#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
MASP2	10747	broad.mit.edu	37	1	11107017	11107017	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:11107017G>A	ENST00000400897.3	-	2	180	c.165C>T	c.(163-165)taC>taT	p.Y55Y	MASP2_ENST00000400898.3_Silent_p.Y55Y	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	55	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGCAGGCGGTAGCCGGGGG	0.657																																					GBM(35;611 746 20780 22741 36496)	uc001aru.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(163-165)taC>taT		Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.							22.0	27.0	25.0					1																	11107017		2186	4277	6463	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11107017G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.165C>T	1.37:g.11107017G>A						MASP2_uc001arv.3_Silent_p.Y55Y|MASP2_uc001arw.3_Silent_p.Y55Y|MASP2_uc001arx.2_Silent_p.Y55Y	p.Y55Y	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	1	197	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	55			CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.165C>T	CCDS123.1																																																																																				0.657	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
ZNF362	149076	broad.mit.edu	37	1	33745906	33745906	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:33745906G>C	ENST00000539719.1	+	5	701	c.531G>C	c.(529-531)aaG>aaC	p.K177N	ZNF362_ENST00000373428.5_Missense_Mutation_p.K177N	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACTCCATCAAGACAATCCAGG	0.667																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(529-531)aaG>aaC		Homo sapiens zinc finger protein 362 (ZNF362), mRNA.							65.0	61.0	63.0					1																	33745906		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745906G>C		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.531G>C	1.37:g.33745906G>C	ENSP00000446335:p.Lys177Asn						p.K177N	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			4	701	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	177					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.531G>C	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338092	0.60963	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.07567	3.18;3.18	5.99	5.99	0.97316	.	0.468769	0.18082	N	0.152272	T	0.14270	0.0345	M	0.63428	1.95	0.48135	D	0.999593	P	0.43477	0.808	B	0.39706	0.307	T	0.00636	-1.1633	10	0.72032	D	0.01	-20.7364	18.0311	0.89285	0.0:0.0:1.0:0.0	.	177	Q5T0B9	ZN362_HUMAN	N	164;177;177	ENSP00000446335:K177N;ENSP00000362527:K177N	ENSP00000362527:K177N	K	+	3	2	ZNF362	33518493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.584000	0.60971	2.857000	0.98124	0.650000	0.86243	AAG		0.667	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493	
KLF17	128209	broad.mit.edu	37	1	44595485	44595485	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:44595485G>A	ENST00000372299.3	+	2	600	c.542G>A	c.(541-543)gGc>gAc	p.G181D	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	181					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTTACCCTGGCCTCTCGACA	0.597																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(541-543)gGc>gAc		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							58.0	60.0	59.0					1																	44595485		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595485G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.542G>A	1.37:g.44595485G>A	ENSP00000361373:p.Gly181Asp					KLF17_uc009vxf.1_Missense_Mutation_p.G144D	p.G181D	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			1	600	+	Acute lymphoblastic leukemia(166;0.155)		181					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.542G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233609	0.22626	.	.	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.63	-3.54	0.04653	.	1.892480	0.02554	N	0.096010	T	0.07728	0.0194	L	0.32530	0.975	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	T	0.30592	-0.9973	10	0.22109	T	0.4	.	3.9864	0.09517	0.4646:0.0:0.2469:0.2884	.	181	Q5JT82	KLF17_HUMAN	D	181	ENSP00000361373:G181D	ENSP00000361373:G181D	G	+	2	0	KLF17	44368072	0.005000	0.15991	0.001000	0.08648	0.009000	0.06853	-0.446000	0.06837	-0.688000	0.05155	-0.157000	0.13467	GGC		0.597	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	
LRRC7	57554	broad.mit.edu	37	1	70489054	70489054	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:70489054A>T	ENST00000035383.5	+	15	1707	c.1677A>T	c.(1675-1677)agA>agT	p.R559S	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.R564S|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	559						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAGTGGCAGACAGGTAGGCC	0.507																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1675-1677)agA>agT		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							106.0	106.0	106.0					1																	70489054		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70489054A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1677A>T	1.37:g.70489054A>T	ENSP00000035383:p.Arg559Ser					LRRC7_uc009wbg.3_Intron	p.R559S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			14	1707	+			559					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1677A>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036120	0.35893	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.35789	1.29;1.36	5.86	5.86	0.93980	.	0.216246	0.41396	D	0.000887	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19679	-1.0298	10	0.17369	T	0.5	.	12.6427	0.56718	1.0:0.0:0.0:0.0	.	559	Q96NW7	LRRC7_HUMAN	S	564;559;382	ENSP00000309245:R564S;ENSP00000035383:R559S	ENSP00000035383:R559S	R	+	3	2	LRRC7	70261642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.214000	0.58527	2.239000	0.73571	0.477000	0.44152	AGA		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
NEGR1	257194	broad.mit.edu	37	1	72400892	72400892	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:72400892A>C	ENST00000357731.5	-	2	518	c.279T>G	c.(277-279)atT>atG	p.I93M	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_De_novo_Start_InFrame|NEGR1_ENST00000434200.1_Missense_Mutation_p.I91M	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	93	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAATGTTGAAATTGAAACTC	0.443																																						uc001dfw.3																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(277-279)atT>atG		Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.							113.0	109.0	110.0					1																	72400892		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400892A>C	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.279T>G	1.37:g.72400892A>C	ENSP00000350364:p.Ile93Met					NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.I93M	p.I93M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	507	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	93			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.279T>G	CCDS661.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316629	0.60524	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.68624	-0.34;-0.34	5.71	3.29	0.37713	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.67625	2.065	0.40003	D	0.975189	D;P	0.63046	0.992;0.938	D;P	0.71184	0.972;0.81	T	0.72513	-0.4270	10	0.62326	D	0.03	-10.5825	9.063	0.36447	0.7731:0.0:0.2269:0.0	.	91;93	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	M	93;91	ENSP00000350364:I93M;ENSP00000413294:I91M	ENSP00000350364:I93M	I	-	3	3	NEGR1	72173480	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.449000	0.52950	1.023000	0.39654	0.533000	0.62120	ATT		0.443	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	
MOV10	4343	broad.mit.edu	37	1	113232671	113232671	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:113232671G>A	ENST00000413052.2	+	5	1177	c.787G>A	c.(787-789)Gga>Aga	p.G263R	MOV10_ENST00000369644.1_Missense_Mutation_p.G207R|MOV10_ENST00000369645.1_Missense_Mutation_p.G263R|MOV10_ENST00000357443.2_Missense_Mutation_p.G263R|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	263					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGGATCACCGGAAACCCTGT	0.602																																						uc001eck.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(787-789)Gga>Aga		Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.							62.0	65.0	64.0					1																	113232671		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113232671G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.787G>A	1.37:g.113232671G>A	ENSP00000399797:p.Gly263Arg					MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.3_Missense_Mutation_p.G263R|MOV10_uc001ecm.3_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	p.G263R	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	4	1057	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	263					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.787G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261354	0.23051	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.77	-2.12	0.07165	.	0.991514	0.08222	N	0.978943	T	0.45856	0.1363	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49062	-0.8978	10	0.12430	T	0.62	0.5796	5.7511	0.18148	0.4505:0.3292:0.2203:0.0	.	207;263;263	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	R	263;263;263;207;263;201	ENSP00000399797:G263R;ENSP00000358659:G263R;ENSP00000358658:G207R;ENSP00000350028:G263R	ENSP00000285733:G263R	G	+	1	0	MOV10	113034194	0.000000	0.05858	0.038000	0.18304	0.610000	0.37248	-0.199000	0.09491	-0.282000	0.09128	0.561000	0.74099	GGA		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
INSRR	3645	broad.mit.edu	37	1	156816384	156816384	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:156816384C>T	ENST00000368195.3	-	8	2133	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	579	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGTGGTTAGCGTGATGGCCC	0.607																																						uc010pht.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1735-1737)acG>acA		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.							133.0	97.0	109.0					1																	156816384		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156816384C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1737G>A	1.37:g.156816384C>T						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.T579T	NM_014215	NP_055030	P14616	INSRR_HUMAN			7	2036	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		579			Fibronectin type-III 1.		O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1737G>A	CCDS1160.1																																																																																				0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
OR10Z1	128368	broad.mit.edu	37	1	158576316	158576316	+	Silent	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:158576316T>C	ENST00000361284.1	+	1	88	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTTTGCCTTGTTCCTCTC	0.502																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(88-90)Ttg>Ctg		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.							189.0	182.0	185.0					1																	158576316		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576316T>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.88T>C	1.37:g.158576316T>C							p.L30L	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			0	88	+	all_hematologic(112;0.0378)		30					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.88T>C	CCDS30901.1																																																																																				0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
ATF6	22926	broad.mit.edu	37	1	161816315	161816315	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:161816315T>C	ENST00000367942.3	+	10	1331	c.1264T>C	c.(1264-1266)Tct>Cct	p.S422P	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	422					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TCTAGGATTTTCTGCTAAAGA	0.403																																						uc001gbs.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1264-1266)Tct>Cct		Homo sapiens activating transcription factor 6 (ATF6), mRNA.							114.0	109.0	110.0					1																	161816315		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161816315T>C	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1264T>C	1.37:g.161816315T>C	ENSP00000356919:p.Ser422Pro					ATF6_uc001gbq.2_Missense_Mutation_p.S422P	p.S422P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		9	1381	+	all_hematologic(112;0.156)		422					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1264T>C	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014593	0.75161	.	.	ENSG00000118217	ENST00000367942	T	0.18810	2.19	5.1	5.1	0.69264	.	0.055853	0.85682	D	0.000000	T	0.28896	0.0717	M	0.66939	2.045	0.46798	D	0.999208	D;D	0.76494	0.999;0.981	D;P	0.64042	0.921;0.767	T	0.11470	-1.0586	9	0.45353	T	0.12	-14.3113	11.5645	0.50796	0.0:0.0:0.0:1.0	.	422;423	P18850;Q59H30	ATF6A_HUMAN;.	P	422	ENSP00000356919:S422P	ENSP00000356919:S422P	S	+	1	0	ATF6	160082939	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.000000	0.57039	2.042000	0.60477	0.443000	0.29094	TCT		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
GORAB	92344	broad.mit.edu	37	1	170511696	170511696	+	Missense_Mutation	SNP	C	C	T	rs368371528		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:170511696C>T	ENST00000367763.3	+	3	579	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	GORAB_ENST00000367762.1_Missense_Mutation_p.R187C	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	187						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAAATAAACGTAAAAAAGC	0.398																																						uc001gha.2																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(559-561)Cgt>Tgt		Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	132.0	139.0	137.0		559,559	5.0	1.0	1		137	0,8600		0,0,4300	no	missense,missense	GORAB	NM_001146039.1,NM_152281.2	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	187/247,187/395	170511696	2,13004	2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170511696C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.559C>T	1.37:g.170511696C>T	ENSP00000356737:p.Arg187Cys					GORAB_uc001ggz.4_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	p.R187C	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			2	586	+			187					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.559C>T	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025972	0.75390	4.54E-4	0.0	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.65732	-0.17;-0.17	5.88	4.97	0.65823	.	0.170051	0.53938	D	0.000060	T	0.70902	0.3277	M	0.76574	2.34	0.53688	D	0.999973	D	0.89917	1.0	D	0.63597	0.916	T	0.76870	-0.2799	10	0.87932	D	0	-13.7561	14.6504	0.68792	0.0:0.9298:0.0:0.0702	.	187	Q5T7V8	GORAB_HUMAN	C	187	ENSP00000356737:R187C;ENSP00000356736:R187C	ENSP00000356736:R187C	R	+	1	0	GORAB	168778320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.453000	0.66645	1.496000	0.48567	-0.136000	0.14681	CGT		0.398	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281	
