#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
CLCA1	1179	broad.mit.edu	37	1	86954794	86954794	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:86954794A>G	ENST00000234701.3	+	9	1649	c.1298A>G	c.(1297-1299)cAc>cGc	p.H433R	CLCA1_ENST00000394711.1_Missense_Mutation_p.H433R			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	433	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCCATCATCCACACAGTCGCT	0.498																																						uc001dlt.3																			0		p.I432I(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1297-1299)cAc>cGc		Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.							93.0	89.0	91.0					1																	86954794		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86954794A>G		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1298A>G	1.37:g.86954794A>G	ENSP00000234701:p.His433Arg					CLCA1_uc001dls.1_Missense_Mutation_p.H372R	p.H433R	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1558	+		Lung NSC(277;0.239)	433			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1298A>G	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037528	0.54896	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.14516	2.5;2.5	5.68	5.68	0.88126	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	M	0.92219	3.285	0.44194	D	0.997017	D;P	0.56746	0.977;0.937	P;P	0.61722	0.893;0.774	T	0.51260	-0.8728	10	0.87932	D	0	-22.7614	15.5744	0.76365	1.0:0.0:0.0:0.0	.	433;196	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	R	433;433;146	ENSP00000234701:H433R;ENSP00000378200:H433R	ENSP00000234701:H433R	H	+	2	0	CLCA1	86727382	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	6.592000	0.74095	2.152000	0.67230	0.533000	0.62120	CAC		0.498	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
DCLRE1B	64858	broad.mit.edu	37	1	114454356	114454356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:114454356G>A	ENST00000369563.3	+	4	1588	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	381					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCTCCCTGGCCTGCGGAC	0.483								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1141-1143)tGg>tAg	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							75.0	78.0	77.0					1																	114454356		2203	4300	6503	SO:0001587	stop_gained	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454356G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1142G>A	1.37:g.114454356G>A	ENSP00000358576:p.Trp381*					DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W255*	p.W381*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1436	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	381					Q9H9E5	Nonsense_Mutation	SNP	ENST00000369563.3	37	c.1142G>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689152	0.96784	.	.	ENSG00000118655	ENST00000369563	.	.	.	4.25	-0.44	0.12261	.	1.230860	0.05958	N	0.640005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-17.1816	3.8077	0.08783	0.339:0.0:0.4881:0.1729	.	.	.	.	X	381	.	ENSP00000358576:W381X	W	+	2	0	DCLRE1B	114255879	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	-0.321000	0.08018	0.206000	0.20587	0.655000	0.94253	TGG		0.483	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	
HMCN1	83872	broad.mit.edu	37	1	186120829	186120829	+	Silent	SNP	C	C	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186120829C>A	ENST00000271588.4	+	95	15079	c.14850C>A	c.(14848-14850)ctC>ctA	p.L4950L	HMCN1_ENST00000367492.2_Silent_p.L4950L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4950	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTTTACCCTCACCAATGCAG	0.348																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14848-14850)ctC>ctA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							119.0	125.0	123.0					1																	186120829		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120829C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14850C>A	1.37:g.186120829C>A						MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.L519L	p.L4950L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			94	15079	+			4950			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.14850C>A	CCDS30956.1																																																																																				0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PLA2G4A	5321	broad.mit.edu	37	1	186948519	186948519	+	Missense_Mutation	SNP	T	T	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186948519T>G	ENST00000367466.3	+	17	2185	c.2033T>G	c.(2032-2034)tTt>tGt	p.F678C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F618C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	678	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GAATCACCATTTTCAACCTTC	0.358																																						uc001gsc.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(2032-2034)tTt>tGt		Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						124.0	120.0	121.0					1																	186948519		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186948519T>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.2033T>G	1.37:g.186948519T>G	ENSP00000356436:p.Phe678Cys					PLA2G4A_uc010pos.2_Missense_Mutation_p.F618C	p.F678C	NM_024420	NP_077734	P47712	PA24A_HUMAN			16	2238	+			678			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.2033T>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262726	0.59431	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04654	3.58;3.58	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.091908	0.85682	D	0.000000	T	0.15522	0.0374	L	0.55481	1.735	0.46317	D	0.998982	D;D	0.71674	0.998;0.998	P;P	0.61201	0.885;0.844	T	0.00138	-1.2002	10	0.87932	D	0	-21.424	14.9595	0.71144	0.0:0.0:0.0:1.0	.	618;678	E7EU42;P47712	.;PA24A_HUMAN	C	678;618	ENSP00000356436:F678C;ENSP00000406892:F618C	ENSP00000356436:F678C	F	+	2	0	PLA2G4A	185215142	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.120000	0.65058	0.460000	0.39030	TTT		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
ALX4	60529	broad.mit.edu	37	11	44297101	44297101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:44297101delC	ENST00000329255.3	-	2	677	c.574delG	c.(574-576)gacfs	p.D192fs		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	192					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGGCCCGGTCCTGGGGCCCC	0.632																																						uc001myb.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(574-576)gacfs		Homo sapiens ALX homeobox 4 (ALX4), mRNA.							77.0	85.0	82.0					11																	44297101		2203	4299	6502	SO:0001589	frameshift_variant	60529				hair follicle development			g.chr11:44297101delC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.574delG	11.37:g.44297101delC	ENSP00000332744:p.Asp192fs						p.D192fs	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			1	678	-			192					Q96JN7|Q9H198|Q9HAY9	Frame_Shift_Del	DEL	ENST00000329255.3	37	c.574delG	CCDS31468.1																																																																																				0.632	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1		
LOC440040	440040	broad.mit.edu	37	11	49598156	49598156	+	RNA	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:49598156C>T	ENST00000527477.1	+	0	760																											CTCATTTCTTCGGAAGAGGAA	0.532																																						uc010rhy.2																			0											c.(268-270)tCg>tTg		Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																																						440040							g.chr11:49598156C>T																													11.37:g.49598156C>T						LOC440040_uc009ymb.3_Missense_Mutation_p.S90L	p.S90L							1	747	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.269C>T																																																																																					0.532	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2		
NCAM1	4684	broad.mit.edu	37	11	113076266	113076266	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:113076266C>T	ENST00000533760.1	+	4	613	c.14C>T	c.(13-15)gCg>gTg	p.A5V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A122V|NCAM1_ENST00000316851.7_Missense_Mutation_p.A113V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	123					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTCAAGAATGCGCCAACCCCA	0.522																																						uc021qqp.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(361-363)gCg>gTg		Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.							88.0	90.0	89.0					11																	113076266		1988	4147	6135	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076266C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.14C>T	11.37:g.113076266C>T	ENSP00000473281:p.Ala5Val					NCAM1_uc001pno.3_Missense_Mutation_p.A5V|NCAM1_uc001pnp.3_Missense_Mutation_p.A121V|NCAM1_uc021qqo.1_Missense_Mutation_p.A121V|NCAM1_uc001pnq.3_Missense_Mutation_p.A121V|NCAM1_uc001pnr.3_Missense_Mutation_p.A121V	p.A121V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	3	734	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	123			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.362C>T		.	.	.	.	.	.	.	.	.	.	C	18.54	3.645485	0.67358	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.66815	-0.23;-0.23	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	.	.	.	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.995;0.996;0.996;0.995	P;P;P;P;P	0.56514	0.8;0.539;0.596;0.742;0.539	T	0.69442	-0.5144	9	0.21540	T	0.41	-29.1336	19.8991	0.96978	0.0:1.0:0.0:0.0	.	123;123;123;123;123	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	5;122;113	ENSP00000384055:A122V;ENSP00000318472:A113V	ENSP00000318472:A113V	A	+	2	0	NCAM1	112581476	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.731000	0.84895	2.708000	0.92522	0.655000	0.94253	GCG		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
NXPE1	120400	broad.mit.edu	37	11	114400948	114400948	+	Missense_Mutation	SNP	C	C	T	rs150857743	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:114400948C>T	ENST00000424269.1	-	2	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	NXPE1_ENST00000251921.2_Missense_Mutation_p.R119Q|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.R261Q|snoU13_ENST00000459372.1_RNA			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	261						extracellular region (GO:0005576)											CTCTCTATTCCGGGTGGTCAT	0.458																																						uc001ppa.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17						c.(355-357)cGg>cAg		Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.		C	GLN/ARG	3,4399	6.2+/-15.9	0,3,2198	88.0	89.0	89.0		356	-8.6	0.0	11	dbSNP_134	89	0,8592		0,0,4296	yes	missense	FAM55A	NM_152315.2	43	0,3,6494	TT,TC,CC		0.0,0.0682,0.0231	benign	119/406	114400948	3,12991	2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114400948C>T	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.782G>A	11.37:g.114400948C>T	ENSP00000411690:p.Arg261Gln					FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q	p.R119Q	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	2	773	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	261					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.356G>A		.	.	.	.	.	.	.	.	.	.	C	6.075	0.382052	0.11524	6.82E-4	0.0	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.45276	2.55;2.76;0.9	4.29	-8.59	0.00893	.	0.714147	0.12843	N	0.434605	T	0.28067	0.0692	L	0.60455	1.87	0.09310	N	1	B	0.22211	0.066	B	0.16289	0.015	T	0.15321	-1.0441	10	0.12430	T	0.62	.	9.7256	0.40330	0.2519:0.108:0.0:0.6402	.	261	F5H6W7	.	Q	119;261;261	ENSP00000251921:R119Q;ENSP00000411690:R261Q;ENSP00000442984:R261Q	ENSP00000251921:R119Q	R	-	2	0	FAM55A	113906158	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.853000	0.01666	-3.307000	0.00191	-0.812000	0.03155	CGG		0.458	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	
