O43566-5;O43566-4;O43566	.;.;.;RGS14_HUMAN	P	289;69	ENSP00000386229:L289P	ENSP00000336864:L69P	L	+	2	0	RGS14	176728340	1.000000	0.71417	0.989000	0.46669	0.419000	0.31324	2.403000	0.44530	1.684000	0.51022	0.459000	0.35465	CTT		0.582	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480	
ZKSCAN4	387032	broad.mit.edu	37	6	28213024	28213024	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:28213024A>G	ENST00000377294.2	-	5	1751	c.1508T>C	c.(1507-1509)aTt>aCt	p.I503T	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I348T	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	503					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGATGTTCAATAAGACTTCT	0.428																																						uc003nks.1																			0				ovary(1)	1						c.(1507-1509)ATT>ACT		zinc finger with KRAB and SCAN domains 4							120.0	116.0	117.0					6																	28213024		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213024A>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1508T>C	6.37:g.28213024A>G	ENSP00000366509:p.Ile503Thr					ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	p.I503T	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			5	1752	-			503			C2H2-type 6.		B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1508T>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009153	0.35415	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.16196	2.36;2.36	5.58	-0.904	0.10530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.01228	-0.945	0.09310	N	1	P	0.39717	0.684	B	0.41036	0.346	T	0.27640	-1.0068	9	0.35671	T	0.21	.	2.2475	0.04035	0.3056:0.1523:0.3954:0.1467	.	503	Q969J2	ZKSC4_HUMAN	T	503;348	ENSP00000366509:I503T;ENSP00000401978:I348T	ENSP00000366509:I503T	I	-	2	0	ZKSCAN4	28321003	0.000000	0.05858	0.006000	0.13384	0.965000	0.64279	-1.176000	0.03099	0.162000	0.19483	0.533000	0.62120	ATT		0.428	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110	
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:152461140C>T	ENST00000367255.5	-	140	26004	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R8468H(5)		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)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)																												uc010kiw.2																			5	Substitution - Missense(5)	p.R8468H(1)	NS(2)|central_nervous_system(2)|large_intestine(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25402-25404)CGT>CAT		spectrin repeat containing, nuclear envelope 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	97.0	104.0		25259,25403	1.6	0.0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	8420/8750,8468/8798	152461140	2,13004	2203	4300	6503	SO:0001583	missense	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.chr6:152461140C>T	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.25403G>A	6.37:g.152461140C>T	ENSP00000356224:p.Arg8468His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R2992H|SYNE1_uc003qos.3_Missense_Mutation_p.R2992H|SYNE1_uc003qot.3_Missense_Mutation_p.R8420H|SYNE1_uc003qou.3_Missense_Mutation_p.R8468H|SYNE1_uc003qop.3_Missense_Mutation_p.R653H|SYNE1_uc011eez.1_Missense_Mutation_p.R670H|SYNE1_uc003qoq.3_Missense_Mutation_p.R670H|SYNE1_uc003qor.3_Missense_Mutation_p.R1391H	p.R8468H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	26005	-		Ovarian(120;0.0955)	8468		R -> H (in a colorectal cancer sample; somatic mutation).	Cytoplasmic (Potential).|Spectrin 31.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470783	0.12461	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.92	1.61	0.23674	.	0.227351	0.31156	N	0.008147	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.015;0.012;0.015;0.008	B;B;B;B;B	0.17433	0.018;0.018;0.011;0.018;0.013	T	0.32481	-0.9905	10	0.21540	T	0.41	.	9.0212	0.36202	0.0:0.6038:0.0:0.3962	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468H;ENSP00000441052:R623H;ENSP00000356226:R1114H;ENSP00000396024:R8420H;ENSP00000265368:R8468H;ENSP00000390975:R8420H;ENSP00000341887:R8080H;ENSP00000349276:R2992H;ENSP00000356220:R1413H;ENSP00000346701:R646H	ENSP00000265368:R8468H	R	-	2	0	SYNE1	152502833	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	-0.096000	0.11059	0.000000	0.14550	-0.254000	0.11334	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
AHR	196	broad.mit.edu	37	7	17367444	17367444	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:17367444C>A	ENST00000242057.4	+	4	1065	c.422C>A	c.(421-423)aCt>aAt	p.T141N		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	141	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GCTTCTTCTACTATACAAGAT	0.279																																						uc011jxz.1																			0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(421-423)ACT>AAT		aryl hydrocarbon receptor precursor							148.0	142.0	144.0					7																	17367444		2203	4298	6501	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17367444C>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.422C>A	7.37:g.17367444C>A	ENSP00000242057:p.Thr141Asn					AHR_uc003stt.3_RNA	p.T141N	NM_001621	NP_001612	P35869	AHR_HUMAN			4	1035	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		141			PAS 1.		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.422C>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208299	0.79240	.	.	ENSG00000106546	ENST00000242057	T	0.15718	2.4	5.76	5.76	0.90799	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.42487	1.325	0.58432	D	0.999997	P	0.44946	0.846	P	0.47786	0.557	T	0.00302	-1.1834	10	0.62326	D	0.03	.	19.9634	0.97258	0.0:1.0:0.0:0.0	.	141	P35869	AHR_HUMAN	N	141	ENSP00000242057:T141N	ENSP00000242057:T141N	T	+	2	0	AHR	17333969	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.742000	0.68646	2.721000	0.93114	0.563000	0.77884	ACT		0.279	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