PAPPA2	60676	broad.mit.edu	37	1	176526282	176526282	+	Missense_Mutation	SNP	G	G	A	rs548559188		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:176526282G>A	ENST00000367662.3	+	2	1988	c.824G>A	c.(823-825)cGt>cAt	p.R275H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R275H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	275					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCTGCTGCGTCCAGAAGTG	0.577																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(823-825)cGt>cAt		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							31.0	31.0	31.0					1																	176526282		1925	4139	6064	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526282G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.824G>A	1.37:g.176526282G>A	ENSP00000356634:p.Arg275His					PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.3_Non-coding_Transcript	p.R275H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			1	1988	+			275					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.824G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916414	0.73098	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73469	-0.75;-0.75	4.58	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.326765	0.29028	N	0.013379	T	0.81307	0.4795	L	0.59436	1.845	0.33883	D	0.636403	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.973	D	0.85126	0.0972	10	0.56958	D	0.05	-6.6048	9.7459	0.40446	0.0999:0.0:0.9001:0.0	.	275;275	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	275	ENSP00000356634:R275H;ENSP00000356633:R275H	ENSP00000356633:R275H	R	+	2	0	PAPPA2	174792905	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.540000	0.53611	0.923000	0.37045	0.313000	0.20887	CGT		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
HMCN1	83872	broad.mit.edu	37	1	186062774	186062774	+	Missense_Mutation	SNP	G	G	A	rs369620574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:186062774G>A	ENST00000271588.4	+	66	10398	c.10169G>A	c.(10168-10170)cGg>cAg	p.R3390Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3390Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3390	Ig-like C2-type 32.				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						TCCCATATCCGGTTACTGGCA	0.428																																						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.(10168-10170)cGg>cAg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							80.0	85.0	83.0					1																	186062774		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062774G>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.10169G>A	1.37:g.186062774G>A	ENSP00000271588:p.Arg3390Gln					MIR548F1_uc021pgf.1_Intron	p.R3390Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			65	10398	+			3390			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10169G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516366	0.85495	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.39514	1.22	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	T	0.68484	-0.5396	10	0.23891	T	0.37	.	13.6338	0.62210	0.0769:0.0:0.9231:0.0	.	3390	Q96RW7	HMCN1_HUMAN	Q	3390	ENSP00000271588:R3390Q;ENSP00000356462:R3390Q	ENSP00000271588:R3390Q	R	+	2	0	HMCN1	184329397	1.000000	0.71417	0.879000	0.34478	0.949000	0.60115	7.315000	0.78998	2.324000	0.78689	0.585000	0.79938	CGG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
AVPR1B	553	broad.mit.edu	37	1	206224826	206224826	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:206224826C>T	ENST00000367126.4	+	1	851	c.386C>T	c.(385-387)aCg>aTg	p.T129M	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	129					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.T129M(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGCCATGACGCTGGACCGC	0.657																																						uc001hds.2																			2	Substitution - Missense(2)	p.T129M(4)	large_intestine(2)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(385-387)aCg>aTg		Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						61.0	57.0	58.0					1																	206224826		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224826C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.386C>T	1.37:g.206224826C>T	ENSP00000356094:p.Thr129Met						p.T129M	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		0	544	+			129					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.386C>T	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970759	0.74246	.	.	ENSG00000198049	ENST00000367126	T	0.73152	-0.72	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.87849	0.6281	M	0.91038	3.17	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	D	0.90204	0.4259	10	0.87932	D	0	-16.4432	18.5451	0.91043	0.0:1.0:0.0:0.0	.	129	P47901	V1BR_HUMAN	M	129	ENSP00000356094:T129M	ENSP00000356094:T129M	T	+	2	0	AVPR1B	204391449	1.000000	0.71417	0.962000	0.40283	0.998000	0.95712	5.885000	0.69736	2.704000	0.92352	0.514000	0.50259	ACG		0.657	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707	
CD55	1604	broad.mit.edu	37	1	207500170	207500170	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:207500170C>T	ENST00000367064.3	+	5	910	c.652C>T	c.(652-654)Cca>Tca	p.P218S	CD55_ENST00000391921.4_Missense_Mutation_p.P154S|CD55_ENST00000367065.5_Missense_Mutation_p.P218S|CD55_ENST00000367062.4_Missense_Mutation_p.P218S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.P218S|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000391920.4_Missense_Mutation_p.P218S|CD55_ENST00000367063.2_Missense_Mutation_p.P218S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	218	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGACCCGTTGCCAGAGTGCAG	0.403																																						uc001hfq.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(652-654)Cca>Tca		Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	Chloramphenicol(DB00446)						143.0	140.0	141.0					1																	207500170		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207500170C>T	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.652C>T	1.37:g.207500170C>T	ENSP00000356031:p.Pro218Ser					CD55_uc001hfr.4_Missense_Mutation_p.P218S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P154S|CD55_uc009xce.3_Missense_Mutation_p.P218S	p.P218S	NM_000574	NP_000565	P08174	DAF_HUMAN			4	946	+			218			Sushi 3.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.652C>T	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254953	0.59321	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.080199	0.51477	D	0.000090	D	0.92485	0.7614	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;1.0	D	0.94638	0.7828	10	0.87932	D	0	.	14.0403	0.64672	0.0:1.0:0.0:0.0	.	154;218;218;218;218	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	S	218;218;154;154;218;218;218;218	ENSP00000356031:P218S;ENSP00000356030:P218S;ENSP00000375788:P154S;ENSP00000316333:P218S;ENSP00000356032:P218S;ENSP00000375787:P218S;ENSP00000356029:P218S	ENSP00000316333:P218S	P	+	1	0	CD55	205566793	0.318000	0.24598	0.063000	0.19743	0.018000	0.09664	3.182000	0.50910	2.683000	0.91414	0.650000	0.86243	CCA		0.403	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574	
SIPA1L2	57568	broad.mit.edu	37	1	232581433	232581433	+	Silent	SNP	C	C	T	rs372853782		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:232581433C>T	ENST00000366630.1	-	10	3553	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	SIPA1L2_ENST00000262861.4_Silent_p.T1065T|SIPA1L2_ENST00000308942.4_Silent_p.T139T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1065					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGGTGCCACGTGGTGTTCC	0.642																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3193-3195)acG>acA		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.		C		1,3819		0,1,1909	55.0	62.0	60.0		3195	-8.4	0.6	1		60	0,8238		0,0,4119	no	coding-synonymous	SIPA1L2	NM_020808.3		0,1,6028	TT,TC,CC		0.0,0.0262,0.0083		1065/1723	232581433	1,12057	1910	4119	6029	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232581433C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3195G>A	1.37:g.232581433C>T						SIPA1L2_uc001hvf.3_Silent_p.T139T	p.T1065T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			8	3353	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1065					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.3195G>A	CCDS41474.1																																																																																				0.642	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
OR2L13	284521	broad.mit.edu	37	1	248262881	248262881	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248262881G>T	ENST00000358120.2	+	2	349	c.204G>T	c.(202-204)atG>atT	p.M68I	OR2L13_ENST00000366478.2_Missense_Mutation_p.M68I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTCCCTTATGGACCTGATGT	0.547																																						uc001ids.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(202-204)atG>atT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							231.0	210.0	217.0					1																	248262881		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262881G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.204G>T	1.37:g.248262881G>T	ENSP00000350836:p.Met68Ile					OR2L13_uc021pmc.1_Missense_Mutation_p.M68I	p.M68I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	541	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		68					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.204G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	7.431	0.638761	0.14386	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.02837	4.14;4.14	4.07	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00998	0.0033	N	0.01640	-0.785	0.23988	N	0.996254	P	0.36616	0.561	B	0.27380	0.079	T	0.53718	-0.8399	10	0.25106	T	0.35	.	9.0049	0.36106	0.0:0.2581:0.5985:0.1434	.	68	Q8N349	OR2LD_HUMAN	I	68	ENSP00000355434:M68I;ENSP00000350836:M68I	ENSP00000350836:M68I	M	+	3	0	OR2L13	246329504	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.713000	0.01883	2.077000	0.62373	0.650000	0.86243	ATG		0.547	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2T4	127074	broad.mit.edu	37	1	248525679	248525679	+	Missense_Mutation	SNP	G	G	A	rs370187385		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248525679G>A	ENST00000366475.1	+	1	797	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGAGGGCCGGAAAAAGGCC	0.547																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(796-798)cGg>cAg		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.		G	GLN/ARG	0,4406		0,0,2203	124.0	122.0	122.0		797	-4.6	0.2	1		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T4	NM_001004696.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/349	248525679	1,13005	2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525679G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.797G>A	1.37:g.248525679G>A	ENSP00000355431:p.Arg266Gln						p.R266Q	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	797	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		266					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.797G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	7.228	0.598748	0.13939	0.0	1.16E-4	ENSG00000196944	ENST00000366475	T	0.00311	8.15	3.0	-4.61	0.03380	GPCR, rhodopsin-like superfamily (1);	0.310059	0.22819	N	0.055251	T	0.00210	0.0006	M	0.70787	2.145	0.09310	N	1	B	0.32507	0.373	B	0.28385	0.089	T	0.42207	-0.9465	10	0.56958	D	0.05	.	7.686	0.28540	0.5395:0.1134:0.3472:0.0	.	266	Q8NH00	OR2T4_HUMAN	Q	266	ENSP00000355431:R266Q	ENSP00000355431:R266Q	R	+	2	0	OR2T4	246592302	0.000000	0.05858	0.170000	0.22879	0.315000	0.28087	0.161000	0.16481	-1.049000	0.03234	-0.482000	0.04802	CGG		0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						uc001iek.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgctgcgtgfs		Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.C203fs	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	607_613	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136	
GDF2	2658	broad.mit.edu	37	10	48413956	48413956	+	Silent	SNP	C	C	T	rs201627211		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:48413956C>T	ENST00000249598.1	-	2	1071	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	304					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGTGGCCATCCGTGTCCTCCT	0.607																																						uc001jfa.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(910-912)acG>acA		Homo sapiens growth differentiation factor 2 (GDF2), mRNA.							78.0	66.0	70.0					10																	48413956		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413956C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.912G>A	10.37:g.48413956C>T							p.T304T	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			1	1072	-			304					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.912G>A	CCDS7219.1																																																																																				0.607	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204	
A1CF	29974	broad.mit.edu	37	10	52566580	52566580	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:52566580G>T	ENST00000373993.1	-	11	1738	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	A1CF_ENST00000282641.2_Missense_Mutation_p.T565N|A1CF_ENST00000373997.3_Missense_Mutation_p.T557N|A1CF_ENST00000374001.2_Missense_Mutation_p.T557N|A1CF_ENST00000373995.3_Missense_Mutation_p.T565N|A1CF_ENST00000395489.2_Missense_Mutation_p.T558N|A1CF_ENST00000395495.1_Missense_Mutation_p.T510N|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	565					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGTCCAAGGGTTACCGCTTG	0.493																																						uc001jjj.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1693-1695)aCc>aAc		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.							135.0	120.0	125.0					10																	52566580		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52566580G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1694C>A	10.37:g.52566580G>T	ENSP00000363105:p.Thr565Asn					A1CF_uc010qho.2_Missense_Mutation_p.T573N|A1CF_uc010qhn.2_Missense_Mutation_p.T565N|A1CF_uc009xov.3_Missense_Mutation_p.T557N|A1CF_uc001jji.3_Missense_Mutation_p.T557N|A1CF_uc001jjh.3_Missense_Mutation_p.T565N	p.T565N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			12	1882	-			565					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1694C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220180	0.58560	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.13307	2.72;2.73;2.72;2.71;2.73;2.6;2.73	5.74	4.81	0.61882	.	0.748846	0.13602	N	0.375743	T	0.12603	0.0306	N	0.24115	0.695	0.36598	D	0.874494	P;B;B;P	0.46142	0.873;0.281;0.403;0.873	B;B;B;B	0.42282	0.295;0.04;0.087;0.382	T	0.15178	-1.0446	10	0.72032	D	0.01	-4.3967	13.5326	0.61631	0.0:0.0:0.8429:0.1571	.	558;565;557;565	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	N	557;565;557;565;565;510;540;558	ENSP00000363113:T557N;ENSP00000363105:T565N;ENSP00000363109:T557N;ENSP00000363107:T565N;ENSP00000282641:T565N;ENSP00000378873:T510N;ENSP00000378868:T558N	ENSP00000282641:T565N	T	-	2	0	A1CF	52236586	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.327000	0.79147	1.360000	0.45960	0.650000	0.86243	ACC		0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PTEN	5728	broad.mit.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:89692883C>T	ENST00000371953.3	+	5	1724	c.367C>T	c.(367-369)Cac>Tac	p.H123Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.H123D(1)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		60	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.H123Y(10)|p.I122fs*2(6)|p.?(5)|p.R55fs*1(5)|p.H123D(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|endometrium(6)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM020755	PTEN	M		c.(367-369)Cac>Tac		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							140.0	129.0	132.0					10																	89692883		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692883C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.367C>T	10.37:g.89692883C>T	ENSP00000361021:p.His123Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.H123Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1399	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	123		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.367C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903384	0.92035	.	.	ENSG00000171862	ENST00000371953	D	0.99903	-7.67	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95932	0.8939	9	.	.	.	-8.7537	18.7776	0.91918	0.0:1.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	Y	123	ENSP00000361021:H123Y	.	H	+	1	0	PTEN	89682863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	CAC		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