CD163L1	283316	broad.mit.edu	37	12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T	rs200380158		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:7531814C>T	ENST00000313599.3	-	9	2188	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	CD163L1_ENST00000416109.2_Missense_Mutation_p.V721M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V711M|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	711	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2161-2163)Gtg>Atg		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							124.0	97.0	106.0					12																	7531814		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531814C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2131G>A	12.37:g.7531814C>T	ENSP00000315945:p.Val711Met					CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	p.V721M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			8	2187	-			711			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2161G>A	CCDS8577.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.658	0.489995	0.12702	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.380520	0.03455	N	0.211262	T	0.26774	0.0655	N	0.14661	0.345	0.09310	N	1	P;P	0.49961	0.93;0.786	P;P	0.47705	0.555;0.555	T	0.50329	-0.8841	10	0.87932	D	0	.	6.254	0.20864	0.399:0.4627:0.0:0.1383	.	721;711	E7EVK4;Q9NR16	.;C163B_HUMAN	M	711;721;711	ENSP00000315945:V711M;ENSP00000393474:V721M;ENSP00000379871:V711M	ENSP00000315945:V711M	V	-	1	0	CD163L1	7423081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.251000	0.00074	-3.392000	0.00172	-3.006000	0.00076	GTG		0.502	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
PPM1H	57460	broad.mit.edu	37	12	63195712	63195712	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:63195712C>T	ENST00000228705.6	-	3	940	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	214	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCCACCCCTCCGCGCAGGGAG	0.682																																						uc001srk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(640-642)Gga>Aga		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.							27.0	33.0	31.0					12																	63195712		1889	4093	5982	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63195712C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.640G>A	12.37:g.63195712C>T	ENSP00000228705:p.Gly214Arg						p.G214R	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	2	789	-			214			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.640G>A	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635285	0.67130	.	.	ENSG00000111110	ENST00000228705	T	0.23950	1.88	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	P	0.51055	0.657	T	0.27606	-1.0069	9	.	.	.	-1.1288	17.2574	0.87061	0.0:1.0:0.0:0.0	.	214	Q9ULR3	PPM1H_HUMAN	R	214	ENSP00000228705:G214R	.	G	-	1	0	PPM1H	61481979	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	5.272000	0.65559	2.124000	0.65301	0.462000	0.41574	GGA		0.682	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	
ATP11A	23250	broad.mit.edu	37	13	113527920	113527920	+	Missense_Mutation	SNP	A	A	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr13:113527920A>T	ENST00000487903.1	+	27	3179	c.3091A>T	c.(3091-3093)Aac>Tac	p.N1031Y	ATP11A_ENST00000283558.8_Missense_Mutation_p.N1031Y|ATP11A_ENST00000375630.2_Missense_Mutation_p.N1031Y|ATP11A_ENST00000375645.3_Missense_Mutation_p.N1031Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1031					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GACTTGGATCAACCATTTTGT	0.448											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(3091-3093)Aac>Tac		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							224.0	186.0	199.0					13																	113527920		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113527920A>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3091A>T	13.37:g.113527920A>T	ENSP00000420387:p.Asn1031Tyr		OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1451	ATP11A_uc001vsi.4_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.3_Non-coding_Transcript	p.N1031Y	NM_032189	NP_115565	P98196	AT11A_HUMAN			26	3179	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1031					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3091A>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158356	0.78114	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	H	0.94503	3.545	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.62089	0.898;0.746	D	0.87677	0.2545	10	0.87932	D	0	.	13.7345	0.62809	1.0:0.0:0.0:0.0	.	1031;1031	E9PEJ6;P98196	.;AT11A_HUMAN	Y	1031;1031;1031;1031;23	ENSP00000420387:N1031Y;ENSP00000364781:N1031Y;ENSP00000364796:N1031Y;ENSP00000283558:N1031Y;ENSP00000410824:N23Y	ENSP00000283558:N1031Y	N	+	1	0	ATP11A	112575921	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	8.453000	0.90349	1.712000	0.51347	0.379000	0.24179	AAC		0.448	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
TRAV13-1	28671	broad.mit.edu	37	14	22337438	22337438	+	RNA	DEL	A	A	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr14:22337438delA	ENST00000390436.2	+	0	252									T cell receptor alpha variable 13-1																		GGGCGAAAAGAAAGACCAACG	0.433																																						uc021rpg.1																			0											c.(229-231)aaafs		Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.							182.0	180.0	181.0					14																	22337438		1921	4153	6074			28671							g.chr14:22337438delA	AE000659		14q11.2	2012-02-07			ENSG00000211788	ENSG00000211788		"""T cell receptors / TRA locus"""	12108	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168993		14.37:g.22337438delA						TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron	p.K77fs							1	292	+									Frame_Shift_Del	DEL	ENST00000390436.2	37	c.229delA																																																																																					0.433	TRAV13-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401891.1	NG_001332	
AK7	122481	broad.mit.edu	37	14	96953242	96953242	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr14:96953242G>A	ENST00000267584.4	+	17	2026	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	661	Glu-rich.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TAGAATAAACGACTGGAGGAA	0.393																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1981-1983)cGa>cAa		Homo sapiens adenylate kinase 7 (AK7), mRNA.							60.0	61.0	61.0					14																	96953242		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96953242G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1982G>A	14.37:g.96953242G>A	ENSP00000267584:p.Arg661Gln						p.R661Q	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	16	2026	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	661			Glu-rich.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1982G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980306	0.34942	.	.	ENSG00000140057	ENST00000267584	T	0.57595	0.39	5.45	3.55	0.40652	.	0.441306	0.24547	N	0.037586	T	0.39306	0.1073	L	0.39147	1.195	0.09310	N	0.999999	B	0.29481	0.245	B	0.25405	0.06	T	0.26224	-1.0109	10	0.39692	T	0.17	-11.9205	8.3798	0.32463	0.129:0.1464:0.7247:0.0	.	661	Q96M32	KAD7_HUMAN	Q	661	ENSP00000267584:R661Q	ENSP00000267584:R661Q	R	+	2	0	AK7	96022995	0.868000	0.29978	0.055000	0.19348	0.989000	0.77384	1.568000	0.36418	1.395000	0.46643	0.591000	0.81541	CGA		0.393	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
RYR3	6263	broad.mit.edu	37	15	33944995	33944995	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:33944995G>A	ENST00000389232.4	+	32	4289	c.4219G>A	c.(4219-4221)Gtg>Atg	p.V1407M	RYR3_ENST00000415757.3_Missense_Mutation_p.V1407M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1407	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGAGCAACGTGGACCTGGA	0.557																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4219-4221)Gtg>Atg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							110.0	112.0	111.0					15																	33944995		2041	4208	6249	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33944995G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4219G>A	15.37:g.33944995G>A	ENSP00000373884:p.Val1407Met					RYR3_uc010bar.3_Missense_Mutation_p.V1407M	p.V1407M	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	31	4289	+		all_lung(180;7.18e-09)	1407			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4219G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620794	0.66787	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69306	-0.39;-0.39	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.326332	0.28572	N	0.014872	T	0.75824	0.3902	L	0.40543	1.245	0.44194	D	0.997017	D;D	0.71674	0.996;0.998	P;D	0.65773	0.642;0.938	T	0.74275	-0.3718	10	0.46703	T	0.11	.	19.6435	0.95767	0.0:0.0:1.0:0.0	.	1407;1407	Q15413-2;Q15413	.;RYR3_HUMAN	M	1407	ENSP00000373884:V1407M;ENSP00000399610:V1407M	ENSP00000354735:V1407M	V	+	1	0	RYR3	31732287	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	2.493000	0.45320	2.866000	0.98385	0.650000	0.86243	GTG		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
ZSCAN29	146050	broad.mit.edu	37	15	43658464	43658464	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:43658464C>T	ENST00000396976.2	-	3	1200	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.D355N	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	356					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTCTCAGCATCGCTGCCTACC	0.572																																						uc001zrk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1066-1068)Gat>Aat		Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.							59.0	56.0	57.0					15																	43658464		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658464C>T	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1066G>A	15.37:g.43658464C>T	ENSP00000380174:p.Asp356Asn					ZSCAN29_uc001zrj.1_Missense_Mutation_p.D236N|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.D355N|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.D355N	p.D356N	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	2	1213	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	356					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1066G>A	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449056	0.43531	.	.	ENSG00000140265	ENST00000396976	T	0.09073	3.02	5.24	4.32	0.51571	.	0.346976	0.26224	N	0.025610	T	0.23688	0.0573	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.982;0.985;0.99	T	0.00529	-1.1687	10	0.46703	T	0.11	-0.653	11.7232	0.51693	0.0:0.915:0.0:0.085	.	355;356;356	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	N	356	ENSP00000380174:D356N	ENSP00000380174:D356N	D	-	1	0	ZSCAN29	41445756	0.004000	0.15560	0.242000	0.24170	0.030000	0.12068	1.543000	0.36147	1.446000	0.47643	0.655000	0.94253	GAT		0.572	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