RAPGEF5	9771	broad.mit.edu	37	7	22165268	22165268	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:22165268G>A	ENST00000401957.2	-	15	1828	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	RAPGEF5_ENST00000344041.6_Silent_p.I677I			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	527	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGTGTCTGCGATCATATGCT	0.463																																						uc003svg.2																			0				ovary(1)	1						c.(2029-2031)ATC>ATT		Rap guanine nucleotide exchange factor (GEF) 5							155.0	147.0	150.0					7																	22165268		1994	4169	6163	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22165268G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1581C>T	7.37:g.22165268G>A							p.I677I	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			25	2344	-			527			Ras-GEF.		A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37	c.2031C>T																																																																																					0.463	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294	
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		6	Substitution - Missense(6)	p.R108K(7)|p.V30_R297>G(5)	central_nervous_system(6)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(322-324)AGA>AAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	119.0	119.0					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55221822C>A	ENST00000275493.2	+	7	1043	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_ENST00000420316.2_Missense_Mutation_p.A289D|EGFR_ENST00000455089.1_Missense_Mutation_p.A244D|EGFR_ENST00000454757.2_Missense_Mutation_p.A236D|EGFR_ENST00000442591.1_Missense_Mutation_p.A289D|EGFR_ENST00000344576.2_Missense_Mutation_p.A289D|EGFR_ENST00000342916.3_Missense_Mutation_p.A289D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>A	7.37:g.55221822C>A	ENSP00000275493:p.Ala289Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289D|EGFR_uc003tqi.2_Missense_Mutation_p.A289D|EGFR_uc003tqj.2_Missense_Mutation_p.A289D|EGFR_uc010kzg.1_Missense_Mutation_p.A244D|EGFR_uc011kco.1_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459485	0.96240	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.41710	1.295	0.80722	D	1	P;D;P;D;P	0.69078	0.933;0.997;0.954;0.991;0.685	B;D;P;P;B	0.79784	0.424;0.993;0.652;0.649;0.241	T	0.74890	-0.3510	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	D	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244D;ENSP00000342376:A289D;ENSP00000345973:A289D;ENSP00000413843:A289D;ENSP00000275493:A289D;ENSP00000410031:A289D;ENSP00000395243:A236D	ENSP00000275493:A289D	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		15	Substitution - Missense(15)	p.G598V(16)	central_nervous_system(15)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZKSCAN1	7586	broad.mit.edu	37	7	99621816	99621816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:99621816G>A	ENST00000324306.6	+	3	700	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G120R	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTCGCAAGGGGGATGGTGCC	0.507																																						uc003usk.1																			0				ovary(3)	3						c.(466-468)GGG>AGG		zinc finger protein 36							95.0	84.0	88.0					7																	99621816		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621816G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.466G>A	7.37:g.99621816G>A	ENSP00000323148:p.Gly156Arg					ZKSCAN1_uc003usj.2_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	p.G156R	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	685	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		156					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.466G>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774319	0.69992	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.07444	3.23;3.19	4.69	3.81	0.43845	Transcription regulator SCAN (1);	0.262283	0.27219	N	0.020366	T	0.03608	0.0103	N	0.08118	0	0.80722	D	1	B;P	0.40476	0.001;0.718	B;B	0.31337	0.002;0.128	T	0.51942	-0.8641	10	0.52906	T	0.07	.	8.4972	0.33136	0.1052:0.0:0.8948:0.0	.	156;120	P17029;E9PC66	ZKSC1_HUMAN;.	R	156;120	ENSP00000323148:G156R;ENSP00000409172:G120R	ENSP00000323148:G156R	G	+	1	0	ZKSCAN1	99459752	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.024000	0.49674	1.203000	0.43233	0.491000	0.48974	GGG		0.507	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439	