FAM178A	55719	broad.mit.edu	37	10	102676871	102676871	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:102676871C>T	ENST00000238961.4	+	3	1271	c.729C>T	c.(727-729)taC>taT	p.Y243Y	FAM178A_ENST00000370269.3_Silent_p.Y243Y|FAM178A_ENST00000370271.3_Silent_p.Y243Y	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	243						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TAGCTTCTTACTGCAGAGAAC	0.473																																						uc001krs.3																			0											c.(727-729)taC>taT		Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.							61.0	63.0	63.0					10																	102676871		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102676871C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.729C>T	10.37:g.102676871C>T						FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.4_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	p.Y243Y	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN			2	1271	+			243					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.729C>T	CCDS7500.1																																																																																				0.473	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
PCGF6	84108	broad.mit.edu	37	10	105108477	105108477	+	Missense_Mutation	SNP	T	T	C	rs200230704		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:105108477T>C	ENST00000369847.3	-	3	620	c.553A>G	c.(553-555)Ata>Gta	p.I185V	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.I185V	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	185					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTTACCTTATGTTATAAAGA	0.284													T|||	1	0.000199681	0.0	0.0	5008	,	,		18877	0.0		0.001	False		,,,				2504	0.0					uc001kwt.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(553-555)Ata>Gta		Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.							63.0	65.0	64.0					10																	105108477		2203	4300	6503	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105108477T>C	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.553A>G	10.37:g.105108477T>C	ENSP00000358862:p.Ile185Val					PCGF6_uc001kwu.3_Missense_Mutation_p.I185V|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	p.I185V	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	2	621	-		Colorectal(252;0.0747)|Breast(234;0.128)	185					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.553A>G	CCDS31275.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	17.98	3.519798	0.64634	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.34275	1.37;1.42	4.92	4.92	0.64577	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.75615	2.305	0.80722	D	1	D;D	0.57899	0.981;0.963	D;D	0.64877	0.91;0.93	T	0.62656	-0.6808	10	0.59425	D	0.04	.	14.5268	0.67894	0.0:0.0:0.0:1.0	.	185;185	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	V	185	ENSP00000358862:I185V;ENSP00000338845:I185V	ENSP00000338845:I185V	I	-	1	0	PCGF6	105098467	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.478000	0.81082	1.967000	0.57214	0.402000	0.26972	ATA		0.284	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154	
OR56B4	196335	broad.mit.edu	37	11	6129052	6129052	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:6129052T>A	ENST00000316529.3	+	1	139	c.44T>A	c.(43-45)aTt>aAt	p.I15N	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCAGATTTCCCAGTTC	0.493																																						uc010qzx.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(43-45)aTt>aAt		Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.							71.0	64.0	66.0					11																	6129052		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129052T>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.44T>A	11.37:g.6129052T>A	ENSP00000321196:p.Ile15Asn						p.I15N	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	44	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	15					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.44T>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863317	0.51482	.	.	ENSG00000180919	ENST00000316529	T	0.00561	6.59	4.14	2.97	0.34412	.	0.799989	0.10012	N	0.727124	T	0.00845	0.0028	L	0.41573	1.285	0.09310	N	1	D	0.59357	0.985	P	0.52710	0.707	T	0.57590	-0.7785	10	0.87932	D	0	.	5.9335	0.19152	0.156:0.0875:0.0:0.7565	.	15	Q8NH76	O56B4_HUMAN	N	15	ENSP00000321196:I15N	ENSP00000321196:I15N	I	+	2	0	OR56B4	6085628	0.014000	0.17966	0.000000	0.03702	0.100000	0.18952	2.083000	0.41615	0.692000	0.31613	0.524000	0.50904	ATT		0.493	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181	
QSER1	79832	broad.mit.edu	37	11	32954286	32954286	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:32954286G>A	ENST00000399302.2	+	4	1430	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	365	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTCCAGCAAGGTTGAGAAAT	0.383																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(1093-1095)aaG>aaA		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							134.0	125.0	128.0					11																	32954286		1860	4089	5949	SO:0001819	synonymous_variant	79832							g.chr11:32954286G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1095G>A	11.37:g.32954286G>A						QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank	p.K365K	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			3	1362	+	Breast(20;0.158)		365			Ser-rich.		Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.1095G>A	CCDS41631.1																																																																																				0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
OR5AR1	219493	broad.mit.edu	37	11	56431526	56431526	+	Missense_Mutation	SNP	G	G	A	rs143043362		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:56431526G>A	ENST00000302969.2	+	1	389	c.365G>A	c.(364-366)cGt>cAt	p.R122H		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCCTATGGTCGTTTTGTGGCC	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20028	0.0		0.0	False		,,,				2504	0.0					uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(364-366)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	181.0	169.0	173.0		365	3.0	1.0	11	dbSNP_134	173	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5AR1	NM_001004730.1	29	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	122/311	56431526	2,12992	2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431526G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.365G>A	11.37:g.56431526G>A	ENSP00000302639:p.Arg122His					OR8U8_uc001nit.2_Intron	p.R122H	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	365	+			122					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.365G>A	CCDS31535.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.19	3.568113	0.65651	2.27E-4	1.16E-4	ENSG00000172459	ENST00000302969	T	0.77489	-1.1	4.94	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000365	T	0.75561	0.3866	M	0.84948	2.725	0.32544	N	0.53322	B	0.31519	0.327	B	0.23419	0.046	T	0.81163	-0.1058	10	0.72032	D	0.01	.	9.0392	0.36307	0.0782:0.0:0.7761:0.1457	.	122	Q8NGP9	O5AR1_HUMAN	H	122	ENSP00000302639:R122H	ENSP00000302639:R122H	R	+	2	0	OR5AR1	56188102	0.997000	0.39634	0.984000	0.44739	0.722000	0.41435	5.070000	0.64376	1.321000	0.45227	0.573000	0.79308	CGT		0.512	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
OOSP2	219990	broad.mit.edu	37	11	59807826	59807826	+	5'UTR	SNP	C	C	T	rs527826743	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:59807826C>T	ENST00000278855.2	+	0	79				PLAC1L_ENST00000532905.1_5'Flank	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN								extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAGGAAAACGAACGCAGCT	0.463													C|||	3	0.000599042	0.0	0.0	5008	,	,		19916	0.001		0.0	False		,,,				2504	0.002					uc001nol.3																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15								Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.																																				SO:0001623	5_prime_UTR_variant	219990					extracellular region		g.chr11:59807826C>T																												ENST00000278855.2:c.-107C>T	11.37:g.59807826C>T								NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			0		+								E9PJA4|Q8N9U6	Translation_Start_Site	SNP	ENST00000278855.2	37		CCDS7979.1																																																																																				0.463	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		
MS4A14	84689	broad.mit.edu	37	11	60183888	60183888	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:60183888T>A	ENST00000300187.6	+	5	1724	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	MS4A14_ENST00000531783.1_Missense_Mutation_p.S516T|MS4A14_ENST00000531787.1_Missense_Mutation_p.S371T|MS4A14_ENST00000395005.2_Missense_Mutation_p.S466T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	483	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAAAATCCTCAAGACGGCA	0.398																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1447-1449)Tca>Aca		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							78.0	81.0	80.0					11																	60183888		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183888T>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1447T>A	11.37:g.60183888T>A	ENSP00000300187:p.Ser483Thr					MS4A14_uc001npi.3_Missense_Mutation_p.S371T|MS4A14_uc001npn.3_Missense_Mutation_p.S221T|MS4A14_uc001npk.3_Missense_Mutation_p.S466T|MS4A14_uc001npl.3_Missense_Mutation_p.S221T|MS4A14_uc001npm.3_Missense_Mutation_p.S221T	p.S483T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	2012	+			483			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1447T>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411544	0.42817	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.8;1.57;3.14	4.13	-8.27	0.01017	.	4.314310	0.00855	N	0.001874	T	0.18882	0.0453	L	0.27053	0.805	0.09310	N	1	B;B	0.24576	0.106;0.064	B;B	0.25140	0.058;0.026	T	0.09618	-1.0666	10	0.33940	T	0.23	-0.1373	6.5781	0.22577	0.3455:0.4884:0.0:0.166	.	466;483	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	371;483;466;516	ENSP00000437222:S371T;ENSP00000300187:S483T;ENSP00000378453:S466T;ENSP00000433761:S516T	ENSP00000300187:S483T	S	+	1	0	MS4A14	59940464	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.184000	0.03076	-2.198000	0.00749	0.528000	0.53228	TCA		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
AHNAK	79026	broad.mit.edu	37	11	62285625	62285625	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:62285625C>T	ENST00000378024.4	-	5	16538	c.16264G>A	c.(16264-16266)Gtc>Atc	p.V5422I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5422					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGCATTGACGTGCAAGTCG	0.532																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16264-16266)Gtc>Atc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							69.0	70.0	70.0					11																	62285625		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285625C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16264G>A	11.37:g.62285625C>T	ENSP00000367263:p.Val5422Ile					AHNAK_uc001ntk.1_Intron	p.V5422I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	16564	-		Melanoma(852;0.155)	5422					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16264G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	0.552	-0.848962	0.02651	.	.	ENSG00000124942	ENST00000378024	T	0.01197	5.19	4.69	-2.36	0.06663	.	0.682915	0.11989	N	0.509971	T	0.01029	0.0034	N	0.25332	0.735	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.43507	-0.9387	10	0.23302	T	0.38	.	11.9333	0.52860	0.0:0.6823:0.0:0.3177	.	5422	Q09666	AHNK_HUMAN	I	5422	ENSP00000367263:V5422I	ENSP00000367263:V5422I	V	-	1	0	AHNAK	62042201	0.000000	0.05858	0.018000	0.16275	0.006000	0.05464	-3.540000	0.00437	-0.446000	0.07149	-0.397000	0.06425	GTC		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						uc009yrj.3																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(856-876)gctgctgctgcagcagcagccdel		Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	5936				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del					RBM14_uc009yrk.3_In_Frame_Del_p.AAAAAAA261del|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_In_Frame_Del_p.AAAAAAA286del|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA286del	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN			2	1344_1364	+			480			Ala-rich.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.856_876delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896	
DHH	50846	broad.mit.edu	37	12	49483743	49483743	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:49483743G>A	ENST00000266991.2	-	3	1396	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	364					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CCTAGCGCGTGCAGCAGTCTC	0.667																																						uc001rtf.3																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(1090-1092)Cac>Tac		Homo sapiens desert hedgehog (DHH), mRNA.							9.0	11.0	10.0					12																	49483743		2196	4283	6479	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49483743G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1090C>T	12.37:g.49483743G>A	ENSP00000266991:p.His364Tyr						p.H364Y	NM_021044	NP_066382	O43323	DHH_HUMAN			2	1397	-			364					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.1090C>T	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	g	5.408	0.260404	0.10239	.	.	ENSG00000139549	ENST00000266991	D	0.99277	-5.67	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.459027	0.25400	N	0.030954	D	0.96793	0.8953	L	0.31120	0.905	0.30292	N	0.790325	B	0.13145	0.007	B	0.08055	0.003	D	0.92603	0.6093	10	0.15499	T	0.54	-12.0006	12.2154	0.54404	0.0:0.0:0.8294:0.1706	.	364	O43323	DHH_HUMAN	Y	364	ENSP00000266991:H364Y	ENSP00000266991:H364Y	H	-	1	0	DHH	47770010	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	4.185000	0.58330	2.654000	0.90174	0.556000	0.70494	CAC		0.667	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044	
ACVRL1	94	broad.mit.edu	37	12	52312886	52312887	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:52312886_52312887TG>GT	ENST00000388922.4	+	9	1647_1648	c.1364_1365TG>GT	c.(1363-1365)cTG>cGT	p.L455R	ACVRL1_ENST00000550683.1_Missense_Mutation_p.L469R|ACVRL1_ENST00000419526.2_Missense_Mutation_p.L281R	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTAACCGGCTGGCTGCAGACC	0.599																																						uc001rzj.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1363-1365)ctg>cGT		Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)																																			SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312886_52312887TG>GT	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	Exception_encountered	12.37:g.52312886_52312887delinsGT	ENSP00000373574:p.Leu455Arg					ACVRL1_uc001rzk.3_Missense_Mutation_p.L455R|ACVRL1_uc010snm.2_Missense_Mutation_p.L281R	p.L455R	NM_000020	NP_001070869	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1647_1648	+			455			Protein kinase.		A6NGA8	Missense_Mutation	DNP	ENST00000388922.4	37	c.1364_1365TG>GT	CCDS31804.1																																																																																				0.599	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		