SLC28A2	9153	broad.mit.edu	37	15	45555359	45555359	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:45555359G>A	ENST00000347644.3	+	5	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	121					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGGTTCACTCGTTTTTGAAAA	0.458																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(361-363)tcG>tcA		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.							103.0	98.0	100.0					15																	45555359		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555359G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.363G>A	15.37:g.45555359G>A							p.S121S	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	4	428	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	121					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.363G>A	CCDS10121.1																																																																																				0.458	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.3																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(523-525)Ggc>Agc		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.G175S							8	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
GRIN2A	2903	broad.mit.edu	37	16	10273879	10273879	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr16:10273879G>A	ENST00000396573.2	-	3	699	c.390C>T	c.(388-390)ggC>ggT	p.G130G	GRIN2A_ENST00000562109.1_Silent_p.G130G|GRIN2A_ENST00000330684.3_Silent_p.G130G|GRIN2A_ENST00000396575.2_Silent_p.G130G|GRIN2A_ENST00000404927.2_Silent_p.G130G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	130					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATAGATGCGCCCCCATGAA	0.597																																						uc010uym.2																			0		p.G130C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(388-390)ggC>ggT		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						54.0	49.0	51.0					16																	10273879		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10273879G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.390C>T	16.37:g.10273879G>A						GRIN2A_uc002czo.4_Silent_p.G130G|GRIN2A_uc002czr.4_Silent_p.G130G|GRIN2A_uc010buk.3_Silent_p.G130G	p.G130G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			2	700	-			130					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.390C>T	CCDS10539.1																																																																																				0.597	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
HS3ST3A1	9955	broad.mit.edu	37	17	13400088	13400088	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:13400088G>A	ENST00000284110.1	-	2	1444	c.647C>T	c.(646-648)aCg>aTg	p.T216M	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.T14M	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	216	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAACTGGGCGTCTTCTCCAT	0.622																																						uc002gob.1																			0		p.T216T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(646-648)aCg>aTg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.							58.0	67.0	64.0					17																	13400088		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400088G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.647C>T	17.37:g.13400088G>A	ENSP00000284110:p.Thr216Met						p.T216M	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	1445	-		all_lung(20;0.114)	216			Substrate binding.		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.647C>T	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868184	0.91587	.	.	ENSG00000153976	ENST00000284110	T	0.47869	0.83	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.81128	0.4758	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87298	0.2303	10	0.87932	D	0	.	19.4836	0.95020	0.0:0.0:1.0:0.0	.	216	Q9Y663	HS3SA_HUMAN	M	216	ENSP00000284110:T216M	ENSP00000284110:T216M	T	-	2	0	HS3ST3A1	13340813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.599000	0.98280	2.873000	0.98535	0.563000	0.77884	ACG		0.622	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
HEXIM1	10614	broad.mit.edu	37	17	43226653	43226653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:43226653delC	ENST00000332499.2	+	1	1970	c.96delC	c.(94-96)cgcfs	p.R32fs	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	32					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCTGAGCGCCCCCCAGGCG	0.632											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.3																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(94-96)cgcfs		Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.							54.0	65.0	61.0					17																	43226653		2203	4300	6503	SO:0001589	frameshift_variant	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43226653delC	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.96delC	17.37:g.43226653delC	ENSP00000328773:p.Arg32fs		OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.R32fs	NM_006460	NP_006451	O94992	HEXI1_HUMAN			0	1970	+			32					B2R8Y5	Frame_Shift_Del	DEL	ENST00000332499.2	37	c.96delC	CCDS11495.1																																																																																				0.632	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460	
ABCA9	10350	broad.mit.edu	37	17	67016638	67016638	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:67016638C>T	ENST00000340001.4	-	19	2702	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	ABCA9_ENST00000370732.2_Missense_Mutation_p.E831K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.E831K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	831					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCCTTGTTTCGTGGAAGGAA	0.413																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2491-2493)Gaa>Aaa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							115.0	105.0	108.0					17																	67016638		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016638C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2491G>A	17.37:g.67016638C>T	ENSP00000342216:p.Glu831Lys					ABCA9_uc010dez.3_Missense_Mutation_p.E831K	p.E831K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			18	2634	-	Breast(10;1.47e-12)		831					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2491G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911806	0.33721	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.79033	-1.23;-1.23	5.08	4.08	0.47627	.	0.750110	0.11310	N	0.577232	T	0.68128	0.2967	L	0.47716	1.5	0.09310	N	1	P;B	0.39060	0.657;0.133	B;B	0.29663	0.105;0.046	T	0.56697	-0.7936	10	0.40728	T	0.16	.	11.5706	0.50832	0.3355:0.6645:0.0:0.0	.	831;831	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	831;814;831;826	ENSP00000342216:E831K;ENSP00000359767:E831K	ENSP00000342216:E831K	E	-	1	0	ABCA9	64528233	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	1.180000	0.32005	1.209000	0.43321	0.543000	0.68304	GAA		0.413	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
LIPG	9388	broad.mit.edu	37	18	47101837	47101837	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr18:47101837C>T	ENST00000261292.4	+	5	948	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	LIPG_ENST00000577628.1_Missense_Mutation_p.R260C|LIPG_ENST00000580036.1_Missense_Mutation_p.R224C|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	224					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTACACGCGTTCCTTCGG	0.557																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(670-672)Cgt>Tgt		Homo sapiens lipase, endothelial (LIPG), mRNA.							104.0	82.0	89.0					18																	47101837		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101837C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.670C>T	18.37:g.47101837C>T	ENSP00000261292:p.Arg224Cys					LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.2_Intron	p.R224C	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			4	922	+			224					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.670C>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867051	0.51588	.	.	ENSG00000101670	ENST00000261292	D	0.90444	-2.67	5.72	3.8	0.43715	Lipase, N-terminal (1);	0.417856	0.25581	N	0.029699	D	0.93887	0.8044	M	0.78456	2.415	0.09310	N	1	D;D	0.89917	1.0;1.0	D;P	0.65987	0.94;0.901	D	0.87273	0.2287	10	0.72032	D	0.01	-34.1669	10.3289	0.43809	0.2678:0.6242:0.108:0.0	.	224;224	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	C	224	ENSP00000261292:R224C	ENSP00000261292:R224C	R	+	1	0	LIPG	45355835	0.285000	0.24296	0.012000	0.15200	0.643000	0.38383	1.158000	0.31737	1.398000	0.46701	0.591000	0.81541	CGT		0.557	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033	
TUBB4A	10382	broad.mit.edu	37	19	6495585	6495585	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:6495585G>A	ENST00000264071.2	-	4	1296	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R309C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	309					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R309C(1)									GTCAGGTAGCGGCCGTGGCGC	0.662																																						uc002mfg.1																			1	Substitution - Missense(1)	p.R309C(1)	endometrium(1)								c.(925-927)Cgc>Tgc		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							70.0	67.0	68.0					19																	6495585		2203	4299	6502	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495585G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.925C>T	19.37:g.6495585G>A	ENSP00000264071:p.Arg309Cys					TUBB4A_uc002mff.1_Missense_Mutation_p.R237C|JA429441_uc021unq.1_5'Flank	p.R309C	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	1032	-			309					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.925C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591863	0.46214	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.81996	-1.56;-1.56	3.54	3.54	0.40534	.	0.000000	0.64402	D	0.000001	D	0.86397	0.5923	H	0.94658	3.565	0.80722	D	1	P	0.41929	0.765	B	0.36608	0.229	D	0.90091	0.4177	10	0.87932	D	0	.	13.9263	0.63964	0.0:0.0:1.0:0.0	.	309	P04350	TBB4A_HUMAN	C	309;309;227	ENSP00000264071:R309C;ENSP00000443590:R309C	ENSP00000264071:R309C	R	-	1	0	TUBB4	6446585	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.589000	0.98235	1.548000	0.49413	0.306000	0.20318	CGC		0.662	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