DOCK4	9732	broad.mit.edu	37	7	111395650	111395650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:111395650C>T	ENST00000437633.1	-	41	4566	c.4310G>A	c.(4309-4311)tGg>tAg	p.W1437*	DOCK4_ENST00000494651.2_Nonsense_Mutation_p.W320*|DOCK4_ENST00000428084.1_Nonsense_Mutation_p.W1446*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1437	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTCTCCACCCAGAGACTCTA	0.453																																						uc003vfx.2																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(4309-4311)TGG>TAG		dedicator of cytokinesis 4							125.0	116.0	119.0					7																	111395650		1939	4136	6075	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111395650C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4310G>A	7.37:g.111395650C>T	ENSP00000404179:p.Trp1437*					DOCK4_uc011kml.1_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.W887*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.W1482*	p.W1437*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			41	4579	-		Acute lymphoblastic leukemia(1;0.0441)	1437			DHR-2.		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.4310G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.153707|11.153707	0.99523|0.99523	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46483|.	0.1395|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36962|.	-0.9726|.	3|.	.|0.02654	.|T	.|1	.|.	18.7549|18.7549	0.91828|0.91828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	898;1470|1425;1446;320;1437;1434	.|.	.|ENSP00000345432:W1434X	G|W	-|-	1|2	0|0	DOCK4|DOCK4	111182886|111182886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.453	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
WNT2	7472	broad.mit.edu	37	7	116960624	116960624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:116960624G>A	ENST00000265441.3	-	2	606	c.307C>T	c.(307-309)Cga>Tga	p.R103*	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	103					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTACTTCGGAGTAGGACC	0.547																																						uc003viz.2																			0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(307-309)CGA>TGA		wingless-type MMTV integration site family							75.0	57.0	63.0					7																	116960624		2203	4300	6503	SO:0001587	stop_gained	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960624G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.307C>T	7.37:g.116960624G>A	ENSP00000265441:p.Arg103*					WNT2_uc003vja.2_Missense_Mutation_p.P28L	p.R103*	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	607	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		103					A4D0V1|Q75N05|Q9UDP9	Nonsense_Mutation	SNP	ENST00000265441.3	37	c.307C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091846	0.94149	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	.	.	.	5.28	5.28	0.74379	.	0.186985	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000265441:R103X	R	-	1	2	WNT2	116747860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.219000	0.65262	2.604000	0.88044	0.655000	0.94253	CGA		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
TMEM209	84928	broad.mit.edu	37	7	129813714	129813714	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:129813714G>A	ENST00000397622.2	-	12	1532	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Silent_p.D428D|TMEM209_ENST00000462753.1_Silent_p.D469D|TMEM209_ENST00000336804.8_Silent_p.D427D	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	470						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGTTTTTCCGTCGGGATACT	0.363																																						uc003vpn.2																			0				ovary(2)|large_intestine(1)	3						c.(1408-1410)GAC>GAT		transmembrane protein 209							202.0	196.0	198.0					7																	129813714		1831	4089	5920	SO:0001819	synonymous_variant	84928					integral to membrane		g.chr7:129813714G>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1410C>T	7.37:g.129813714G>A						TMEM209_uc010lmc.1_Silent_p.D428D	p.D470D	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			12	1533	-	Melanoma(18;0.0435)		470					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Silent	SNP	ENST00000397622.2	37	c.1410C>T	CCDS47712.1																																																																																				0.363	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	
RAB19	401409	broad.mit.edu	37	7	140107592	140107592	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:140107592C>T	ENST00000356407.3	+	1	214	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RAB19_ENST00000537763.1_Missense_Mutation_p.T49M|RAB19_ENST00000275874.5_Missense_Mutation_p.T49M			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	49					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAGCAGAACACGATTGGAGTG	0.468																																						uc010lni.2																			0					0						c.(145-147)ACG>ATG		RAB19, member RAS oncogene family							148.0	123.0	131.0					7																	140107592		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140107592C>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.146C>T	7.37:g.140107592C>T	ENSP00000348778:p.Thr49Met					RAB19_uc011krc.1_Missense_Mutation_p.T49M	p.T49M	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			2	344	+	Melanoma(164;0.0142)		49			Effector region (By similarity).		A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.146C>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009205	0.93346	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96963	0.9703	10	0.87932	D	0	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	49	A4D1S5	RAB19_HUMAN	M	49	ENSP00000420782:T49M;ENSP00000275874:T49M;ENSP00000440167:T49M;ENSP00000348778:T49M	ENSP00000275874:T49M	T	+	2	0	RAB19	139754061	1.000000	0.71417	0.972000	0.41901	0.902000	0.53008	7.723000	0.84788	2.871000	0.98454	0.655000	0.94253	ACG		0.468	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1		