TPCN1	53373	broad.mit.edu	37	12	113730818	113730818	+	Silent	SNP	G	G	C	rs367617972		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:113730818G>C	ENST00000335509.6	+	26	2507	c.2193G>C	c.(2191-2193)cgG>cgC	p.R731R	TPCN1_ENST00000550785.1_Silent_p.R803R|TPCN1_ENST00000541517.1_Silent_p.R803R|TPCN1_ENST00000392569.4_Silent_p.R663R	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	731					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGGAGGCACGGGGGGCCTCCT	0.617																																						uc001tux.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2407-2409)cgG>cgC		Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.							41.0	42.0	42.0					12																	113730818		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113730818G>C	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2193G>C	12.37:g.113730818G>C						TPCN1_uc001tuw.3_Silent_p.R731R|TPCN1_uc010syu.2_5'Flank	p.R803R	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN			26	2583	+			731					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.2409G>C	CCDS31908.1																																																																																				0.617	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	
ORAI1	84876	broad.mit.edu	37	12	122079191	122079191	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:122079191G>A	ENST00000330079.7	+	2	747	c.554G>A	c.(553-555)gGc>gAc	p.G185D		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	183					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ACCGTCATCGGCACGCTGCTC	0.637																																						uc021rff.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(553-555)gGc>gAc		Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.							67.0	70.0	69.0					12																	122079191		2203	4300	6503	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079191G>A	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.554G>A	12.37:g.122079191G>A	ENSP00000328216:p.Gly185Asp						p.G185D	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	1	747	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		183					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.554G>A	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838602	0.91117	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.75154	-0.91;-0.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.89118	0.3501	10	0.87932	D	0	-36.7201	19.8013	0.96509	0.0:0.0:1.0:0.0	.	183	Q96D31	CRCM1_HUMAN	D	185;80	ENSP00000328216:G185D;ENSP00000441198:G80D	ENSP00000328216:G185D	G	+	2	0	ORAI1	120563574	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	9.813000	0.99286	2.761000	0.94854	0.591000	0.81541	GGC		0.637	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
ENOX1	55068	broad.mit.edu	37	13	43935415	43935415	+	Splice_Site	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr13:43935415T>C	ENST00000261488.6	-	6	959	c.382A>G	c.(382-384)Aat>Gat	p.N128D	ENOX1_ENST00000412891.1_Splice_Site_p.N128D|ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	128	Pro-rich.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTTACTTACTTGGATTTTGA	0.378																																						uc001uza.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.e6+1		Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.							77.0	81.0	80.0					13																	43935415		2203	4300	6503	SO:0001630	splice_region_variant	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935415T>C	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.382+1A>G	13.37:g.43935415T>C						ENOX1_uc001uzc.4_Splice_Site_p.N128_splice|ENOX1_uc001uzb.4_Splice_Site_p.N128_splice|ENOX1_uc010tfm.1_5'Flank	p.N128_splice	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	682	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	128			Pro-rich.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.382_splice	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681698	0.47991	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.74315	-0.83;-0.83	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.84192	0.5418	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.84305	0.0507	9	.	.	.	-4.4463	15.6384	0.76973	0.0:0.0:0.0:1.0	.	128	Q8TC92	ENOX1_HUMAN	D	128	ENSP00000261488:N128D;ENSP00000415054:N128D	.	N	-	1	0	ENOX1	42833415	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.678000	0.84035	2.105000	0.64084	0.533000	0.62120	AAT		0.378	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	Missense_Mutation
PRKD1	5587	broad.mit.edu	37	14	30068325	30068325	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr14:30068325C>T	ENST00000331968.5	-	15	2303	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	PRKD1_ENST00000415220.2_Missense_Mutation_p.V700M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCAAAGCCACGAGTATCTGT	0.368																																						uc001wqh.3																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2074-2076)Gtg>Atg		Homo sapiens protein kinase D1 (PRKD1), mRNA.							85.0	84.0	85.0					14																	30068325		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068325C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2074G>A	14.37:g.30068325C>T	ENSP00000333568:p.Val692Met					MIR548AI_uc021rrv.1_Intron	p.V692M	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2255	-	Hepatocellular(127;0.0604)		692			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2074G>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134400	0.77662	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65364	-0.15;-0.15	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.57636	0.2067	L	0.31420	0.93	0.58432	D	0.999999	D	0.58268	0.982	P	0.44921	0.464	T	0.61466	-0.7057	10	0.54805	T	0.06	-18.0123	19.9348	0.97133	0.0:1.0:0.0:0.0	.	692	Q15139	KPCD1_HUMAN	M	692;700	ENSP00000333568:V692M;ENSP00000390535:V700M	ENSP00000333568:V692M	V	-	1	0	PRKD1	29138076	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.876000	0.63079	2.789000	0.95967	0.591000	0.81541	GTG		0.368	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
MKRN3	7681	broad.mit.edu	37	15	23811197	23811197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:23811197C>T	ENST00000314520.3	+	1	744	c.268C>T	c.(268-270)Cga>Tga	p.R90*	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Nonsense_Mutation_p.R90*|MKRN3_ENST00000568252.1_Nonsense_Mutation_p.R90*	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	90					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTTGCCAAGCCGAAGCAGCGG	0.607																																						uc001ywh.4																			0		p.R90L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(268-270)Cga>Tga		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							43.0	42.0	43.0					15																	23811197		2203	4300	6503	SO:0001587	stop_gained	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811197C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.268C>T	15.37:g.23811197C>T	ENSP00000313881:p.Arg90*					MKRN3_uc001ywi.3_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	p.R90*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	744	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	90						Nonsense_Mutation	SNP	ENST00000314520.3	37	c.268C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.186684	0.57909	.	.	ENSG00000179455	ENST00000314520	.	.	.	3.83	0.916	0.19373	.	0.301034	0.18297	N	0.145559	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3804	0.04353	0.197:0.5034:0.191:0.1086	.	.	.	.	X	90	.	ENSP00000313881:R90X	R	+	1	2	MKRN3	21362290	0.004000	0.15560	0.001000	0.08648	0.016000	0.09150	0.575000	0.23729	0.215000	0.20761	0.563000	0.77884	CGA		0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
FBN1	2200	broad.mit.edu	37	15	48744871	48744871	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:48744871C>A	ENST00000316623.5	-	45	5888	c.5433G>T	c.(5431-5433)gaG>gaT	p.E1811D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1811	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTTCTGACACTCGTCAATAT	0.488																																						uc001zwx.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(5431-5433)gaG>gaT		Homo sapiens fibrillin 1 (FBN1), mRNA.							92.0	73.0	80.0					15																	48744871		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48744871C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5433G>T	15.37:g.48744871C>A	ENSP00000325527:p.Glu1811Asp					FBN1_uc010beo.2_Non-coding_Transcript	p.E1811D	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	44	5828	-		all_lung(180;0.00279)	1811			EGF-like 30; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5433G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662697	0.67700	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.98807	-5.15	5.49	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	M	0.82193	2.58	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.98468	1.0599	10	0.72032	D	0.01	.	7.2104	0.25931	0.0:0.7585:0.0:0.2415	.	1811	P35555	FBN1_HUMAN	D	1811;379;701	ENSP00000325527:E1811D	ENSP00000325527:E1811D	E	-	3	2	FBN1	46532163	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	0.976000	0.29462	2.746000	0.94184	0.561000	0.74099	GAG		0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
VPS13C	54832	broad.mit.edu	37	15	62292774	62292774	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:62292774C>A	ENST00000261517.5	-	16	1415	c.1342G>T	c.(1342-1344)Gca>Tca	p.A448S	VPS13C_ENST00000249837.3_Missense_Mutation_p.A405S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A448S|VPS13C_ENST00000395898.3_Missense_Mutation_p.A405S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAACTTGTGCTTGTTGCCTT	0.308																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1342-1344)Gca>Tca		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.							70.0	72.0	71.0					15																	62292774		2202	4299	6501	SO:0001583	missense	54832				protein localization			g.chr15:62292774C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1342G>T	15.37:g.62292774C>A	ENSP00000261517:p.Ala448Ser					VPS13C_uc002aha.3_Missense_Mutation_p.A405S|VPS13C_uc002ahb.2_Missense_Mutation_p.A448S|VPS13C_uc002ahc.2_Missense_Mutation_p.A405S	p.A448S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			15	1433	-			448						Missense_Mutation	SNP	ENST00000261517.5	37	c.1342G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381710	0.82792	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.61274	0.19;0.12;0.31	5.47	4.55	0.56014	.	0.061192	0.64402	D	0.000004	T	0.77870	0.4195	M	0.86651	2.83	0.48395	D	0.999647	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.77557	0.983;0.99;0.976;0.977	T	0.81782	-0.0775	10	0.72032	D	0.01	.	13.0789	0.59102	0.0:0.9228:0.0:0.0772	.	405;448;405;448	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	405;448;448;448	ENSP00000249837:A405S;ENSP00000261517:A448S;ENSP00000379233:A448S	ENSP00000249837:A405S	A	-	1	0	VPS13C	60080066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	1.310000	0.45006	0.555000	0.69702	GCA		0.308	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
TLN2	83660	broad.mit.edu	37	15	63058560	63058560	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:63058560G>A	ENST00000561311.1	+	40	5365	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	TLN2_ENST00000472902.1_Missense_Mutation_p.G105E|TLN2_ENST00000306829.6_Missense_Mutation_p.G1712E			Q9Y4G6	TLN2_HUMAN	talin 2	1712					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGAAATCGGACACCTTATC	0.572																																						uc002alb.4																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5134-5136)gGa>gAa		Homo sapiens talin 2 (TLN2), mRNA.							68.0	54.0	59.0					15																	63058560		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63058560G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5135G>A	15.37:g.63058560G>A	ENSP00000453508:p.Gly1712Glu					TLN2_uc002alc.4_Missense_Mutation_p.G105E|TLN2_uc002ald.3_Missense_Mutation_p.G105E	p.G1712E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			37	5135	+			1712					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5135G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753798	0.49362	.	.	ENSG00000171914	ENST00000306829	T	0.13538	2.58	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	M	0.62723	1.935	0.80722	D	1	P;P	0.44521	0.837;0.615	P;B	0.47786	0.557;0.354	T	0.03695	-1.1012	10	0.02654	T	1	-21.9911	19.568	0.95403	0.0:0.0:1.0:0.0	.	756;1712	G1UI21;Q9Y4G6	.;TLN2_HUMAN	E	1712	ENSP00000303476:G1712E	ENSP00000303476:G1712E	G	+	2	0	TLN2	60845852	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.626000	0.88956	0.655000	0.94253	GGA		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
SH3GL3	6457	broad.mit.edu	37	15	84245409	84245409	+	Silent	SNP	C	C	T	rs138675150	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:84245409C>T	ENST00000427482.2	+	6	846	c.540C>T	c.(538-540)gaC>gaT	p.D180D	SH3GL3_ENST00000434347.1_Silent_p.D188D|SH3GL3_ENST00000324537.5_Silent_p.D188D|SH3GL3_ENST00000535412.1_Silent_p.D180D	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	180	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGATACCAGACGAAGAAGTCA	0.383													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15757	0.0		0.001	False		,,,				2504	0.0					uc002bjw.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(538-540)gaC>gaT		Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.		C		6,4400	11.4+/-27.6	0,6,2197	59.0	62.0	61.0		540	-8.7	0.7	15	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	SH3GL3	NM_003027.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		180/348	84245409	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84245409C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.540C>T	15.37:g.84245409C>T						SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.3_Silent_p.D111D|SH3GL3_uc002bju.3_Silent_p.D188D|SH3GL3_uc002bjv.3_Non-coding_Transcript	p.D180D	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			5	735	+			180			BAR.		O43553|O43554	Silent	SNP	ENST00000427482.2	37	c.540C>T	CCDS10325.2																																																																																				0.383	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