MUC16	94025	broad.mit.edu	37	19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:9073488G>T	ENST00000397910.4	-	3	14161	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4655	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAACTTTGTTGACTGAGC	0.458																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13957-13959)aCa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							114.0	110.0	111.0					19																	9073488		1898	4114	6012	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073488G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13958C>A	19.37:g.9073488G>T	ENSP00000381008:p.Thr4653Lys						p.T4653K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	14162	-			4655			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13958C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.527	-0.096451	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.79	-0.602	0.11634	.	.	.	.	.	T	0.03095	0.0091	L	0.28115	0.83	.	.	.	P	0.44344	0.833	P	0.47744	0.556	T	0.40664	-0.9551	8	0.87932	D	0	.	3.017	0.06063	0.1907:0.2904:0.5189:0.0	.	4653	B5ME49	.	K	4653	ENSP00000381008:T4653K	ENSP00000381008:T4653K	T	-	2	0	MUC16	8934488	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.936000	0.28938	-0.081000	0.12662	0.313000	0.20887	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
GRAMD1A	57655	broad.mit.edu	37	19	35500871	35500871	+	Missense_Mutation	SNP	T	T	C			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:35500871T>C	ENST00000317991.5	+	4	512	c.320T>C	c.(319-321)aTt>aCt	p.I107T	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.I107T|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.I194T|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.I100T|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	107	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAACGCCTCATTGTGGGTGAG	0.607																																						uc010xsf.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(334-336)aTt>aCt		Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.							96.0	101.0	99.0					19																	35500871		1967	4139	6106	SO:0001583	missense	57655					integral to membrane		g.chr19:35500871T>C	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.320T>C	19.37:g.35500871T>C	ENSP00000441032:p.Ile107Thr					GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc010xse.1_Missense_Mutation_p.I107T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR	p.I112T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	335	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		107			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.335T>C	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397211	0.83120	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.88896	-2.44;-2.44	5.18	5.18	0.71444	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	M	0.92880	3.355	0.80722	D	1	P;D;P;P	0.76494	0.93;0.999;0.839;0.701	P;D;P;P	0.85130	0.736;0.997;0.697;0.503	D	0.96217	0.9157	10	0.87932	D	0	.	13.0343	0.58860	0.0:0.0:0.0:1.0	.	107;107;100;194	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	T	194;107;100	ENSP00000441032:I107T;ENSP00000439267:I100T	ENSP00000441032:I107T	I	+	2	0	GRAMD1A	40192711	1.000000	0.71417	0.970000	0.41538	0.948000	0.59901	5.962000	0.70364	2.176000	0.68965	0.477000	0.44152	ATT		0.607	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895	
ZNF610	162963	broad.mit.edu	37	19	52868955	52868955	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:52868955G>A	ENST00000403906.3	+	6	780	c.324G>A	c.(322-324)agG>agA	p.R108R	ZNF610_ENST00000327920.8_Silent_p.R108R|ZNF610_ENST00000601151.1_Silent_p.R65R|ZNF610_ENST00000321287.8_Silent_p.R108R	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTCTAGGGAGGAGCTGTGTAT	0.453																																						uc002pyx.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(322-324)agG>agA		Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.							110.0	121.0	117.0					19																	52868955		2201	4300	6501	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52868955G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.324G>A	19.37:g.52868955G>A						ZNF610_uc002pyy.4_Silent_p.R108R|ZNF610_uc002pyz.4_Silent_p.R65R|ZNF610_uc002pza.3_Silent_p.R108R	p.R108R	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	730	+			108					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.324G>A	CCDS12851.1																																																																																				0.453	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
PTPRH	5794	broad.mit.edu	37	19	55693262	55693262	+	Missense_Mutation	SNP	C	C	T	rs140496718		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:55693262C>T	ENST00000376350.3	-	20	3230	c.3208G>A	c.(3208-3210)Gta>Ata	p.V1070I	SYT5_ENST00000354308.3_5'Flank|SYT5_ENST00000590851.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.V892I|SYT5_ENST00000537500.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1070	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCAGGAATACGTACTGAGCC	0.622																																						uc002qjq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3208-3210)Gta>Ata		Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	118.0	112.0	114.0		2674,3208	3.4	0.7	19	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	29,29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging	892/938,1070/1116	55693262	5,13001	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693262C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3208G>A	19.37:g.55693262C>T	ENSP00000365528:p.Val1070Ile					PTPRH_uc010esv.3_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.V1070I	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3281	-		Renal(1328;0.245)	1070			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3208G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137772	0.56936	2.27E-4	4.65E-4	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.83163	-1.69;-1.69	4.41	3.36	0.38483	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.233843	0.22071	N	0.065021	T	0.57577	0.2063	N	0.03891	-0.335	0.39756	D	0.971963	P;P	0.46621	0.881;0.881	B;B	0.37091	0.241;0.241	T	0.58272	-0.7665	10	0.15066	T	0.55	.	9.4684	0.38826	0.0:0.8172:0.0:0.1828	.	892;1070	C9JCH2;Q9HD43	.;PTPRH_HUMAN	I	1070;892	ENSP00000365528:V1070I;ENSP00000263434:V892I	ENSP00000263434:V892I	V	-	1	0	PTPRH	60385074	0.935000	0.31712	0.736000	0.30914	0.503000	0.33858	0.631000	0.24568	1.177000	0.42855	-0.156000	0.13503	GTA		0.622	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
NT5C1B	93034	broad.mit.edu	37	2	18766137	18766137	+	Silent	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:18766137C>T	ENST00000359846.2	-	5	623	c.546G>A	c.(544-546)tcG>tcA	p.S182S	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.S122S|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.S182S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S182S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	182	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCAGCTGGGGCGACGCGGGTG	0.716																																						uc010exr.3																			0											c.(370-372)tcG>tcA		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							11.0	17.0	15.0					2																	18766137		2139	4141	6280	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18766137C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.546G>A	2.37:g.18766137C>T						NT5C1B-RDH14_uc002rcy.3_Silent_p.S182S|NT5C1B-RDH14_uc010yju.2_Silent_p.S122S|NT5C1B-RDH14_uc002rcz.3_Silent_p.S182S|NT5C1B-RDH14_uc010yjw.2_Silent_p.S165S|NT5C1B-RDH14_uc010yjv.2_Silent_p.S199S|NT5C1B-RDH14_uc010exs.3_Silent_p.S184S|NT5C1B-RDH14_uc002rda.3_Silent_p.S122S|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR	p.S124S	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			3	484	-			182			Ser-rich.		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.372G>A	CCDS33150.1																																																																																				0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
IL18R1	8809	broad.mit.edu	37	2	102988458	102988459	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:102988458_102988459delAC	ENST00000409599.1	+	5	704_705	c.348_349delAC	c.(346-351)aaacacfs	p.H117fs	IL18R1_ENST00000334376.3_Frame_Shift_Del_p.H117fs|IL18R1_ENST00000233957.1_Frame_Shift_Del_p.H117fs			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	117	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGAAATAAACACAGCTGTTT	0.277																																						uc002tbw.4																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(346-351)aaacacfs		Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.																																				SO:0001589	frameshift_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102988458_102988459delAC	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.348_349delAC	2.37:g.102988460_102988461delAC	ENSP00000387211:p.His117fs					IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.2_Frame_Shift_Del_p.K116fs	p.K116fs	NM_003855	NP_003846	Q13478	IL18R_HUMAN			3	498_499	+			116			Ig-like C2-type 1.		B2R9Y5|Q52LC9	Frame_Shift_Del	DEL	ENST00000409599.1	37	c.348_349delAC	CCDS2060.1																																																																																				0.277	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																						uc010yxx.1																			0											c.(382-384)Tag>Cag		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							2	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
CALCRL	10203	broad.mit.edu	37	2	188223966	188223966	+	Missense_Mutation	SNP	A	A	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:188223966A>T	ENST00000409998.1	-	12	1596	c.815T>A	c.(814-816)aTt>aAt	p.I272N	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I272N|CALCRL_ENST00000410068.1_Missense_Mutation_p.I272N			Q16602	CALRL_HUMAN	calcitonin receptor-like	272					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTTCTAGCAATGGCATGTAT	0.244																																						uc010frt.3																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(814-816)aTt>aAt		Homo sapiens calcitonin receptor-like (CALCRL), mRNA.							21.0	22.0	22.0					2																	188223966		2183	4284	6467	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188223966A>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.815T>A	2.37:g.188223966A>T	ENSP00000386972:p.Ile272Asn					CALCRL_uc002upv.4_Missense_Mutation_p.I272N	p.I272N	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		9	1198	-			272					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.815T>A	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308757	0.81247	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.39592	1.07;1.07;1.07	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.311468	0.26338	N	0.024953	T	0.69142	0.3078	M	0.90145	3.09	0.39977	D	0.974864	P	0.37573	0.6	P	0.55667	0.781	T	0.75637	-0.3249	10	0.87932	D	0	.	14.8031	0.69929	1.0:0.0:0.0:0.0	.	272	Q16602	CALRL_HUMAN	N	272	ENSP00000376177:I272N;ENSP00000386972:I272N;ENSP00000387190:I272N	ENSP00000376177:I272N	I	-	2	0	CALCRL	187932211	0.991000	0.36638	0.924000	0.36721	0.709000	0.40893	9.228000	0.95250	2.102000	0.63906	0.533000	0.62120	ATT		0.244	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	