DLGAP2	9228	broad.mit.edu	37	8	1496906	1496906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:1496906G>A	ENST00000421627.2	+	2	181	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	95					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGTGTTCCGGGCACACGTGT	0.721																																						uc003wpl.2																			0					0						c.(46-48)GGG>GAG		discs large-associated protein 2							8.0	9.0	9.0					8																	1496906		1606	3404	5010	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1496906G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.47G>A	8.37:g.1496906G>A	ENSP00000400258:p.Gly16Glu					DLGAP2_uc003wpm.2_Missense_Mutation_p.G16E	p.G16E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	144	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	95					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.47G>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.069146|2.069146	0.36470|0.36470	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|T	0.11495|0.11385	2.77|2.78	4.95|4.95	4.05|4.05	0.47172|0.47172	.|.	0.356377|0.356377	0.29233|0.29233	N|N	0.012750|0.012750	T|T	0.20414|0.20414	0.0491|0.0491	L|L	0.59436|0.59436	1.845|1.845	0.40171|0.40171	D|D	0.977177|0.977177	P;P|.	0.41041|.	0.554;0.736|.	B;B|.	0.39299|.	0.296;0.169|.	T|T	0.01869|0.01869	-1.1257|-1.1257	10|8	0.18710|0.27082	T|T	0.47|0.32	-12.4922|-12.4922	14.3713|14.3713	0.66840|0.66840	0.0:0.3561:0.6439:0.0|0.0:0.3561:0.6439:0.0	.|.	95;95|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	E|S	61;16|33	ENSP00000400258:G16E|ENSP00000430563:G33S	ENSP00000348366:G61E|ENSP00000430563:G33S	G|G	+|+	2|1	0|0	DLGAP2|DLGAP2	1484313|1484313	1.000000|1.000000	0.71417|0.71417	0.136000|0.136000	0.22124|0.22124	0.687000|0.687000	0.40016|0.40016	2.810000|2.810000	0.47979|0.47979	1.015000|1.015000	0.39444|0.39444	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.721	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
ADAMDEC1	27299	broad.mit.edu	37	8	24254921	24254921	+	Silent	SNP	C	C	T	rs141288918		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:24254921C>T	ENST00000256412.4	+	6	799	c.579C>T	c.(577-579)gaC>gaT	p.D193D	ADAMDEC1_ENST00000522298.1_Silent_p.D114D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Silent_p.D114D	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	193					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAGCACTGACGGGAAACAAG	0.443																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				skin(2)	2						c.(577-579)GAC>GAT		ADAM-like, decysin 1 isoform 1		C	,,	3,4403	6.2+/-15.9	0,3,2200	205.0	199.0	201.0		342,342,579	5.5	0.9	8	dbSNP_134	201	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	114/392,114/392,193/471	24254921	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254921C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.579C>T	8.37:g.24254921C>T						ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	p.D193D	NM_014479	NP_055294	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	6	799	+		Prostate(55;0.0181)	193					B7ZAK5	Silent	SNP	ENST00000256412.4	37	c.579C>T	CCDS6044.1																																																																																				0.443	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
SDCBP	6386	broad.mit.edu	37	8	59492353	59492353	+	Splice_Site	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:59492353G>A	ENST00000260130.4	+	7	900	c.750G>A	c.(748-750)aaG>aaA	p.K250K	SDCBP_ENST00000424270.2_Splice_Site_p.K244K|SDCBP_ENST00000422546.2_Splice_Site_p.K249K|SDCBP_ENST00000413219.2_Splice_Site_p.K250K|SDCBP_ENST00000447182.2_Splice_Site_p.K249K|SDCBP_ENST00000523483.1_Splice_Site_p.K270K|SDCBP_ENST00000520168.1_Splice_Site_p.K191K|SDCBP_ENST00000447267.2_Splice_Site_p.K196K	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	250	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTGGATTGAAGGTAAGGAACA	0.398																																						uc003xtn.2																			0					0						c.(748-750)AAG>AAA		syntenin isoform 1							123.0	114.0	117.0					8																	59492353		2203	4300	6503	SO:0001630	splice_region_variant	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59492353G>A	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.750+1G>A	8.37:g.59492353G>A						SDCBP_uc003xto.2_Silent_p.K249K|SDCBP_uc003xtr.2_Silent_p.K249K|SDCBP_uc003xtp.2_Silent_p.K244K|SDCBP_uc003xtq.2_Silent_p.K250K|SDCBP_uc003xts.2_Silent_p.K256K|SDCBP_uc011led.1_Silent_p.K191K	p.K250K	NM_005625	NP_005616	O00560	SDCB1_HUMAN			7	900	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	250			PDZ 2.		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	ENST00000260130.4	37	c.750G>A	CCDS6172.1																																																																																				0.398	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625	Silent
DOCK8	81704	broad.mit.edu	37	9	396909	396909	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:396909C>G	ENST00000453981.1	+	25	3207	c.3095C>G	c.(3094-3096)gCa>gGa	p.A1032G	DOCK8_ENST00000382329.1_Missense_Mutation_p.A499G|DOCK8_ENST00000382331.1_Missense_Mutation_p.A334G|DOCK8_ENST00000469391.1_Missense_Mutation_p.A932G|DOCK8_ENST00000432829.2_Missense_Mutation_p.A964G			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1032					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCGGAAATTGCAGCCCTTTTA	0.348																																						uc003zgf.2																			0				ovary(3)|central_nervous_system(3)	6						c.