CHD2	1106	broad.mit.edu	37	15	93563361	93563361	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:93563361G>A	ENST00000394196.4	+	38	6094	c.5026G>A	c.(5026-5028)Ggg>Agg	p.G1676R	CHD2_ENST00000557381.1_Missense_Mutation_p.G1676R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1676					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCACCATTATGGGGACCGGCG	0.527																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5026-5028)Ggg>Agg		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.							140.0	106.0	118.0					15																	93563361		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93563361G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5026G>A	15.37:g.93563361G>A	ENSP00000377747:p.Gly1676Arg					CHD2_uc002bso.1_Missense_Mutation_p.G1676R	p.G1676R	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		37	5601	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1676					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5026G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474796	0.63737	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.89617	-2.54;-2.53	5.61	5.61	0.85477	.	0.000000	0.32015	U	0.006701	D	0.87763	0.6259	N	0.24115	0.695	0.80722	D	1	D;D	0.57257	0.964;0.979	P;P	0.59487	0.726;0.858	D	0.84126	0.0409	10	0.15499	T	0.54	-26.14	14.4693	0.67504	0.0:0.0:0.853:0.147	.	1676;1676	O14647;O14647-2	CHD2_HUMAN;.	R	1676	ENSP00000377747:G1676R;ENSP00000451366:G1676R	ENSP00000377747:G1676R	G	+	1	0	CHD2	91364365	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.719000	0.61937	2.641000	0.89580	0.655000	0.94253	GGG		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
IL4R	3566	broad.mit.edu	37	16	27363945	27363945	+	Missense_Mutation	SNP	C	C	T	rs370524692		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:27363945C>T	ENST00000395762.2	+	7	857	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IL4R_ENST00000543915.2_Missense_Mutation_p.R200W|IL4R_ENST00000380922.3_Missense_Mutation_p.R185W|IL4R_ENST00000449195.1_Missense_Mutation_p.R200W|IL4R_ENST00000170630.2_Missense_Mutation_p.R200W	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	200	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTACAGGGCACGGGTGAGGGC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21078	0.001		0.0	False		,,,				2504	0.0					uc002don.3																			0		p.A199V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(598-600)Cgg>Tgg		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	117.0	117.0	117.0		598,598	3.0	0.2	16		117	0,8600		0,0,4300	no	missense,missense	IL4R	NM_000418.2,NM_001008699.1	101,101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	200/826,200/228	27363945	1,12993	2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363945C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.598C>T	16.37:g.27363945C>T	ENSP00000379111:p.Arg200Trp					IL4R_uc002dom.3_Missense_Mutation_p.R200W|IL4R_uc002dop.4_Missense_Mutation_p.R185W|IL4R_uc010bxy.3_Missense_Mutation_p.R200W|IL4R_uc002doo.3_Missense_Mutation_p.R40W	p.R200W	NM_000418	NP_000409	P24394	IL4RA_HUMAN			6	840	+			200			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.598C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521629	0.64747	2.28E-4	0.0	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	3.93	2.96	0.34315	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.477830	0.21653	N	0.071144	T	0.79964	0.4537	M	0.72118	2.19	0.19300	N	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.984;0.984;0.996	T	0.67825	-0.5570	10	0.66056	D	0.02	-26.2712	7.5541	0.27814	0.0:0.8794:0.0:0.1206	.	185;200;200;200	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	W	200;200;200;200;185;200	ENSP00000410322:R200W;ENSP00000379111:R200W;ENSP00000441667:R200W;ENSP00000370309:R185W;ENSP00000170630:R200W	ENSP00000170630:R200W	R	+	1	2	IL4R	27271446	0.000000	0.05858	0.179000	0.23059	0.366000	0.29705	-0.220000	0.09215	1.008000	0.39264	0.555000	0.69702	CGG		0.552	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
PLCG2	5336	broad.mit.edu	37	16	81954828	81954828	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:81954828A>C	ENST00000359376.3	+	21	2475	c.2261A>C	c.(2260-2262)gAc>gCc	p.D754A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	754					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCCTCTACGACGTCAGCAGA	0.428																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2260-2262)gAc>gCc		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							104.0	97.0	99.0					16																	81954828		1907	4131	6038	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81954828A>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2261A>C	16.37:g.81954828A>C	ENSP00000352336:p.Asp754Ala					PLCG2_uc010chg.1_Missense_Mutation_p.D754A	p.D754A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			20	2439	+			754					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2261A>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588567	0.46110	.	.	ENSG00000197943	ENST00000359376	T	0.65732	-0.17	5.05	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.154588	0.56097	D	0.000027	T	0.48259	0.1490	L	0.41236	1.265	0.58432	D	0.999994	B;B	0.31680	0.049;0.335	B;B	0.22386	0.026;0.039	T	0.44421	-0.9329	10	0.14252	T	0.57	.	13.6553	0.62336	1.0:0.0:0.0:0.0	.	621;754	B4E3H3;P16885	.;PLCG2_HUMAN	A	754	ENSP00000352336:D754A	ENSP00000352336:D754A	D	+	2	0	PLCG2	80512329	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	6.591000	0.74090	2.020000	0.59435	0.383000	0.25322	GAC		0.428	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
OR1D4	653166	broad.mit.edu	37	17	3144469	3144469	+	RNA	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:3144469C>A	ENST00000531680.1	+	0	500					NR_033795.1		P47884	OR1D4_HUMAN	olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										ACCAGGGTGACCTTCTGTGGG	0.542																																						uc002fvf.3																			0											c.(499-501)aCc>aAc		Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																																						653166							g.chr17:3144469C>A	U04681		17p13.3	2014-03-20	2010-07-19		ENSG00000255095	ENSG00000255095		"""GPCR / Class A : Olfactory receptors"""	8185	protein-coding gene	gene with protein product			"""olfactory receptor, family 1, subfamily D, member 4"""			8004088, 10673334	Standard	NR_033795		Approved	OR17-30	uc002fvf.3	P47884	OTTHUMG00000166844		17.37:g.3144469C>A							p.T167N							0	500	+								Q96RA5|Q9UM75	Missense_Mutation	SNP	ENST00000531680.1	37	c.500C>A																																																																																					0.542	OR1D4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391569.1	NM_003552	
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578211	7578214	+	Frame_Shift_Del	DEL	CGAA	CGAA	-	rs397516436|rs587778720		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7578211_7578214delCGAA	ENST00000269305.4	-	6	824_827	c.635_638delTTCG	c.(634-639)tttcgafs	p.FR212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.FR212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.FR212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.FR212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.FR212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.FR212fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R213L(38)|p.R213Q(29)|p.R81*(21)|p.R120*(21)|p.F212fs*3(12)|p.0?(8)|p.R213P(5)|p.?(5)|p.R213G(5)|p.R120L(4)|p.R81L(4)|p.R213fs*35(3)|p.R213fs*34(3)|p.R120Q(2)|p.R81Q(2)|p.F212S(2)|p.F212L(2)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.F212Y(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACACTATGTCGAAAAGTGTTTCT	0.534		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		437	Substitution - Nonsense(292)|Substitution - Missense(97)|Deletion - Frameshift(22)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.R213*(467)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(23)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.R213P(10)|p.T211T(9)|p.0?(8)|p.R213G(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.R213R(5)|p.R120L(4)|p.F212S(4)|p.R81L(4)|p.T211N(4)|p.R213fs*35(4)|p.T211fs*4(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.T211fs*5(2)|p.R81Q(2)|p.R213>L(2)|p.F212Y(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.T211A(2)|p.T211fs*28(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.T211S(1)|p.T211P(1)|p.R209fs*6(1)	large_intestine(107)|breast(48)|lung(42)|upper_aerodigestive_tract(33)|oesophagus(25)|central_nervous_system(20)|stomach(19)|prostate(18)|haematopoietic_and_lymphoid_tissue(18)|skin(17)|urinary_tract(17)|ovary(17)|liver(16)|biliary_tract(9)|endometrium(6)|soft_tissue(6)|kidney(5)|pancreas(5)|bone(4)|eye(2)|vulva(1)|autonomic_ganglia(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD011205|CM004906|CM022474|CM951226	TP53	D|M		c.(634-639)tttcgafs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211_7578214delCGAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.635_638delTTCG	17.37:g.7578211_7578214delCGAA	ENSP00000269305:p.Phe212fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	p.F212fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	829_832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.635_638delTTCG	CCDS11118.1																																																																																				0.534	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CDRT1	374286	broad.mit.edu	37	17	15517208	15517208	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:15517208C>T	ENST00000395906.3	-	3	809	c.810G>A	c.(808-810)ggG>ggA	p.G270G	RP11-385D13.1_ENST00000455584.2_Silent_p.G580G	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	270										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATTTGCTGAACCCAGAAGACA	0.488																																						uc002gor.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1738-1740)ggG>ggA		Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.							16.0	24.0	22.0					17																	15517208		2163	4255	6418	SO:0001819	synonymous_variant	10626							g.chr17:15517208C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.810G>A	17.37:g.15517208C>T						CDRT1_uc002gov.4_Silent_p.G270G	p.G580G			O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	8	2077	-			270					O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.1740G>A	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	C	7.236	0.600259	0.13939	.	.	ENSG00000251537	ENST00000455584	.	.	.	5.34	-2.37	0.06643	.	0.000000	0.42964	D	0.000622	T	0.26593	0.0650	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.20240	-1.0281	6	0.87932	D	0	.	1.3604	0.02190	0.1322:0.2044:0.2599:0.4035	.	.	.	.	D	595	.	ENSP00000402644:G595D	G	-	2	0	RP11-385D13.1	15457933	0.001000	0.12720	0.091000	0.20842	0.938000	0.57974	-0.160000	0.10041	-0.156000	0.11079	0.484000	0.47621	GGT		0.488	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	
KPNB1	3837	broad.mit.edu	37	17	45734349	45734349	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:45734349delA	ENST00000290158.4	+	4	813	c.406delA	c.(406-408)aatfs	p.N136fs	KPNB1_ENST00000540627.1_De_novo_Start_InFrame|KPNB1_ENST00000537679.1_De_novo_Start_InFrame|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_De_novo_Start_InFrame	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	136					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GCTGGTGGCCAATGTCACAAA	0.483																																						uc002ilt.1																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(406-408)aatfs		Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.							176.0	144.0	155.0					17																	45734349		2203	4300	6503	SO:0001589	frameshift_variant	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45734349delA	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.406delA	17.37:g.45734349delA	ENSP00000290158:p.Asn136fs					KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	p.N136fs	NM_002265	NP_002256	Q14974	IMB1_HUMAN			3	742	+			136					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Frame_Shift_Del	DEL	ENST00000290158.4	37	c.406delA	CCDS11513.1																																																																																				0.483	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265	
RBBP8	5932	broad.mit.edu	37	18	20573449	20573449	+	Silent	SNP	C	C	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:20573449C>G	ENST00000399722.2	+	11	2010	c.1659C>G	c.(1657-1659)ccC>ccG	p.P553P	RBBP8_ENST00000327155.5_Silent_p.P553P|RBBP8_ENST00000399725.2_Silent_p.P553P|RBBP8_ENST00000360790.5_Silent_p.P553P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	553	Damage-recruitment motif.				blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.P553P(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGGGGAGCCCTGTTCACAGG	0.438								Homologous recombination																														uc002kua.3																			2	Substitution - coding silent(2)	p.P553P(3)	endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1657-1659)ccC>ccG	Homologous recombination	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.							43.0	45.0	44.0					18																	20573449		2202	4299	6501	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20573449C>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1659C>G	18.37:g.20573449C>G						RBBP8_uc002ktw.3_Silent_p.P553P|RBBP8_uc002kty.3_Silent_p.P553P|RBBP8_uc002ktz.3_Silent_p.P553P|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	p.P553P	NM_203291	NP_976036	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		10	1782	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		553					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.1659C>G	CCDS11875.1																																																																																				0.438	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
PSMA8	143471	broad.mit.edu	37	18	23738210	23738210	+	Splice_Site	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:23738210T>A	ENST00000308268.6	+	4	584		c.e4+2		PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCTTGGAAGGTGAGTCATGAA	0.299																																						uc002kvq.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.e4+2		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.							122.0	127.0	126.0					18																	23738210		2203	4300	6503	SO:0001630	splice_region_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23738210T>A	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.495+2T>A	18.37:g.23738210T>A						PSMA8_uc002kvo.3_Splice_Site_p.K121_splice|PSMA8_uc002kvp.3_Splice_Site_p.K159_splice|PSMA8_uc002kvr.3_Splice_Site_p.K133_splice	p.K165_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		4	609	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		165					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Splice_Site	SNP	ENST00000308268.6	37	c.495_splice	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247232	0.39697	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	.	.	.	5.15	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8416	0.29402	0.0:0.2473:0.0:0.7527	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA8	21992208	1.000000	0.71417	0.778000	0.31720	0.738000	0.42128	4.104000	0.57790	0.122000	0.18314	-0.296000	0.09543	.		0.299	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	Intron