BMPR2	659	broad.mit.edu	37	2	203397336	203397336	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:203397336A>G	ENST00000374580.4	+	9	1696	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	BMPR2_ENST00000374574.2_Missense_Mutation_p.E386G	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATGGCACCAGAAGTGCTAGAA	0.383																																						uc002uzf.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42	GRCh37	CM043450|CM081186	BMPR2	M		c.(1156-1158)gAa>gGa		Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.							105.0	104.0	105.0					2																	203397336		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203397336A>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1157A>G	2.37:g.203397336A>G	ENSP00000363708:p.Glu386Gly					BMPR2_uc010ftr.3_Missense_Mutation_p.E386G	p.E386G	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			8	2305	+			386			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1157A>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980030	0.92982	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.98762	-5.12;-5.12	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084158	0.85682	D	0.000000	D	0.99495	0.9820	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.964;0.995	D	0.98052	1.0388	10	0.87932	D	0	.	15.9185	0.79542	1.0:0.0:0.0:0.0	.	386;386	Q13161;Q13873	.;BMPR2_HUMAN	G	386	ENSP00000363708:E386G;ENSP00000363702:E386G	ENSP00000363702:E386G	E	+	2	0	BMPR2	203105581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.024000	0.93689	2.228000	0.72767	0.533000	0.62120	GAA		0.383	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
SCG2	7857	broad.mit.edu	37	2	224463759	224463759	+	Missense_Mutation	SNP	T	T	C			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:224463759T>C	ENST00000305409.2	-	2	474	c.242A>G	c.(241-243)tAc>tGc	p.Y81C		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACACCTTGGTAGGGATTATA	0.448																																						uc021vxk.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(241-243)tAc>tGc		Homo sapiens secretogranin II (SCG2), mRNA.							118.0	123.0	121.0					2																	224463759		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463759T>C	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.242A>G	2.37:g.224463759T>C	ENSP00000304133:p.Tyr81Cys					SCG2_uc002vnm.3_Missense_Mutation_p.Y81C	p.Y81C	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	0	242	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	81					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.242A>G	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105545	0.37145	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.01933	4.55;4.55;4.55	5.44	2.86	0.33363	.	0.382752	0.27941	N	0.017231	T	0.04998	0.0134	L	0.50333	1.59	0.34978	D	0.753845	D	0.61697	0.99	P	0.53988	0.739	T	0.35674	-0.9779	10	0.87932	D	0	.	7.762	0.28957	0.2293:0.0:0.1222:0.6485	.	81	P13521	SCG2_HUMAN	C	81	ENSP00000304133:Y81C;ENSP00000394702:Y81C;ENSP00000415468:Y81C	ENSP00000304133:Y81C	Y	-	2	0	SCG2	224172003	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	2.289000	0.43523	0.982000	0.38575	0.477000	0.44152	TAC		0.448	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
ANGPT4	51378	broad.mit.edu	37	20	853677	853677	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:853677G>A	ENST00000381922.3	-	9	1540	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	480	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TAGTGCCAGCGGATGCCGTCC	0.587																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1438-1440)Cgc>Tgc		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							124.0	110.0	115.0					20																	853677		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853677G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1438C>T	20.37:g.853677G>A	ENSP00000371347:p.Arg480Cys					ANGPT4_uc010zpn.2_3'UTR	p.R480C	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			8	1541	-			480			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1438C>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800422	0.70567	.	.	ENSG00000101280	ENST00000381922	T	0.20738	2.05	4.4	3.45	0.39498	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.080893	0.49305	D	0.000152	T	0.24736	0.0600	N	0.16266	0.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03739	-1.1008	10	0.39692	T	0.17	.	6.7971	0.23731	0.0904:0.0:0.7359:0.1737	.	480	Q9Y264	ANGP4_HUMAN	C	480	ENSP00000371347:R480C	ENSP00000371347:R480C	R	-	1	0	ANGPT4	801677	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.620000	0.67736	1.070000	0.40811	0.491000	0.48974	CGC		0.587	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
DPM1	8813	broad.mit.edu	37	20	49576424	49576424	+	5'Flank	SNP	G	G	C			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:49576424G>C	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.A349P	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGATTCTGGGGCATTCCACCT	0.552																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1045-1047)Gca>Cca		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.							183.0	182.0	182.0					20																	49576424		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576424G>C	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576424G>C	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.A349P	NM_014484	NP_055299	O95396	MOCS3_HUMAN			0	1062	+			349			Rhodanese.		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.1045G>C	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	8.098	0.776018	0.16051	.	.	ENSG00000124217	ENST00000244051	T	0.29917	1.55	5.01	-3.57	0.04612	Rhodanese-like (3);Molybdenum cofactor biosynthesis, MoeB (1);	1.047640	0.07420	N	0.893763	T	0.19087	0.0458	N	0.25201	0.72	0.09310	N	1	B	0.26672	0.156	B	0.28849	0.095	T	0.34179	-0.9839	9	.	.	.	0.0024	9.6234	0.39734	0.1741:0.0:0.6949:0.1311	.	349	O95396	MOCS3_HUMAN	P	349	ENSP00000244051:A349P	.	A	+	1	0	MOCS3	49009831	0.005000	0.15991	0.018000	0.16275	0.647000	0.38526	0.167000	0.16602	-0.774000	0.04590	0.561000	0.74099	GCA		0.552	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-	rs369631764		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_ENST00000399804.1_In_Frame_Del_p.Q944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.Q951del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581																																						uc002ypd.2																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2896-2901)cagcca>cca		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044257_33044259delGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899delAGC	21.37:g.33044266_33044268delGCT	ENSP00000286835:p.Gln966del					SCAF4_uc002ype.2_In_Frame_Del_p.Q944del|SCAF4_uc010glu.2_In_Frame_Del_p.Q951del	p.Q966del	NM_020706	NP_065757	O95104	SFR15_HUMAN			19	3323_3325	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.2897_2899delAGC	CCDS33537.1																																																																																				0.581	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
TRPM2	7226	broad.mit.edu	37	21	45798938	45798938	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr21:45798938G>A	ENST00000397928.1	+	8	1518	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TRPM2_ENST00000300482.5_Missense_Mutation_p.R358H|TRPM2_ENST00000300481.9_Missense_Mutation_p.R358H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R358H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	358					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCTCGGGCCGCGTGGCCGAC	0.622																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1072-1074)cGc>cAc		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							82.0	67.0	72.0					21																	45798938		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45798938G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1073G>A	21.37:g.45798938G>A	ENSP00000381023:p.Arg358His					TRPM2_uc002zet.1_Missense_Mutation_p.R358H|TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H	p.R358H	NM_003307	NP_003298	O94759	TRPM2_HUMAN			7	1173	+			358					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1073G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623711	0.87460	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	3.84	3.84	0.44239	.	0.123647	0.52532	D	0.000068	T	0.66982	0.2845	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.77558	-0.2543	10	0.72032	D	0.01	-28.2498	15.9747	0.80054	0.0:0.0:1.0:0.0	.	358;358	E9PGK7;O94759	.;TRPM2_HUMAN	H	358	ENSP00000300482:R358H;ENSP00000381023:R358H;ENSP00000300481:R358H;ENSP00000381026:R358H	ENSP00000300481:R358H	R	+	2	0	TRPM2	44623366	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	9.161000	0.94739	1.971000	0.57363	0.563000	0.77884	CGC		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
OR5K4	403278	broad.mit.edu	37	3	98072818	98072818	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr3:98072818G>A	ENST00000354924.2	+	1	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41W(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CACCATGGTGGGGAATCTTGG	0.458																																						uc011bgv.2																			1	Substitution - Missense(1)	p.G41W(2)|p.V40V(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(121-123)Ggg>Agg		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.							246.0	239.0	241.0					3																	98072818		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072818G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.121G>A	3.37:g.98072818G>A	ENSP00000347003:p.Gly41Arg						p.G41R	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			0	121	+			41						Missense_Mutation	SNP	ENST00000354924.2	37	c.121G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672977	0.67928	.	.	ENSG00000196098	ENST00000354924	T	0.04406	3.63	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33217	U	0.005147	T	0.29458	0.0734	M	0.92412	3.305	0.35981	D	0.836026	D	0.89917	1.0	D	0.97110	1.0	T	0.50030	-0.8875	10	0.87932	D	0	-13.4154	15.6545	0.77124	0.0:0.0:1.0:0.0	.	41	A6NMS3	OR5K4_HUMAN	R	41	ENSP00000347003:G41R	ENSP00000347003:G41R	G	+	1	0	OR5K4	99555508	0.915000	0.31059	1.000000	0.80357	0.828000	0.46876	3.370000	0.52372	2.618000	0.88619	0.603000	0.83216	GGG		0.458	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
ADAM29	11086	broad.mit.edu	37	4	175897608	175897608	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr4:175897608G>A	ENST00000359240.3	+	5	1602	c.932G>A	c.(931-933)cGt>cAt	p.R311H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.R311H|ADAM29_ENST00000445694.1_Missense_Mutation_p.R311H|ADAM29_ENST00000404450.4_Missense_Mutation_p.R311H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	311	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCACACCGTAGTTGTGCA	0.428																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(931-933)cGt>cAt		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							154.0	152.0	153.0					4																	175897608		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897608G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.932G>A	4.37:g.175897608G>A	ENSP00000352177:p.Arg311His					ADAM29_uc003iud.3_Missense_Mutation_p.R311H|ADAM29_uc010irr.3_Missense_Mutation_p.R311H|ADAM29_uc011cki.2_Missense_Mutation_p.R311H|ADAM29_uc021xuo.1_Missense_Mutation_p.R311H	p.R311H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1602	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	311			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.932G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	3.760	-0.049886	0.07407	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.23	-8.45	0.00946	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	7.522170	0.00520	U	0.000190	T	0.07728	0.0194	L	0.37697	1.125	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.15896	-1.0421	9	.	.	.	.	6.2556	0.20872	0.1744:0.0:0.3164:0.5092	.	311	Q9UKF5	ADA29_HUMAN	H	311	ENSP00000352177:R311H;ENSP00000414544:R311H;ENSP00000384229:R311H;ENSP00000423517:R311H	.	R	+	2	0	ADAM29	176134183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.746000	0.00377	-2.599000	0.00452	-0.183000	0.12914	CGT		0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