(3094-3096)GCA>GGA		dedicator of cytokinesis 8							128.0	125.0	126.0					9																	396909		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:396909C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3095C>G	9.37:g.396909C>G	ENSP00000408464:p.Ala1032Gly					DOCK8_uc010mgu.2_Missense_Mutation_p.A334G|DOCK8_uc010mgv.2_Missense_Mutation_p.A932G|DOCK8_uc010mgw.1_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	p.A1032G	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3207	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1032					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3095C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828852	0.32329	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.7	5.7	0.88788	.	0.100234	0.64402	D	0.000003	T	0.13415	0.0325	N	0.13043	0.29	0.45837	D	0.9987	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.14309	-1.0477	10	0.18276	T	0.48	.	15.3353	0.74247	0.0:0.861:0.139:0.0	.	334;932;499;1032	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	G	1032;1000;964;932;334;499	ENSP00000408464:A1032G;ENSP00000394888:A964G;ENSP00000419438:A932G;ENSP00000371768:A334G;ENSP00000371766:A499G	ENSP00000287364:A1000G	A	+	2	0	DOCK8	386909	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.635000	0.46537	2.683000	0.91414	0.655000	0.94253	GCA		0.348	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
DOCK8	81704	broad.mit.edu	37	9	399200	399200	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:399200C>G	ENST00000453981.1	+	26	3287	c.3175C>G	c.(3175-3177)Ctt>Gtt	p.L1059V	DOCK8_ENST00000382329.1_Missense_Mutation_p.L526V|DOCK8_ENST00000382331.1_Missense_Mutation_p.L361V|DOCK8_ENST00000469391.1_Missense_Mutation_p.L959V|DOCK8_ENST00000432829.2_Missense_Mutation_p.L991V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1059					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTGTATGACCTTCTCTCCCT	0.493																																						uc003zgf.2																			0				ovary(3)|central_nervous_system(3)	6						c.(3175-3177)CTT>GTT		dedicator of cytokinesis 8							177.0	157.0	164.0					9																	399200		2202	4300	6502	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:399200C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3175C>G	9.37:g.399200C>G	ENSP00000408464:p.Leu1059Val					DOCK8_uc010mgu.2_Missense_Mutation_p.L361V|DOCK8_uc010mgv.2_Missense_Mutation_p.L959V|DOCK8_uc010mgw.1_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	p.L1059V	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	26	3287	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1059					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3175C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617161	0.87359	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	6.04	6.04	0.98038	.	0.060147	0.64402	D	0.000002	T	0.45875	0.1364	M	0.80508	2.5	0.80722	D	1	P;P;P;P	0.41597	0.544;0.756;0.756;0.756	B;B;B;B	0.42555	0.16;0.391;0.391;0.391	T	0.43750	-0.9372	10	0.48119	T	0.1	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	361;959;526;1059	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	V	1059;1027;991;959;361;526	ENSP00000408464:L1059V;ENSP00000394888:L991V;ENSP00000419438:L959V;ENSP00000371768:L361V;ENSP00000371766:L526V	ENSP00000287364:L1027V	L	+	1	0	DOCK8	389200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.909000	0.69923	2.873000	0.98535	0.563000	0.77884	CTT		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
DOCK8	81704	broad.mit.edu	37	9	439373	439373	+	Silent	SNP	G	G	A	rs144172375	byFrequency	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:439373G>A	ENST00000453981.1	+	40	5320	c.5208G>A	c.(5206-5208)gcG>gcA	p.A1736A	DOCK8_ENST00000382329.1_Silent_p.A1203A|DOCK8_ENST00000469391.1_Silent_p.A1636A|DOCK8_ENST00000432829.2_Silent_p.A1668A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1736	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGCCGCGGAGCTCTTCA	0.647																																						uc003zgf.2																			0				ovary(3)|central_nervous_system(3)	6						c.(5206-5208)GCG>GCA		dedicator of cytokinesis 8		G	,,	0,4406		0,0,2203	51.0	47.0	49.0		4908,5004,5208	-9.8	0.0	9	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1636/2000,1668/2032,1736/2100	439373	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439373G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5208G>A	9.37:g.439373G>A						DOCK8_uc010mgu.2_Silent_p.A1038A|DOCK8_uc010mgv.2_Silent_p.A1636A|DOCK8_uc003zgk.2_Silent_p.A1194A	p.A1736A	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5320	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1736			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.5208G>A	CCDS6440.2																																																																																				0.647	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
OR2K2	26248	broad.mit.edu	37	9	114090506	114090506	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:114090506C>T	ENST00000374428.1	-	1	294	c.295G>A	c.(295-297)Gat>Aat	p.D99N	OR2K2_ENST00000302681.1_Missense_Mutation_p.D70N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TAACAAATATCCATGAAAGAG	0.418																																						uc011lwp.1																			0				ovary(1)	1						c.(208-210)GAT>AAT		olfactory receptor, family 2, subfamily K,							81.0	82.0	82.0					9																	114090506		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090506C>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.295G>A	9.37:g.114090506C>T	ENSP00000363550:p.Asp99Asn						p.D70N	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	208	-			99			Helical; Name=2; (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.208G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.987123	0.74589	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.01165	5.24;5.24	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	U	0.000812	T	0.10508	0.0257	M	0.93898	3.47	0.38596	D	0.950552	D	0.89917	1.0	D	0.87578	0.998	T	0.01262	-1.1402	10	0.87932	D	0	.	15.262	0.73631	0.0:1.0:0.0:0.0	.	99	Q8NGT1	OR2K2_HUMAN	N	70;99	ENSP00000305055:D70N;ENSP00000363550:D99N	ENSP00000305055:D70N	D	-	1	0	OR2K2	113130327	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	4.541000	0.60670	2.551000	0.86045	0.591000	0.81541	GAT		0.418	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