SERPINB3	6317	broad.mit.edu	37	18	61323223	61323223	+	Missense_Mutation	SNP	C	C	T	rs143634391		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:61323223C>T	ENST00000283752.5	-	8	984	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D229N	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	281					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACGTGTC	0.418																																						uc002lji.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(841-843)Gat>Aat		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.		C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	152.0	129.0	137.0		841	-6.2	0.0	18	dbSNP_134	137	0,8600		0,0,4300	no	missense	SERPINB3	NM_006919.2	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	281/391	61323223	3,13003	2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323223C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.841G>A	18.37:g.61323223C>T	ENSP00000283752:p.Asp281Asn					SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D229N	p.D281N	NM_006919	NP_008850	P29508	SPB3_HUMAN			7	985	-			281					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.841G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341868	0.05243	6.81E-4	0.0	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84223	-1.82;-1.82	3.07	-6.15	0.02105	Serpin domain (3);	1.297770	0.05574	N	0.571630	T	0.68915	0.3053	N	0.17345	0.48	0.09310	N	1	B;B	0.17852	0.011;0.024	B;B	0.19666	0.008;0.026	T	0.54682	-0.8257	10	0.25751	T	0.34	.	4.0631	0.09847	0.0863:0.2334:0.1713:0.509	.	229;281	P29508-2;P29508	.;SPB3_HUMAN	N	281;229	ENSP00000283752:D281N;ENSP00000329498:D229N	ENSP00000283752:D281N	D	-	1	0	SERPINB3	59474203	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-11.221000	0.00004	-3.328000	0.00186	-0.483000	0.04790	GAT		0.418	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
FARSA	2193	broad.mit.edu	37	19	13041262	13041262	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:13041262C>T	ENST00000314606.4	-	3	383	c.365G>A	c.(364-366)gGg>gAg	p.G122E	FARSA_ENST00000423140.2_Missense_Mutation_p.G122E|FARSA_ENST00000588025.1_Missense_Mutation_p.G162E|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	122					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CACCCGGGGCCCGTCAGCCGC	0.637																																						uc002mvs.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(364-366)gGg>gAg		Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	L-Phenylalanine(DB00120)						87.0	86.0	86.0					19																	13041262		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13041262C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.365G>A	19.37:g.13041262C>T	ENSP00000320309:p.Gly122Glu					FARSA_uc010xmv.1_Missense_Mutation_p.G122E	p.G122E	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			2	413	-			122					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.365G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455579	0.43634	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.63913	-0.07;0.42	5.38	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.75447	2.3	0.80722	D	1	P;B	0.35481	0.504;0.038	B;B	0.36719	0.231;0.006	T	0.57289	-0.7837	10	0.13470	T	0.59	-55.6598	13.0815	0.59117	0.0:0.9205:0.0:0.0795	.	122;122	B4E363;Q9Y285	.;SYFA_HUMAN	E	122	ENSP00000320309:G122E;ENSP00000396548:G122E	ENSP00000320309:G122E	G	-	2	0	FARSA	12902262	1.000000	0.71417	0.974000	0.42286	0.545000	0.35147	7.063000	0.76714	1.284000	0.44531	0.462000	0.41574	GGG		0.637	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461	
ZNF681	148213	broad.mit.edu	37	19	23927229	23927229	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:23927229A>C	ENST00000402377.3	-	4	1264	c.1123T>G	c.(1123-1125)Ttt>Gtt	p.F375V	ZNF681_ENST00000395385.3_Missense_Mutation_p.F306V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GACTGCCTAAAGGCTTTGCCA	0.413																																						uc002nrk.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1123-1125)Ttt>Gtt		Homo sapiens zinc finger protein 681 (ZNF681), mRNA.							68.0	72.0	71.0					19																	23927229		2199	4298	6497	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927229A>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1123T>G	19.37:g.23927229A>C	ENSP00000384000:p.Phe375Val					ZNF681_uc002nrl.4_Missense_Mutation_p.F306V|ZNF681_uc002nrj.4_Missense_Mutation_p.F306V	p.F375V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			3	1265	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	375					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1123T>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	14.62	2.590313	0.46214	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.47528	0.84;0.84	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71796	0.3382	H	0.94886	3.595	0.34154	D	0.667862	D	0.89917	1.0	D	0.81914	0.995	T	0.77064	-0.2726	9	0.87932	D	0	.	6.6698	0.23062	1.0:0.0:0.0:0.0	.	375	Q96N22	ZN681_HUMAN	V	375;306	ENSP00000384000:F375V;ENSP00000378783:F306V	ENSP00000378783:F306V	F	-	1	0	ZNF681	23719069	0.976000	0.34144	0.225000	0.23894	0.039000	0.13416	4.552000	0.60747	0.663000	0.31027	0.260000	0.18958	TTT		0.413	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
ZNF569	148266	broad.mit.edu	37	19	37905163	37905163	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:37905163T>C	ENST00000316950.6	-	6	954	c.397A>G	c.(397-399)Aga>Gga	p.R133G	ZNF569_ENST00000392149.2_Missense_Mutation_p.R133G|ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000592490.1_3'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTGTGTCTGGAAGGGAAA	0.323																																						uc002ogj.3																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(469-471)Aga>Gga		Homo sapiens zinc finger protein 569 (ZNF569), mRNA.							85.0	84.0	84.0					19																	37905163		2203	4299	6502	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905163T>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.397A>G	19.37:g.37905163T>C	ENSP00000325018:p.Arg133Gly					ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R133G	p.R157G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1401	-			133					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.469A>G	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.913312	0.00056	.	.	ENSG00000196437	ENST00000316950	T	0.07688	3.17	3.48	-0.354	0.12591	.	2.072440	0.02886	N	0.133550	T	0.06005	0.0156	L	0.32530	0.975	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.07813	T	0.8	.	3.4581	0.07523	0.1711:0.2219:0.0:0.607	.	133	Q5MCW4	ZN569_HUMAN	G	133	ENSP00000325018:R133G	ENSP00000325018:R133G	R	-	1	2	ZNF569	42597003	0.000000	0.05858	0.110000	0.21437	0.241000	0.25554	-0.968000	0.03817	0.068000	0.16574	-0.326000	0.08463	AGA		0.323	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
PRX	57716	broad.mit.edu	37	19	40903183	40903183	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:40903183C>T	ENST00000324001.7	-	7	1346	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	359					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAAACTAAGGCGGGGCATCTT	0.637																																						uc002onr.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1075-1077)cGc>cAc		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.							35.0	39.0	38.0					19																	40903183		2202	4298	6500	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903183C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1076G>A	19.37:g.40903183C>T	ENSP00000326018:p.Arg359His					PRX_uc002onq.3_Missense_Mutation_p.R220H|PRX_uc002ons.3_3'UTR	p.R359H	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	1345	-			359					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1076G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373544	0.24857	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01133	5.29	4.56	4.56	0.56223	.	0.301034	0.29940	N	0.010801	T	0.01661	0.0053	L	0.48642	1.525	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.57004	-0.7885	10	0.46703	T	0.11	-8.242	12.7032	0.57045	0.0:0.8327:0.1673:0.0	.	359	Q9BXM0	PRAX_HUMAN	H	359	ENSP00000326018:R359H	ENSP00000326018:R359H	R	-	2	0	PRX	45595023	0.001000	0.12720	0.995000	0.50966	0.825000	0.46686	-0.296000	0.08287	2.359000	0.80004	0.561000	0.74099	CGC		0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
SIGLEC8	27181	broad.mit.edu	37	19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T	rs200891335		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:51960834C>T	ENST00000321424.3	-	2	680	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	205	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17273	0.0		0.0	False		,,,				2504	0.0					uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(613-615)cGc>cAc		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.		C	HIS/ARG	2,4404		0,2,2201	50.0	50.0	50.0		614	-5.4	0.0	19		50	0,8600		0,0,4300	no	missense	SIGLEC8	NM_014442.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	205/500	51960834	2,13004	2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960834C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.614G>A	19.37:g.51960834C>T	ENSP00000321077:p.Arg205His					SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	p.R205H	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	681	-		all_neural(266;0.0199)	205			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.614G>A	CCDS33086.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	0.085	-1.177021	0.01646	4.54E-4	0.0	ENSG00000105366	ENST00000321424	T	0.21932	1.98	2.69	-5.38	0.02673	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.843930	0.03177	N	0.171557	T	0.08582	0.0213	N	0.16166	0.38	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.23190	-1.0195	10	0.12103	T	0.63	.	0.1809	0.00123	0.2937:0.1967:0.149:0.3607	.	205	Q9NYZ4	SIGL8_HUMAN	H	205	ENSP00000321077:R205H	ENSP00000321077:R205H	R	-	2	0	SIGLEC8	56652646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.339000	0.00506	-1.836000	0.01190	-0.442000	0.05670	CGC		0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
NLRP7	199713	broad.mit.edu	37	19	55451643	55451643	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:55451643C>T	ENST00000590030.1	-	3	584	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	NLRP7_ENST00000446217.1_Missense_Mutation_p.V210M|NLRP7_ENST00000592784.1_Missense_Mutation_p.V182M|NLRP7_ENST00000328092.5_Missense_Mutation_p.V182M|NLRP7_ENST00000588756.1_Missense_Mutation_p.V182M|NLRP7_ENST00000448121.2_Missense_Mutation_p.V182M|NLRP7_ENST00000340844.2_Missense_Mutation_p.V182M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	182	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.V182M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTTTCCCCACGCCTGCGGGG	0.562																																						uc002qih.4																			1	Substitution - Missense(1)	p.V182M(2)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(544-546)Gtg>Atg		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							118.0	121.0	120.0					19																	55451643		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451643C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.544G>A	19.37:g.55451643C>T	ENSP00000465520:p.Val182Met					NLRP7_uc010esk.3_Missense_Mutation_p.V182M|NLRP7_uc002qig.4_Missense_Mutation_p.V182M|NLRP7_uc002qii.4_Missense_Mutation_p.V182M|NLRP7_uc010esl.3_Missense_Mutation_p.V210M	p.V182M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	620	-			182			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.544G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888316	0.33348	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	1.87	0.803	0.18691	NACHT nucleoside triphosphatase (1);	1.452680	0.05222	N	0.508734	T	0.80308	0.4599	L	0.28694	0.88	0.09310	N	0.999996	D;D;D;D	0.56968	0.978;0.978;0.978;0.973	P;P;P;P	0.51385	0.668;0.668;0.668;0.538	T	0.68209	-0.5469	10	0.72032	D	0.01	.	6.5523	0.22442	0.0:0.8346:0.0:0.1654	.	210;182;182;182	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	M	182;182;182;210	ENSP00000329568:V182M;ENSP00000409137:V182M;ENSP00000339491:V182M;ENSP00000414273:V210M	ENSP00000329568:V182M	V	-	1	0	NLRP7	60143455	0.001000	0.12720	0.008000	0.14137	0.074000	0.17049	-0.006000	0.12833	0.350000	0.24002	0.455000	0.32223	GTG		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
USP29	57663	broad.mit.edu	37	19	57641754	57641754	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:57641754T>A	ENST00000254181.4	+	4	2165	c.1711T>A	c.(1711-1713)Tct>Act	p.S571T	USP29_ENST00000598197.1_Missense_Mutation_p.S571T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	571	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGATGATTTCTGAGATCAA	0.468																																						uc002qny.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1711-1713)Tct>Act		Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.							91.0	95.0	94.0					19																	57641754		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641754T>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1711T>A	19.37:g.57641754T>A	ENSP00000254181:p.Ser571Thr					USP29_uc021vci.1_Missense_Mutation_p.S571T	p.S571T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	2067	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	571						Missense_Mutation	SNP	ENST00000254181.4	37	c.1711T>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042727	0.36085	.	.	ENSG00000131864	ENST00000254181	T	0.58797	0.31	2.52	1.49	0.22878	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.279622	0.19432	U	0.114417	T	0.61299	0.2336	L	0.58810	1.83	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.48864	-0.8997	10	0.37606	T	0.19	-7.1697	3.7137	0.08430	0.0:0.1973:0.0:0.8027	.	571	Q9HBJ7	UBP29_HUMAN	T	571	ENSP00000254181:S571T	ENSP00000254181:S571T	S	+	1	0	USP29	62333566	0.005000	0.15991	0.031000	0.17742	0.008000	0.06430	0.024000	0.13555	0.391000	0.25143	0.383000	0.25322	TCT		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
NBAS	51594	broad.mit.edu	37	2	15417158	15417158	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:15417158G>T	ENST00000281513.5	-	43	5231	c.5206C>A	c.(5206-5208)Cca>Aca	p.P1736T	NBAS_ENST00000441750.1_Missense_Mutation_p.P1616T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1736					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGGCTTCTGGATCAGTCTTC	0.398																																						uc002rcc.1																			0		p.P1736L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5206-5208)Cca>Aca		Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.							81.0	79.0	80.0					2																	15417158		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15417158G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5206C>A	2.37:g.15417158G>T	ENSP00000281513:p.Pro1736Thr					NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript	p.P1736T	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			42	5232	-			1736					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5206C>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493231	0.84962	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12672	2.66;2.86	5.49	5.49	0.81192	.	0.050714	0.85682	D	0.000000	T	0.41442	0.1159	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.20672	-1.0268	10	0.87932	D	0	.	19.7705	0.96361	0.0:0.0:1.0:0.0	.	1616;1736	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	T	1616;1736	ENSP00000413201:P1616T;ENSP00000281513:P1736T	ENSP00000281513:P1736T	P	-	1	0	NBAS	15334609	1.000000	0.71417	0.711000	0.30485	0.877000	0.50540	9.069000	0.93967	2.756000	0.94617	0.655000	0.94253	CCA		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
ASXL2	55252	broad.mit.edu	37	2	25965918	25965918	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:25965918C>T	ENST00000435504.4	-	13	3581	c.3288G>A	c.(3286-3288)caG>caA	p.Q1096Q	ASXL2_ENST00000336112.4_Silent_p.Q1068Q|ASXL2_ENST00000404843.1_Silent_p.Q579Q|ASXL2_ENST00000272341.4_Silent_p.Q579Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1096					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCCAGCTGGAAACCTG	0.493																																						uc002rgs.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3286-3288)caG>caA		Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.							136.0	135.0	136.0					2																	25965918		2002	4173	6175	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965918C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3288G>A	2.37:g.25965918C>T						ASXL2_uc002rgt.1_Silent_p.Q579Q	p.Q1096Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			11	3509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1096					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.3288G>A																																																																																					0.493	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