SLC6A3	6531	broad.mit.edu	37	5	1409844	1409844	+	Missense_Mutation	SNP	C	C	T	rs140401978	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:1409844C>T	ENST00000270349.9	-	10	1517	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V464I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	464					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACGTTGGTGACGCAGAACAGG	0.612																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1390-1392)Gtc>Atc		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	197.0	144.0	162.0		1390	4.2	1.0	5	dbSNP_134	162	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLC6A3	NM_001044.4	29	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	possibly-damaging	464/621	1409844	7,12999	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409844C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1390G>A	5.37:g.1409844C>T	ENSP00000270349:p.Val464Ile						p.V464I	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		9	1516	-			464					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1390G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710204	0.30322	4.54E-4	5.81E-4	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	L	0.33753	1.03	0.58432	D	0.999992	P	0.44478	0.836	B	0.42112	0.376	T	0.62732	-0.6792	10	0.02654	T	1	.	14.0096	0.64488	0.0:1.0:0.0:0.0	.	464	Q01959	SC6A3_HUMAN	I	464	ENSP00000270349:V464I;ENSP00000399806:V464I	ENSP00000270349:V464I	V	-	1	0	SLC6A3	1462844	0.998000	0.40836	0.986000	0.45419	0.454000	0.32378	3.358000	0.52284	1.880000	0.54463	0.478000	0.44815	GTC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	
ZFYVE16	9765	broad.mit.edu	37	5	79768699	79768699	+	Missense_Mutation	SNP	G	G	A	rs550518358		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:79768699G>A	ENST00000338008.5	+	15	4324	c.4144G>A	c.(4144-4146)Gtg>Atg	p.V1382M	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V1382M|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V1382M	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1382					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GAGAGAATACGTGGATATCTG	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		16373	0.0		0.0	False		,,,				2504	0.001				Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.4																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4144-4146)Gtg>Atg		Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.							88.0	89.0	89.0					5																	79768699		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79768699G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4144G>A	5.37:g.79768699G>A	ENSP00000337159:p.Val1382Met					ZFYVE16_uc003kgq.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgs.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgt.4_Missense_Mutation_p.V470M|ZFYVE16_uc003kgu.4_Missense_Mutation_p.V134M	p.V1382M	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	15	4446	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1382					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.4144G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789294	0.90367	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.62105	0.05;0.05;0.05	5.74	5.74	0.90152	Domain of unknown function DUF3480 (1);	0.000000	0.50627	D	0.000117	T	0.81513	0.4838	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.82926	-0.0215	10	0.72032	D	0.01	-9.9247	19.5301	0.95225	0.0:0.0:1.0:0.0	.	192;1382	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	M	1382	ENSP00000337159:V1382M;ENSP00000423663:V1382M;ENSP00000426848:V1382M	ENSP00000337159:V1382M	V	+	1	0	ZFYVE16	79804455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.774000	0.91767	2.703000	0.92315	0.655000	0.94253	GTG		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ACOT12	134526	broad.mit.edu	37	5	80643625	80643625	+	Silent	SNP	C	C	T	rs150238683	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:80643625C>T	ENST00000307624.3	-	6	649	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	207	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCTCCATCCACGCCATAATCT	0.502																																						uc003khl.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(619-621)gcG>gcA		Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.							245.0	240.0	242.0					5																	80643625		2203	4300	6503	SO:0001819	synonymous_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643625C>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.621G>A	5.37:g.80643625C>T						RNU5E-1_uc011cto.1_Intron	p.A207A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	5	676	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	207			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	c.621G>A	CCDS4055.1																																																																																				0.502	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
PCSK1	5122	broad.mit.edu	37	5	95735874	95735874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:95735874G>A	ENST00000311106.3	-	10	1450	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.R358*|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	405	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGCATATCTCGCCAGGTGAGA	0.478																																						uc003kls.2																			0		p.R405Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1213-1215)Cga>Tga		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						86.0	83.0	84.0					5																	95735874		2203	4300	6503	SO:0001587	stop_gained	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735874G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1213C>T	5.37:g.95735874G>A	ENSP00000308024:p.Arg405*					PCSK1_uc010jbi.2_Nonsense_Mutation_p.R95*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.R358*	p.R405*	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1452	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	405			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Nonsense_Mutation	SNP	ENST00000311106.3	37	c.1213C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	38	6.877188	0.97904	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	5.24	-5.3	0.02738	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0388	20.1194	0.97954	0.0:0.0:0.1446:0.8554	.	.	.	.	X	405;358	.	ENSP00000308024:R405X	R	-	1	2	PCSK1	95761630	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	0.721000	0.25911	-0.611000	0.05709	-0.321000	0.08615	CGA		0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
PCDHA9	9752	broad.mit.edu	37	5	140230084	140230084	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140230084G>A	ENST00000532602.1	+	1	3037	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S668S|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGTCGCTGGTGGAGA	0.677																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2002-2004)tcG>tcA		Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.							43.0	47.0	46.0					5																	140230084		2197	4267	6464	SO:0001819	synonymous_variant	9752				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140230084G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2004G>A	5.37:g.140230084G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S668S	p.S668S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2728	+			679			Cadherin 6.		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2004G>A	CCDS54920.1																																																																																				0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHGA12	26025	broad.mit.edu	37	5	140811313	140811313	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512																																						uc003lkt.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(985-987)gcG>gcA		Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.							136.0	126.0	129.0					5																	140811313		2203	4300	6503	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811313G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.987G>A	5.37:g.140811313G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.A329A	p.A329A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1156	+			332			Cadherin 3.		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.987G>A	CCDS4260.1																																																																																				0.512	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
FAM50B	26240	broad.mit.edu	37	6	3850733	3850733	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:3850733G>A	ENST00000380274.1	+	1	1114	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	FAM50B_ENST00000380272.3_Missense_Mutation_p.A230T			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCTGCGCTCCGCCGGCGTGGA	0.652																																						uc003mvu.3																			0		p.A230A(1)|p.S229F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(688-690)Gcc>Acc		Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.							52.0	49.0	50.0					6																	3850733		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850733G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.688G>A	6.37:g.3850733G>A	ENSP00000369627:p.Ala230Thr					FAM50B_uc021ykt.1_Missense_Mutation_p.A230T	p.A230T	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			1	800	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	230					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.688G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086290	0.55861	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	4.34	0.51931	.	0.059829	0.64402	D	0.000004	T	0.34629	0.0904	L	0.39147	1.195	0.48288	D	0.999625	P	0.37101	0.582	B	0.32805	0.153	T	0.43956	-0.9359	9	0.51188	T	0.08	-24.7751	14.8117	0.70000	0.0:0.0:1.0:0.0	.	230	Q9Y247	FA50B_HUMAN	T	230	.	ENSP00000369625:A230T	A	+	1	0	FAM50B	3795732	1.000000	0.71417	0.025000	0.17156	0.987000	0.75469	7.502000	0.81614	2.430000	0.82344	0.555000	0.69702	GCC		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135	