COL27A1	85301	broad.mit.edu	37	9	117020836	117020836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:117020836C>T	ENST00000356083.3	+	28	3548	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1053	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1053*(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCAGGATCTCGAGGCCCACC	0.622																																						uc011lxl.1																			1	Substitution - Nonsense(1)		large_intestine(1)	ovary(3)|skin(1)	4						c.(3157-3159)CGA>TGA		collagen, type XXVII, alpha 1 precursor							49.0	47.0	47.0					9																	117020836		2203	4300	6503	SO:0001587	stop_gained	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117020836C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3157C>T	9.37:g.117020836C>T	ENSP00000348385:p.Arg1053*					COL27A1_uc004bii.2_RNA	p.R1053*	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			28	3157	+			1053			Pro-rich.|Collagen-like 7.|Triple-helical region.		Q66K43|Q96JF7	Nonsense_Mutation	SNP	ENST00000356083.3	37	c.3157C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	46	12.535050	0.99675	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9936	0.64382	0.0:1.0:0.0:0.0	.	.	.	.	X	1053	.	ENSP00000348385:R1053X	R	+	1	2	COL27A1	116060657	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	2.365000	0.80145	0.462000	0.41574	CGA		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
C9orf171	389799	broad.mit.edu	37	9	135374759	135374759	+	Splice_Site	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:135374759C>T	ENST00000343036.2	+	4	452	c.404C>T	c.(403-405)gCc>gTc	p.A135V	C9orf171_ENST00000393215.3_Splice_Site_p.A99V|C9orf171_ENST00000393216.2_Splice_Site_p.A99V	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	135										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCTCAGCCATCGGACGC	0.647																																						uc004cbn.2																			0				ovary(4)|large_intestine(1)	5						c.(403-405)GCC>GTC		hypothetical protein LOC389799							45.0	46.0	46.0					9																	135374759		2203	4300	6503	SO:0001630	splice_region_variant	389799							g.chr9:135374759C>T	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.404-1C>T	9.37:g.135374759C>T						C9orf171_uc004cbo.2_Missense_Mutation_p.A99V	p.A135V	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			4	452	+			135					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.404C>T	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261377	0.80246	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.18338	2.22;2.22;2.22	5.26	5.26	0.73747	.	0.065538	0.64402	D	0.000016	T	0.36468	0.0968	L	0.47016	1.485	0.45648	D	0.998574	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.971	T	0.01298	-1.1392	9	.	.	.	.	18.212	0.89873	0.0:1.0:0.0:0.0	.	99;135	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	V	99;135;99	ENSP00000376908:A99V;ENSP00000343290:A135V;ENSP00000376909:A99V	.	A	+	2	0	C9orf171	134364580	1.000000	0.71417	0.978000	0.43139	0.750000	0.42670	4.879000	0.63100	2.618000	0.88619	0.561000	0.74099	GCC		0.647	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	Missense_Mutation
ARSF	416	broad.mit.edu	37	X	3021960	3021960	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:3021960G>A	ENST00000381127.1	+	9	1481	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ARSF_ENST00000359361.2_Silent_p.Q420Q|ARSF_ENST00000537104.1_Silent_p.Q420Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	420					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCTCCCTCAGGACAGGTGAT	0.448																																						uc004cre.1																			0				ovary(2)	2						c.(1258-1260)CAG>CAA		arylsulfatase F precursor							81.0	76.0	78.0					X																	3021960		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021960G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1260G>A	X.37:g.3021960G>A						ARSF_uc004crf.1_Silent_p.Q420Q	p.Q420Q	NM_004042	NP_004033	P54793	ARSF_HUMAN			9	1481	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	420					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1260G>A	CCDS14123.1																																																																																				0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
BCOR	54880	broad.mit.edu	37	X	39930272	39930272	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:39930272C>T	ENST00000378444.4	-	6	3420	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	BCOR_ENST00000342274.4_Silent_p.S1064S|BCOR_ENST00000378455.4_Silent_p.S1046S|BCOR_ENST00000378463.1_5'Flank|BCOR_ENST00000397354.3_Silent_p.S1064S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1064					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAGGGTGACCGACTTTGGCT	0.517			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(3190-3192)TCG>TCA		BCL-6 interacting corepressor isoform c							209.0	159.0	176.0					X																	39930272		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39930272C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3192G>A	X.37:g.39930272C>T						BCOR_uc004dep.3_Silent_p.S1064S|BCOR_uc004deo.3_Silent_p.S1046S|BCOR_uc004dem.3_Silent_p.S1064S	p.S1064S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			6	3484	-			1064					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.3192G>A	CCDS48093.1																																																																																				0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