IL18R1	8809	broad.mit.edu	37	2	102984390	102984390	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:102984390G>T	ENST00000409599.1	+	4	520	c.164G>T	c.(163-165)aGc>aTc	p.S55I	IL18R1_ENST00000334376.3_Missense_Mutation_p.S55I|IL18R1_ENST00000233957.1_Missense_Mutation_p.S55I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	55	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)	p.S55N(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCACCAAAAGCTGGTACAAA	0.448																																						uc002tbw.4																			1	Substitution - Missense(1)	p.S55N(2)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(163-165)aGc>aTc		Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.							140.0	131.0	134.0					2																	102984390		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102984390G>T	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.164G>T	2.37:g.102984390G>T	ENSP00000387211:p.Ser55Ile					IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.S55I|IL18R1_uc010ywc.2_Missense_Mutation_p.S55I	p.S55I	NM_003855	NP_003846	Q13478	IL18R_HUMAN			2	314	+			55			Ig-like C2-type 1.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.164G>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461855	0.26248	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.23	0.373	0.16178	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.728116	0.13439	N	0.387857	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B;B;B	0.33135	0.128;0.399;0.128	B;B;B	0.28849	0.047;0.095;0.047	T	0.13818	-1.0495	10	0.33940	T	0.23	.	7.0978	0.25319	0.7265:0.0:0.2735:0.0	.	55;55;55	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	I	55	ENSP00000386663:S55I;ENSP00000387211:S55I;ENSP00000233957:S55I;ENSP00000334030:S55I	ENSP00000233957:S55I	S	+	2	0	IL18R1	102350822	0.000000	0.05858	0.061000	0.19648	0.005000	0.04900	0.291000	0.18994	0.201000	0.20466	0.563000	0.77884	AGC		0.448	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-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	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	
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4072-4074)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							119.0	113.0	115.0					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His					SCN7A_uc010fpm.2_Non-coding_Transcript	p.R1358H	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	4203	-			1358						Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
ITGA6	3655	broad.mit.edu	37	2	173338970	173338970	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:173338970G>A	ENST00000264106.6	+	7	1283	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	ITGA6_ENST00000409532.1_Silent_p.A202A|ITGA6_ENST00000343713.4_Silent_p.A316A|ITGA6_ENST00000409080.1_Silent_p.A321A|ITGA6_ENST00000264107.7_Silent_p.A321A|ITGA6_ENST00000375221.2_Silent_p.A360A			P23229	ITA6_HUMAN	integrin, alpha 6	360					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATGATGTGGCGGTGGTGGACC	0.483																																						uc002uhp.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(961-963)gcG>gcA		Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.							103.0	89.0	93.0					2																	173338970		2203	4300	6503	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173338970G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1080G>A	2.37:g.173338970G>A						ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	p.A321A	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		5	1166	+			360					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.963G>A																																																																																					0.483	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
TTN	7273	broad.mit.edu	37	2	179528769	179528769	+	Intron	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:179528769T>G	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K12113Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGCTTTTTAGGAGGCACC	0.388																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							128.0	123.0	125.0					2																	179528769		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528769T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5248A>C	2.37:g.179528769T>G						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.K259Q		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	T	17.45	3.393127	0.62066	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	5.16	3.93	0.45458	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	D	0.53312	0.959	P	0.50192	0.634	T	0.52071	-0.8624	7	0.23891	T	0.37	.	12.5835	0.56403	0.0:0.0:0.1377:0.8623	.	387	Q71S18	.	Q	387;239	.	ENSP00000376219:K239Q	K	-	1	0	TTN	179237014	0.008000	0.16893	0.571000	0.28486	0.153000	0.21895	0.028000	0.13644	2.064000	0.61679	0.533000	0.62120	AAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ALPP	250	broad.mit.edu	37	2	233246043	233246043	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:233246043C>T	ENST00000392027.2	+	10	1544	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	425					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTCAAGGACGGCGCCCGGC	0.697																																						uc002vsq.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1273-1275)gaC>gaT		Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.							54.0	65.0	61.0					2																	233246043		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246043C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1275C>T	2.37:g.233246043C>T							p.D425D	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	9	1440	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	425					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.1275C>T	CCDS2490.1																																																																																				0.697	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	
COL6A3	1293	broad.mit.edu	37	2	238275874	238275874	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:238275874C>T	ENST00000295550.4	-	11	5408	c.4956G>A	c.(4954-4956)agG>agA	p.R1652R	COL6A3_ENST00000472056.1_Silent_p.R1045R|COL6A3_ENST00000409809.1_Silent_p.R1446R|COL6A3_ENST00000353578.4_Silent_p.R1446R|COL6A3_ENST00000346358.4_Silent_p.R1452R|COL6A3_ENST00000347401.3_Silent_p.R1451R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1652	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAAACTGTCCCTCCTGAAGT	0.433																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4954-4956)agG>agA		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							75.0	65.0	69.0					2																	238275874		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275874C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4956G>A	2.37:g.238275874C>T						COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	p.R1652R	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5241	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1652			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.4956G>A	CCDS33412.1																																																																																				0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
OR6B2	389090	broad.mit.edu	37	2	240969715	240969715	+	Silent	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:240969715G>T	ENST00000402971.2	-	1	191	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	44						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(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGAGGATGATGGCCAGGTTCT	0.577																																						uc010zoc.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(130-132)gcC>gcA		Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.							120.0	126.0	124.0					2																	240969715		2123	4241	6364	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969715G>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.132C>A	2.37:g.240969715G>T						OR6B2_uc002vyr.3_Silent_p.A44A	p.A44A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	0	132	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	44					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.132C>A	CCDS46559.1																																																																																				0.577	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853	
SIRPB1	10326	broad.mit.edu	37	20	1600544	1600544	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:1600544A>G	ENST00000381605.4	-	1	111	c.47T>C	c.(46-48)cTg>cCg	p.L16P	SIRPB1_ENST00000381603.3_Missense_Mutation_p.L16P|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Missense_Mutation_p.L16P|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.L16P|SIRPB1_ENST00000568365.1_Missense_Mutation_p.L16P	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	16					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCGTCATCAGCAGGAAAGG	0.572																																						uc010gai.3																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(46-48)cTg>cCg		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							98.0	86.0	90.0					20																	1600544		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600544A>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.47T>C	20.37:g.1600544A>G	ENSP00000371018:p.Leu16Pro					SIRPB1_uc002wfk.4_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.4_Missense_Mutation_p.L16P	p.L16P	NM_006065	NP_006056	O00241	SIRB1_HUMAN			0	146	-			16					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.47T>C	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.959068	0.34565	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.16597	3.89;4.21;2.33	1.85	1.85	0.25348	Immunoglobulin-like (2);	0.463335	0.15726	U	0.247655	T	0.36276	0.0961	M	0.77103	2.36	0.26431	N	0.975947	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.961;0.972;0.992	T	0.05053	-1.0909	10	0.72032	D	0.01	.	5.7258	0.18013	1.0:0.0:0.0:0.0	.	16;16;16	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	P	16	ENSP00000371018:L16P;ENSP00000371016:L16P;ENSP00000279477:L16P	ENSP00000279477:L16P	L	-	2	0	SIRPB1	1548544	0.997000	0.39634	0.302000	0.25058	0.048000	0.14542	1.376000	0.34306	1.107000	0.41642	0.338000	0.21704	CTG		0.572	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
NINL	22981	broad.mit.edu	37	20	25457045	25457045	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:25457045G>A	ENST00000278886.6	-	17	2955	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	961					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGCCTCAGGGGTGGCTCCCA	0.692																																						uc002wux.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2881-2883)cCc>cTc		Homo sapiens ninein-like (NINL), mRNA.							16.0	18.0	18.0					20																	25457045		2135	4198	6333	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457045G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2882C>T	20.37:g.25457045G>A	ENSP00000278886:p.Pro961Leu					NINL_uc010gdn.1_Intron	p.P961L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			16	2956	-			961					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2882C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770321	0.00645	.	.	ENSG00000101004	ENST00000278886	T	0.23950	1.88	3.26	-6.51	0.01878	.	5.007210	0.01005	N	0.003743	T	0.11410	0.0278	N	0.19112	0.55	0.09310	N	1	B	0.27625	0.183	B	0.14578	0.011	T	0.26018	-1.0115	10	0.07990	T	0.79	10.7608	3.6547	0.08217	0.0843:0.2847:0.1284:0.5026	.	961	Q9Y2I6	NINL_HUMAN	L	961	ENSP00000278886:P961L	ENSP00000278886:P961L	P	-	2	0	NINL	25405045	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.359000	0.01085	-3.776000	0.00108	-1.210000	0.01631	CCC		0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
PPP1R16B	26051	broad.mit.edu	37	20	37547256	37547256	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:37547256G>A	ENST00000299824.1	+	11	1840	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGTTCAAGGCCCCCATAGA	0.577																																						uc002xje.3																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1651-1653)Gcc>Acc		Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.							54.0	52.0	53.0					20																	37547256		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547256G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1651G>A	20.37:g.37547256G>A	ENSP00000299824:p.Ala551Thr					PPP1R16B_uc010ggc.3_Missense_Mutation_p.A509T	p.A551T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			10	1840	+		Myeloproliferative disorder(115;0.00878)	551					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1651G>A	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664101	0.67700	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.77098	-0.79;-1.07	5.35	5.35	0.76521	.	0.188207	0.48767	D	0.000177	D	0.84397	0.5463	M	0.61703	1.905	0.32897	D	0.512592	D;D	0.69078	0.997;0.994	P;P	0.58210	0.835;0.835	D	0.88548	0.3114	10	0.66056	D	0.02	.	17.2316	0.86985	0.0:0.0:1.0:0.0	.	509;551	E9PFS8;Q96T49	.;PP16B_HUMAN	T	551;509	ENSP00000299824:A551T;ENSP00000362428:A509T	ENSP00000299824:A551T	A	+	1	0	PPP1R16B	36980670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.961000	0.63681	2.498000	0.84270	0.655000	0.94253	GCC		0.577	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
BMP7	655	broad.mit.edu	37	20	55777537	55777537	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:55777537G>A	ENST00000395863.3	-	3	1259	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.L252L|BMP7_ENST00000395864.3_Silent_p.L252L	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	252					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCACCATCCAGCGTCTCCACC	0.607																																						uc010gip.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(754-756)Ctg>Ttg		Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.							39.0	35.0	36.0					20																	55777537		2203	4300	6503	SO:0001819	synonymous_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55777537G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.754C>T	20.37:g.55777537G>A						BMP7_uc002xyc.3_Silent_p.L252L	p.L252L	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		2	1283	-	all_lung(29;0.0133)|Melanoma(10;0.242)		252					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.754C>T	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010677	0.19277	.	.	ENSG00000101144	ENST00000433911	.	.	.	4.78	1.12	0.20585	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.48571	D	0.999671	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	5.0333	0.14421	0.1513:0.0:0.5417:0.307	.	.	.	.	V	173	.	.	A	-	2	0	BMP7	55210944	0.251000	0.23961	0.717000	0.30585	0.940000	0.58332	0.539000	0.23175	0.389000	0.25086	0.561000	0.74099	GCT		0.607	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