GPX5	2880	broad.mit.edu	37	6	28497327	28497327	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:28497327C>T	ENST00000412168.2	+	2	276	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	GPX5_ENST00000469384.1_Missense_Mutation_p.H63Y|GPX5_ENST00000442674.2_3'UTR|GPX6_ENST00000483058.1_5'Flank	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	63					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTGGGCAAGCACATCCTCTT	0.443																																						uc003nll.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(187-189)Cac>Tac		Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	Glutathione(DB00143)						163.0	129.0	141.0					6																	28497327		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497327C>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.187C>T	6.37:g.28497327C>T	ENSP00000392398:p.His63Tyr					GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_Non-coding_Transcript	p.H63Y	NM_001509	NP_001500	O75715	GPX5_HUMAN			1	189	+			63					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.187C>T	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	2.902	-0.227358	0.06022	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03689	3.84;3.84	3.72	2.79	0.32731	Thioredoxin-like fold (2);	0.951278	0.08804	N	0.891268	T	0.01124	0.0037	L	0.32530	0.975	0.32937	D	0.517898	B;B	0.25272	0.122;0.003	B;B	0.24974	0.057;0.017	T	0.44112	-0.9349	10	0.28530	T	0.3	-8.766	5.2416	0.15475	0.0:0.7205:0.0:0.2795	.	63;63	A1A4Y0;O75715	.;GPX5_HUMAN	Y	63	ENSP00000392398:H63Y;ENSP00000419935:H63Y	ENSP00000392398:H63Y	H	+	1	0	GPX5	28605306	0.006000	0.16342	0.893000	0.35052	0.600000	0.36913	0.096000	0.15147	1.028000	0.39785	0.655000	0.94253	CAC		0.443	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
FAM83B	222584	broad.mit.edu	37	6	54805279	54805279	+	Missense_Mutation	SNP	C	C	T	rs115872183	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:54805279C>T	ENST00000306858.7	+	5	1626	c.1510C>T	c.(1510-1512)Cat>Tat	p.H504Y	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	504										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAATGATCATTCAGAAGC	0.408													C|||	11	0.00219649	0.0	0.0029	5008	,	,		19718	0.0		0.0089	False		,,,				2504	0.0					uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1510-1512)Cat>Tat		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.		C	TYR/HIS	8,4398	11.4+/-27.6	0,8,2195	94.0	94.0	94.0		1510	2.6	0.9	6	dbSNP_132	94	59,8541	36.4+/-91.3	0,59,4241	yes	missense	FAM83B	NM_001010872.1	83	0,67,6436	TT,TC,CC		0.686,0.1816,0.5151	benign	504/1012	54805279	67,12939	2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805279C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1510C>T	6.37:g.54805279C>T	ENSP00000304078:p.His504Tyr						p.H504Y	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	1626	+	Lung NSC(77;0.0178)|Renal(3;0.122)		504					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1510C>T	CCDS34479.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	C	7.692	0.691362	0.15039	0.001816	0.00686	ENSG00000168143	ENST00000306858	T	0.31247	1.5	5.56	2.58	0.30949	.	0.689610	0.15133	N	0.278709	T	0.05135	0.0137	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.39482	-0.9612	10	0.36615	T	0.2	-2.083	8.4042	0.32605	0.4695:0.4597:0.0:0.0709	.	504	Q5T0W9	FA83B_HUMAN	Y	504	ENSP00000304078:H504Y	ENSP00000304078:H504Y	H	+	1	0	FAM83B	54913238	0.827000	0.29292	0.949000	0.38748	0.966000	0.64601	1.085000	0.30840	0.285000	0.22329	0.655000	0.94253	CAT		0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
DNAH11	8701	broad.mit.edu	37	7	21658736	21658736	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:21658736G>A	ENST00000409508.3	+	24	4304	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.E1430K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1430	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAATAAATGAAGCCACAAC	0.418									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4288-4290)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							58.0	57.0	57.0					7																	21658736		1846	4099	5945	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21658736G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4273G>A	7.37:g.21658736G>A	ENSP00000475939:p.Glu1425Lys						p.E1430K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			23	4319	+			1430			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4288G>A		.	.	.	.	.	.	.	.	.	.	G	15.48	2.846801	0.51164	.	.	ENSG00000105877	ENST00000328843	T	0.61980	0.06	5.63	5.63	0.86233	Dynein heavy chain, domain-2 (1);	0.115969	0.64402	D	0.000013	T	0.55321	0.1913	.	.	.	0.54753	D	0.999988	B	0.19200	0.034	B	0.24394	0.053	T	0.47142	-0.9140	9	0.25106	T	0.35	.	19.6898	0.95996	0.0:0.0:1.0:0.0	.	1430	Q96DT5	DYH11_HUMAN	K	1430	ENSP00000330671:E1430K	ENSP00000330671:E1430K	E	+	1	0	DNAH11	21625261	1.000000	0.71417	0.391000	0.26233	0.901000	0.52897	6.174000	0.71943	2.669000	0.90835	0.655000	0.94253	GAA		0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
EGFR	1956	broad.mit.edu	37	7	55211079	55211079	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55211079A>G	ENST00000275493.2	+	3	499	c.322A>G	c.(322-324)Aga>Gga	p.R108G	EGFR_ENST00000342916.3_Missense_Mutation_p.R108G|EGFR_ENST00000344576.2_Missense_Mutation_p.R108G|EGFR_ENST00000420316.2_Missense_Mutation_p.R108G|EGFR_ENST00000454757.2_Missense_Mutation_p.R55G|EGFR_ENST00000455089.1_Missense_Mutation_p.R108G|EGFR_ENST00000442591.1_Missense_Mutation_p.R108G	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)			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)	GCAGATCATCAGAGGAAATAT	0.418		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		0		p.R108K(7)|p.V30_R297>G(5)		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						c.(322-324)Aga>Gga		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	118.0	118.0					7																	55211079		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.chr7:55211079A>G		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.322A>G	7.37:g.55211079A>G	ENSP00000275493:p.Arg108Gly	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108G|EGFR_uc003tqi.3_Missense_Mutation_p.R108G|EGFR_uc003tqj.3_Missense_Mutation_p.R108G|EGFR_uc022adm.1_Missense_Mutation_p.R108G|EGFR_uc010kzg.2_Missense_Mutation_p.R108G|EGFR_uc022adn.1_Missense_Mutation_p.R108G|EGFR_uc011kco.2_Missense_Mutation_p.R55G	p.R108G	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)		2	568	+	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					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.322A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489576	0.84962	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.31	-7.85	0.01192	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	M	0.89785	3.06	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88839	0.3311	10	0.72032	D	0.01	.	24.4066	0.99990	0.1445:0.8555:0.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	G	108;108;108;108;108;108;55;55	ENSP00000415559:R108G;ENSP00000342376:R108G;ENSP00000345973:R108G;ENSP00000413843:R108G;ENSP00000275493:R108G;ENSP00000410031:R108G;ENSP00000413354:R55G;ENSP00000395243:R55G	ENSP00000275493:R108G	R	+	1	2	EGFR	55178573	0.535000	0.26370	0.744000	0.31058	0.954000	0.61252	0.221000	0.17680	-0.972000	0.03559	0.533000	0.62120	AGA		0.418	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55223543C>T	ENST00000275493.2	+	8	1087	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_ENST00000342916.3_Missense_Mutation_p.H304Y|EGFR_ENST00000344576.2_Missense_Mutation_p.H304Y|EGFR_ENST00000420316.2_Missense_Mutation_p.H304Y|EGFR_ENST00000454757.2_Missense_Mutation_p.H251Y|EGFR_ENST00000455089.1_Missense_Mutation_p.H259Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H304Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					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)			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)	GGTGACAGATCACGGCTCGTG	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.3		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"""		0		p.D303H(1)		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						c.(910-912)Cac>Tac		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	61.0	62.0					7																	55223543		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.chr7:55223543C>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.910C>T	7.37:g.55223543C>T	ENSP00000275493:p.His304Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.H304Y	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	1156	+	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)		304					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.910C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802534	0.16397	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.82923	2.615	0.80722	D	1	B;B;B;B;B	0.33288	0.003;0.001;0.406;0.065;0.047	B;B;B;B;B	0.30316	0.005;0.01;0.114;0.024;0.056	T	0.64279	-0.6445	10	0.02654	T	1	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	259;304;304;304;304	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	259;304;174;304;304;304;304;251;98	ENSP00000415559:H259Y;ENSP00000342376:H304Y;ENSP00000345973:H304Y;ENSP00000413843:H304Y;ENSP00000275493:H304Y;ENSP00000410031:H304Y;ENSP00000395243:H251Y	ENSP00000275493:H304Y	H	+	1	0	EGFR	55191037	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.344000	0.52174	2.655000	0.90218	0.655000	0.94253	CAC		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-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_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.3		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(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(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						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	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.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	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)		14	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					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	
PCLO	27445	broad.mit.edu	37	7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:82585035G>A	ENST00000333891.9	-	5	5571	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1745L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTGACTCGGGCTACTGTC	0.488																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5233-5235)cCg>cTg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							149.0	140.0	143.0					7																	82585035		1996	4194	6190	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585035G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5234C>T	7.37:g.82585035G>A	ENSP00000334319:p.Pro1745Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1745L	p.P1745L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	5523	-			1676						Missense_Mutation	SNP	ENST00000333891.9	37	c.5234C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080258	0.36662	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.67345	-0.26;-0.21	5.56	5.56	0.83823	.	.	.	.	.	T	0.73171	0.3553	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77270	-0.2650	9	0.87932	D	0	.	19.5248	0.95199	0.0:0.0:1.0:0.0	.	1745;1745	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1676;1745;1745	ENSP00000334319:P1745L;ENSP00000388393:P1745L	ENSP00000334319:P1745L	P	-	2	0	PCLO	82422971	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.835000	0.99442	2.624000	0.88883	0.650000	0.86243	CCG		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