SLC38A5	92745	broad.mit.edu	37	X	48319395	48319395	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:48319395G>T	ENST00000376876.3	-	12	1772	c.929C>A	c.(928-930)aCc>aAc	p.T310N	SLC38A5_ENST00000376875.1_Missense_Mutation_p.T259N|SLC38A5_ENST00000317669.5_Missense_Mutation_p.T310N|SLC38A5_ENST00000480105.1_5'Flank			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	310					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTATCCAAAGGTTGCTGTGAG	0.612																																						uc010nid.2																			0				ovary(3)	3						c.(928-930)ACC>AAC		solute carrier family 38, member 5							90.0	52.0	65.0					X																	48319395		2203	4299	6502	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48319395G>T	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.929C>A	X.37:g.48319395G>T	ENSP00000366073:p.Thr310Asn					SLC38A5_uc004djk.3_Missense_Mutation_p.T259N	p.T310N	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			13	1107	-			310			Helical; (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.929C>A	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	16.11	3.029933	0.54790	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02345	4.33;4.33;4.33	4.24	3.36	0.38483	.	0.472460	0.21311	N	0.076633	T	0.03783	0.0107	L	0.34521	1.04	0.28292	N	0.923481	P	0.44195	0.828	P	0.47891	0.56	T	0.22068	-1.0227	10	0.87932	D	0	.	5.2154	0.15340	0.2554:0.0:0.7446:0.0	.	310	Q8WUX1	S38A5_HUMAN	N	310;259;310	ENSP00000366073:T310N;ENSP00000366071:T259N;ENSP00000313740:T310N	ENSP00000313740:T310N	T	-	2	0	SLC38A5	48204339	1.000000	0.71417	0.873000	0.34254	0.462000	0.32619	5.923000	0.70045	1.692000	0.51112	0.436000	0.28706	ACC		0.612	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518	
HUWE1	10075	broad.mit.edu	37	X	53573431	53573431	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:53573431G>A	ENST00000342160.3	-	69	11338	c.10881C>T	c.(10879-10881)gcC>gcT	p.A3627A	HUWE1_ENST00000262854.6_Silent_p.A3627A|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3627					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGATGGCGGGCTCCATTCA	0.498																																						uc004dsp.2																			0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10879-10881)GCC>GCT		HECT, UBA and WWE domain containing 1							54.0	49.0	50.0					X																	53573431		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53573431G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10881C>T	X.37:g.53573431G>A						HUWE1_uc004dsn.2_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	p.A3627A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			70	11283	-			3627					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.10881C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223721	0.22457	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.57	-3.78	0.04333	.	.	.	.	.	T	0.37320	0.0999	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	4	.	.	.	.	0.7637	0.01011	0.2609:0.2967:0.2381:0.2043	.	.	.	.	S	2661;465	.	.	P	-	1	0	HUWE1	53590156	0.848000	0.29623	0.916000	0.36221	0.994000	0.84299	-0.177000	0.09796	-1.043000	0.03258	-0.191000	0.12829	CCG		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
ARMCX2	9823	broad.mit.edu	37	X	100911799	100911799	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:100911799G>A	ENST00000328766.5	-	5	1229	c.776C>T	c.(775-777)gCa>gTa	p.A259V	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A259V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A259V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	259	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCAGGGGTTGCTTTCTTGGC	0.597																																						uc004eid.2																			0				ovary(6)	6						c.(775-777)GCA>GTA		ALEX2 protein							79.0	76.0	77.0					X																	100911799		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911799G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.776C>T	X.37:g.100911799G>A	ENSP00000331662:p.Ala259Val					ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc010nnt.2_Missense_Mutation_p.A259V	p.A259V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1131	-			259			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.776C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179787	0.21787	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.43688	0.94;0.94;0.94	4.43	3.47	0.39725	.	0.188682	0.26153	N	0.026036	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.34103	0.437	B	0.24701	0.055	T	0.21724	-1.0237	10	0.54805	T	0.06	-2.4823	10.1396	0.42728	0.0:0.0:0.8002:0.1997	.	259	Q7L311	ARMX2_HUMAN	V	259	ENSP00000331662:A259V;ENSP00000328631:A259V;ENSP00000349281:A259V	ENSP00000331662:A259V	A	-	2	0	ARMCX2	100798455	0.967000	0.33354	0.018000	0.16275	0.040000	0.13550	2.912000	0.48782	2.139000	0.66308	0.544000	0.68410	GCA		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