DYNC1I1	1780	broad.mit.edu	37	7	95442583	95442583	+	Missense_Mutation	SNP	C	C	T	rs532833915		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:95442583C>T	ENST00000324972.6	+	4	492	c.299C>T	c.(298-300)tCg>tTg	p.S100L	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S83L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S83L|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.S83L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S100L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S83L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S83L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	100	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTCCCTCCTCGAAATCAGTG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16445	0.0		0.0	False		,,,				2504	0.0					uc003uoc.4																			0		p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(298-300)tCg>tTg		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							98.0	97.0	98.0					7																	95442583		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442583C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.299C>T	7.37:g.95442583C>T	ENSP00000320130:p.Ser100Leu					DYNC1I1_uc003uod.4_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.S89L	p.S100L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		3	576	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		100			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.299C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937718	0.73557	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T	0.75367	-0.67;-0.7;-0.93;-0.68;-0.71;-0.67	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000015	T	0.67767	0.2928	L	0.54323	1.7	0.40586	D	0.981442	B;B;B;B;P	0.45768	0.308;0.175;0.434;0.109;0.866	B;B;B;B;B	0.39258	0.043;0.063;0.093;0.029;0.295	T	0.67074	-0.5762	10	0.09084	T	0.74	-4.3131	18.8307	0.92137	0.0:1.0:0.0:0.0	.	83;100;83;100;83	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	83;83;100;83;100;83;83;83;83	ENSP00000392337:S83L;ENSP00000320130:S100L;ENSP00000438377:S83L;ENSP00000398118:S100L;ENSP00000352348:S83L;ENSP00000412444:S83L	ENSP00000320130:S100L	S	+	2	0	DYNC1I1	95280519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.826000	0.69293	2.861000	0.98227	0.655000	0.94253	TCG		0.468	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
OR2A7	401427	broad.mit.edu	37	7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T	rs531461622		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:143956670C>T	ENST00000493325.1	-	1	145	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													c|||	1	0.000199681	0.0008	0.0	5008	,	,		31715	0.0		0.0	False		,,,				2504	0.0					uc011kuc.2																			0		p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(52-54)Gtt>Att		Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.							100.0	128.0	118.0					7																	143956670		2201	4297	6498	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956670C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.52G>A	7.37:g.143956670C>T	ENSP00000420502:p.Val18Ile					OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	p.V18I	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			0	52	-	Melanoma(164;0.14)		18					B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.52G>A	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	c	0.608	-0.826223	0.02734	.	.	ENSG00000243896	ENST00000493325	T	0.00433	7.43	3.21	-3.87	0.04218	.	.	.	.	.	T	0.00178	0.0005	N	0.04245	-0.25	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20273	-1.0280	9	0.39692	T	0.17	.	4.6601	0.12637	0.0891:0.4935:0.1752:0.2422	.	18	Q96R45	OR2A7_HUMAN	I	18	ENSP00000420502:V18I	ENSP00000420502:V18I	V	-	1	0	OR2A7	143587603	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.569000	0.00915	-0.991000	0.03476	-1.490000	0.00973	GTT		0.498	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1		
MTUS1	57509	broad.mit.edu	37	8	17503489	17503489	+	Missense_Mutation	SNP	C	C	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:17503489C>A	ENST00000262102.6	-	15	3983	c.3759G>T	c.(3757-3759)ttG>ttT	p.L1253F	MTUS1_ENST00000381861.3_Missense_Mutation_p.L500F|MTUS1_ENST00000544260.1_Missense_Mutation_p.L398F|MTUS1_ENST00000519263.1_Missense_Mutation_p.L1199F|MTUS1_ENST00000297488.6_Missense_Mutation_p.L419F|MTUS1_ENST00000381869.3_Missense_Mutation_p.L1199F|MTUS1_ENST00000400046.1_Missense_Mutation_p.L325F	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1253					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTGGTGACTGCAAAGGGATGG	0.537																																						uc003wxv.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(3757-3759)ttG>ttT		Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.							61.0	65.0	64.0					8																	17503489		1919	4139	6058	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17503489C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3759G>T	8.37:g.17503489C>A	ENSP00000262102:p.Leu1253Phe					MTUS1_uc003wxt.3_Missense_Mutation_p.L500F|MTUS1_uc011kyg.2_Missense_Mutation_p.L398F|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.L1199F|MTUS1_uc003wxs.3_Missense_Mutation_p.L419F	p.L1253F	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	14	4233	-			1253					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.3759G>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.135973	0.01742	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.19394	3.18;2.41;2.15;2.4;2.41;3.19;3.18	4.55	-3.56	0.04626	.	0.299159	0.38605	N	0.001632	T	0.04861	0.0131	N	0.02368	-0.58	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.13407	0.002;0.002;0.009;0.002	T	0.44205	-0.9343	10	0.02654	T	1	-2.8647	6.7876	0.23682	0.3058:0.3088:0.3854:0.0	.	1199;1253;500;419	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	F	1199;398;325;419;500;1253;1199	ENSP00000371293:L1199F;ENSP00000445738:L398F;ENSP00000382921:L325F;ENSP00000297488:L419F;ENSP00000371285:L500F;ENSP00000262102:L1253F;ENSP00000430167:L1199F	ENSP00000262102:L1253F	L	-	3	2	MTUS1	17547769	1.000000	0.71417	0.872000	0.34217	0.356000	0.29392	1.299000	0.33424	-0.720000	0.04935	-0.128000	0.14901	TTG		0.537	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
TG	7038	broad.mit.edu	37	8	133925395	133925395	+	Silent	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:133925395C>T	ENST00000220616.4	+	20	4303	c.4263C>T	c.(4261-4263)acC>acT	p.T1421T	TG_ENST00000377869.1_Silent_p.T1421T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1421					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCGGAAACCATCCGCTTCC	0.562																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4261-4263)acC>acT		Homo sapiens thyroglobulin (TG), mRNA.							114.0	93.0	100.0					8																	133925395		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925395C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4263C>T	8.37:g.133925395C>T						TG_uc010mdw.3_Silent_p.T180T	p.T1421T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4304	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1421					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4263C>T	CCDS34944.1																																																																																				0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
AKNA	80709	broad.mit.edu	37	9	117099371	117099371	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr9:117099371C>T	ENST00000307564.4	-	22	4444	c.4283G>A	c.(4282-4284)cGc>cAc	p.R1428H	AKNA_ENST00000223791.3_Missense_Mutation_p.R888H|AKNA_ENST00000374079.4_Missense_Mutation_p.R373H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.R1428H|AKNA_ENST00000374075.5_Missense_Mutation_p.R1347H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1428					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGAGCCTGGCGCAGGTCGGC	0.682																																						uc004biq.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4282-4284)cGc>cAc		Homo sapiens AT-hook transcription factor (AKNA), mRNA.							10.0	13.0	12.0					9																	117099371		2196	4292	6488	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099371C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4283G>A	9.37:g.117099371C>T	ENSP00000303769:p.Arg1428His					AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H	p.R1428H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			20	4418	-			1428					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4283G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311895	0.60414	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.18960	2.65;2.18;2.65;2.43;2.65	5.26	1.95	0.26073	.	.	.	.	.	T	0.10508	0.0257	N	0.14661	0.345	0.31438	N	0.672283	B;B	0.25169	0.072;0.119	B;B	0.16722	0.007;0.016	T	0.17198	-1.0377	9	0.36615	T	0.2	13.0897	5.5756	0.17220	0.0:0.6027:0.0:0.3973	.	1428;1347	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	H	1428;373;1428;888;1347	ENSP00000303769:R1428H;ENSP00000363192:R373H;ENSP00000363201:R1428H;ENSP00000223791:R888H;ENSP00000363188:R1347H	ENSP00000223791:R888H	R	-	2	0	AKNA	116139192	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.816000	0.38992	0.546000	0.28920	0.655000	0.94253	CGC		0.682	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
AK8	158067	broad.mit.edu	37	9	135702270	135702270	+	Missense_Mutation	SNP	T	T	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr9:135702270T>G	ENST00000298545.3	-	8	1249	c.728A>C	c.(727-729)gAc>gCc	p.D243A	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	243	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D243A(4)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ACATGGCTGGTCAGCACTGAT	0.557																																						uc004cbu.1																			4	Substitution - Missense(4)	p.D243A(6)	prostate(2)|kidney(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(727-729)gAc>gCc		Homo sapiens adenylate kinase 8 (AK8), mRNA.							166.0	141.0	149.0					9																	135702270		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702270T>G	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.728A>C	9.37:g.135702270T>G	ENSP00000298545:p.Asp243Ala					AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.D39A	p.D243A	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN			7	1284	-			243					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.728A>C	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102259	0.76983	.	.	ENSG00000165695	ENST00000298545	T	0.44881	0.91	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.68593	2.085	0.47949	D	0.999555	D	0.89917	1.0	D	0.74023	0.982	T	0.63567	-0.6608	10	0.51188	T	0.08	-38.791	14.1325	0.65263	0.0:0.0:0.0:1.0	.	243	Q96MA6	KAD8_HUMAN	A	243	ENSP00000298545:D243A	ENSP00000298545:D243A	D	-	2	0	AK8	134692091	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.044000	0.71012	1.938000	0.56188	0.379000	0.24179	GAC		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	