NRK	203447	broad.mit.edu	37	X	105153109	105153109	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:105153109G>A	ENST00000243300.9	+	13	1779	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	NRK_ENST00000428173.2_Silent_p.Q493Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	492	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCTTCTGCAGGTACAGTCCC	0.537										HNSCC(51;0.14)																												uc004emd.2																			0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1474-1476)CAG>CAA		Nik related kinase							52.0	53.0	53.0					X																	105153109		2026	4176	6202	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153109G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1476G>A	X.37:g.105153109G>A		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.Q160Q	p.Q492Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1779	+			492			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.1476G>A																																																																																					0.537	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
DCX	1641	broad.mit.edu	37	X	110644367	110644367	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:110644367G>A	ENST00000338081.3	-	3	970	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R186C|DCX_ENST00000356220.3_Missense_Mutation_p.R186C|DCX_ENST00000356915.2_Missense_Mutation_p.R186C|DCX_ENST00000488120.1_Missense_Mutation_p.R186C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	267	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> C (in SBHX). {ECO:0000269|PubMed:10369164, ECO:0000269|PubMed:11175293, ECO:0000269|PubMed:9668176}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCACTGCGGATGATGGTA	0.537																																						uc004epd.2																			0				central_nervous_system(2)|lung(1)|skin(1)	4	GRCh37	CM980528	DCX	M		c.(799-801)CGC>TGC		doublecortin isoform a							120.0	100.0	107.0					X																	110644367		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644367G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.799C>T	X.37:g.110644367G>A	ENSP00000337697:p.Arg267Cys					DCX_uc011msv.1_Missense_Mutation_p.R267C|DCX_uc004epe.2_Missense_Mutation_p.R186C|DCX_uc004epf.2_Missense_Mutation_p.R186C|DCX_uc004epg.2_Missense_Mutation_p.R186C	p.R267C	NM_000555	NP_000546	O43602	DCX_HUMAN			3	971	-			267		R -> C (in SBHX).	Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.799C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349072	0.82132	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	4.61	3.72	0.42706	Doublecortin domain (4);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.78314	0.991;0.558	D	0.97424	1.0011	10	0.66056	D	0.02	.	13.7182	0.62710	0.0:0.0:0.8443:0.1556	.	255;267	B4DM53;O43602	.;DCX_HUMAN	C	186;186;267;186;186	ENSP00000349385:R186C;ENSP00000361061:R186C;ENSP00000337697:R267C;ENSP00000348553:R186C;ENSP00000419861:R186C	ENSP00000337697:R267C	R	-	1	0	DCX	110531023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.605000	0.67634	0.971000	0.38288	0.513000	0.50165	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
SOWAHD	347454	broad.mit.edu	37	X	118893488	118893488	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:118893488G>A	ENST00000343905.3	+	1	913	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	286																	TGGCAGCGTCGCGGACCAAGG	0.642																																						uc010nql.2																			0					0						c.(856-858)TCG>TCA		ankyrin repeat domain 58							11.0	15.0	14.0					X																	118893488		2103	4127	6230	SO:0001819	synonymous_variant	347454							g.chrX:118893488G>A		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.858G>A	X.37:g.118893488G>A							p.S286S	NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN			1	913	+			286						Silent	SNP	ENST00000343905.3	37	c.858G>A	CCDS43984.1																																																																																				0.642	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576	
CNGA2	1260	broad.mit.edu	37	X	150912487	150912487	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:150912487T>A	ENST00000329903.4	+	6	1545	c.1512T>A	c.(1510-1512)gaT>gaA	p.D504E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	504					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGCTGATGATGGTGTGA	0.512																																						uc004fey.1																			0				breast(3)	3						c.(1510-1512)GAT>GAA		cyclic nucleotide gated channel alpha 2							160.0	133.0	142.0					X																	150912487		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912487T>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1512T>A	X.37:g.150912487T>A	ENSP00000328478:p.Asp504Glu						p.D504E	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1736	+	Acute lymphoblastic leukemia(192;6.56e-05)		504			cAMP (By similarity).|Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1512T>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	T	9.182	1.023941	0.19433	.	.	ENSG00000183862	ENST00000329903	D	0.92348	-3.02	5.33	4.16	0.48862	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	N	0.25286	0.73	0.51233	D	0.999913	B	0.17038	0.02	B	0.26310	0.068	T	0.76013	-0.3114	10	0.45353	T	0.12	.	5.0078	0.14297	0.0:0.097:0.1819:0.7211	.	504	Q16280	CNGA2_HUMAN	E	504	ENSP00000328478:D504E	ENSP00000328478:D504E	D	+	3	2	CNGA2	150663143	0.999000	0.42202	1.000000	0.80357	0.816000	0.46133	0.559000	0.23485	0.677000	0.31305	0.430000	0.28490	GAT		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