CACNG2	10369	broad.mit.edu	37	22	36983511	36983511	+	Splice_Site	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:36983511C>T	ENST00000300105.6	-	2	1277		c.e2+1		CACNG2_ENST00000480002.1_5'Flank	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2						membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCACTCACGGAGGAAATA	0.507																																						uc003aps.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.e2+1		Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.							215.0	172.0	186.0					22																	36983511		2203	4300	6503	SO:0001630	splice_region_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36983511C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.295+1G>A	22.37:g.36983511C>T							p.R99_splice	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			2	364	-			99					Q2M1M1|Q5TGT3|Q9UGZ7	Splice_Site	SNP	ENST00000300105.6	37	c.295_splice	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391031	0.62066	.	.	ENSG00000166862	ENST00000300105	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1253	0.81392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNG2	35313457	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	6.954000	0.76001	2.153000	0.67306	0.561000	0.74099	.		0.507	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		Intron
LINC00207	388910	broad.mit.edu	37	22	44967345	44967345	+	lincRNA	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:44967345C>T	ENST00000605505.1	+	0	336					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						TCTGGAGGGACGTCCTGTCAG	0.557																																						uc011aqg.2																			0				lung(3)	3								Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.							71.0	77.0	75.0					22																	44967345		2057	4197	6254			388910							g.chr22:44967345C>T	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44967345C>T						LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript								3		+									Missense_Mutation	SNP	ENST00000605505.1	37	c.348C>T		.	.	.	.	.	.	.	.	.	.	C	3.146	-0.175254	0.06421	.	.	ENSG00000187012	ENST00000334566	.	.	.	0.666	-0.54	0.11861	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.09310	N	1	P	0.40681	0.727	B	0.21546	0.035	T	0.12889	-1.0530	6	0.87932	D	0	.	.	.	.	.	72	Q5JZ73	.	M	72	.	ENSP00000334101:T72M	T	+	2	0	NCRNA00207	43346009	0.005000	0.15991	0.048000	0.18961	0.011000	0.07611	-0.982000	0.03762	-0.186000	0.10533	-0.339000	0.08088	ACG		0.557	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409	
CHL1	10752	broad.mit.edu	37	3	424158	424158	+	Splice_Site	SNP	G	G	T	rs528632674		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:424158G>T	ENST00000256509.2	+	18	2622	c.1980G>T	c.(1978-1980)gaG>gaT	p.E660D	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site_p.E644D	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACTACCAGAGTATATTGTTG	0.338																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e18-1		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							76.0	91.0	86.0					3																	424158		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424158G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1979-1G>T	3.37:g.424158G>T						CHL1_uc003bou.3_Splice_Site_p.E644_splice|CHL1_uc003bow.2_Splice_Site_p.E644_splice|CHL1_uc011asi.2_Splice_Site_p.E660_splice|BC065754_uc003box.1_Intron	p.E660_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	18	2621	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	644			Fibronectin type-III 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1979_splice	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091597	0.36952	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.57273	0.41;0.41	4.75	-0.241	0.13043	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056347	0.64402	D	0.000001	T	0.41673	0.1169	L	0.55103	1.725	0.50813	D	0.999899	B;B;B	0.14805	0.006;0.006;0.011	B;B;B	0.26693	0.04;0.04;0.072	T	0.19289	-1.0310	10	0.11182	T	0.66	.	9.5206	0.39133	0.5468:0.0:0.4532:0.0	.	644;644;660	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	D	660;644	ENSP00000256509:E660D;ENSP00000380628:E644D	ENSP00000256509:E660D	E	+	3	2	CHL1	399158	0.946000	0.32159	0.754000	0.31244	0.913000	0.54294	0.048000	0.14078	-0.051000	0.13334	0.591000	0.81541	GAG		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Missense_Mutation
POLQ	10721	broad.mit.edu	37	3	121206922	121206922	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:121206922T>G	ENST00000264233.5	-	16	4984	c.4856A>C	c.(4855-4857)aAa>aCa	p.K1619T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1619					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCAGTTAATTTTGATTTTTC	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4855-4857)aAa>aCa	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							213.0	211.0	212.0					3																	121206922		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206922T>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4856A>C	3.37:g.121206922T>G	ENSP00000264233:p.Lys1619Thr					POLQ_uc003eed.3_Missense_Mutation_p.K791T	p.K1619T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	15	4985	-			1619					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4856A>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	7.175	0.588359	0.13812	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.52983	0.64	6.17	-9.78	0.00496	.	0.674097	0.15655	N	0.251211	T	0.24736	0.0600	L	0.29908	0.895	0.09310	N	1	P;P	0.35433	0.501;0.493	B;B	0.35607	0.081;0.206	T	0.08597	-1.0714	10	0.40728	T	0.16	.	6.5802	0.22589	0.2952:0.4108:0.0:0.294	.	1619;791	O75417;O75417-2	DPOLQ_HUMAN;.	T	1242;1619;1755	ENSP00000264233:K1619T	ENSP00000264233:K1619T	K	-	2	0	POLQ	122689612	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.845000	0.04340	-2.346000	0.00621	-1.114000	0.02060	AAA		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
EFCAB12	90288	broad.mit.edu	37	3	129137225	129137225	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:129137225G>A	ENST00000505956.1	-	3	715	c.553C>T	c.(553-555)Cct>Tct	p.P185S	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P185S	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	185							calcium ion binding (GO:0005509)										GACAGGGCAGGGGGCTCGGGC	0.602																																						uc003emg.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						c.(553-555)Cct>Tct		Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.							37.0	35.0	36.0					3																	129137225		1911	4121	6032	SO:0001583	missense	90288							g.chr3:129137225G>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.553C>T	3.37:g.129137225G>A	ENSP00000420854:p.Pro185Ser						p.P185S	NM_207307	NP_997190					2	716	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.553C>T	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.941982	0.00479	.	.	ENSG00000172771	ENST00000505956;ENST00000326085;ENST00000503957	T;T;T	0.29917	2.59;2.59;1.55	4.82	-5.14	0.02875	.	0.976300	0.08390	N	0.953063	T	0.13756	0.0333	N	0.12746	0.255	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.29941	-0.9995	10	0.25106	T	0.35	-0.0633	7.2875	0.26348	0.5429:0.1187:0.3384:0.0	.	185	Q6NXP0	CC025_HUMAN	S	185;185;35	ENSP00000420854:P185S;ENSP00000324241:P185S;ENSP00000421462:P35S	ENSP00000324241:P185S	P	-	1	0	C3orf25	130619915	0.000000	0.05858	0.031000	0.17742	0.055000	0.15305	-2.645000	0.00861	-1.245000	0.02513	-0.367000	0.07326	CCT		0.602	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307	
PRR23C	389152	broad.mit.edu	37	3	138762733	138762733	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:138762733G>A	ENST00000413199.1	-	1	1001	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	PRR23C_ENST00000502927.2_Missense_Mutation_p.R244C|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	244	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AGCTCCGGGCGCGCGTGGGGA	0.642																																						uc011bmt.1																			0				breast(2)|lung(7)|skin(2)	11						c.(730-732)Cgc>Tgc		Homo sapiens proline rich 23C (PRR23C), mRNA.							31.0	34.0	33.0					3																	138762733		692	1591	2283	SO:0001583	missense	389152							g.chr3:138762733G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.730C>T	3.37:g.138762733G>A	ENSP00000396648:p.Arg244Cys						p.R244C	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			0	1002	-			244			Pro-rich.			Missense_Mutation	SNP	ENST00000413199.1	37	c.730C>T	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100952	0.20552	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	2.93	2.03	0.26663	.	0.760767	0.11399	N	0.568063	T	0.48447	0.1500	L	0.31926	0.97	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.27673	-1.0067	9	0.59425	D	0.04	.	7.8245	0.29307	0.0:0.2583:0.7417:0.0	.	244	Q6ZRP0	PR23C_HUMAN	C	244	.	ENSP00000396648:R244C	R	-	1	0	PRR23C	140245423	0.158000	0.22850	0.009000	0.14445	0.106000	0.19336	0.717000	0.25851	0.785000	0.33685	0.455000	0.32223	CGC		0.642	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657	
NMNAT3	349565	broad.mit.edu	37	3	139297857	139297857	+	Silent	SNP	G	G	A	rs79043406	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:139297857G>A	ENST00000296202.7	-	4	531	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NMNAT3_ENST00000511444.1_Silent_p.N13N|NMNAT3_ENST00000339837.5_Silent_p.N13N|NMNAT3_ENST00000512391.1_Silent_p.N50N|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_De_novo_Start_InFrame|NMNAT3_ENST00000406164.1_Silent_p.N13N|NMNAT3_ENST00000413939.2_Intron			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	50					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATAGGTGTCGTTGACAGGAG	0.572													G|||	36	0.0071885	0.0	0.0014	5008	,	,		21318	0.0		0.007	False		,,,				2504	0.0286					uc003etj.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						c.(148-150)aaC>aaT		Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.		G	,	11,4395	19.1+/-41.9	0,11,2192	125.0	116.0	119.0		,39	-1.4	1.0	3	dbSNP_132	119	69,8531	41.7+/-99.0	1,67,4232	no	intron,coding-synonymous	NMNAT3	NM_001200047.1,NM_178177.3	,	1,78,6424	AA,AG,GG		0.8023,0.2497,0.6151	,	,13/216	139297857	80,12926	2203	4300	6503	SO:0001819	synonymous_variant	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139297857G>A	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.150C>T	3.37:g.139297857G>A						NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.N13N|NMNAT3_uc003etl.3_Non-coding_Transcript	p.N50N	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN			1	190	-			50					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Silent	SNP	ENST00000296202.7	37	c.150C>T																																																																																					0.572	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177	
MCF2L2	23101	broad.mit.edu	37	3	182897228	182897228	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:182897228C>T	ENST00000328913.3	-	30	3582	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G	MCF2L2_ENST00000473233.1_3'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1095							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGCCGTCGCCCCCGCAGGAG	0.741																																						uc003fli.1																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3283-3285)ggG>ggA		Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.							17.0	19.0	18.0					3																	182897228		2066	4179	6245	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897228C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3285G>A	3.37:g.182897228C>T							p.G1095G	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3375	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1095					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.3285G>A	CCDS3243.1																																																																																				0.741	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
DRD5	1816	broad.mit.edu	37	4	9784506	9784506	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:9784506C>T	ENST00000304374.2	+	1	1249	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	285					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CACCAGCCTGCGCGCTTCCAT	0.627																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(853-855)Cgc>Tgc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						33.0	31.0	32.0					4																	9784506		2186	4270	6456	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784506C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.853C>T	4.37:g.9784506C>T	ENSP00000306129:p.Arg285Cys						p.R285C	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1249	+			285					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.853C>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.044137	0.55110	.	.	ENSG00000169676	ENST00000304374	T	0.73047	-0.71	4.6	0.162	0.14981	GPCR, rhodopsin-like superfamily (1);	0.120773	0.53938	D	0.000049	T	0.76198	0.3954	M	0.62723	1.935	0.41867	D	0.990254	D	0.76494	0.999	D	0.63597	0.916	T	0.74985	-0.3477	10	0.72032	D	0.01	.	8.7607	0.34672	0.6385:0.2489:0.1126:0.0	.	285	P21918	DRD5_HUMAN	C	285	ENSP00000306129:R285C	ENSP00000306129:R285C	R	+	1	0	DRD5	9393604	1.000000	0.71417	0.847000	0.33407	0.879000	0.50718	2.878000	0.48515	0.134000	0.18681	0.305000	0.20034	CGC		0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
PCDH7	5099	broad.mit.edu	37	4	30724196	30724196	+	Silent	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:30724196G>T	ENST00000361762.2	+	1	2160	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	PCDH7_ENST00000543491.1_Silent_p.T384T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	384	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCGCTTCACGGTCATGGCCC	0.652																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1150-1152)acG>acT		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							27.0	33.0	31.0					4																	30724196		2198	4290	6488	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724196G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1152G>T	4.37:g.30724196G>T						PCDH7_uc011bxx.2_Silent_p.T384T|PCDH7_uc021xnd.1_Silent_p.T384T|PCDH7_uc021xnc.1_Silent_p.T384T	p.T384T	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	2160	+			384			Cadherin 3.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.1152G>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	4.838	0.155831	0.09236	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39820	-0.9595	4	.	.	.	.	2.1849	0.03884	0.2707:0.2422:0.3236:0.1635	.	.	.	.	C	74	.	.	G	+	1	0	PCDH7	30333294	0.000000	0.05858	0.479000	0.27329	0.812000	0.45895	-7.030000	0.00046	-1.961000	0.01016	0.655000	0.94253	GGT		0.652	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
OCIAD1	54940	broad.mit.edu	37	4	48852092	48852092	+	Missense_Mutation	SNP	C	C	T	rs150423557		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:48852092C>T	ENST00000381473.3	+	6	788	c.370C>T	c.(370-372)Cca>Tca	p.P124S	OCIAD1_ENST00000396448.2_Missense_Mutation_p.P124S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P124S|OCIAD1_ENST00000506801.1_Missense_Mutation_p.P70S|OCIAD1_ENST00000425583.2_Missense_Mutation_p.P124S|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Missense_Mutation_p.P97S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P124S|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P124S|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P124S	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	124						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ACGATCTTCACCACCTGGGTA	0.373																																						uc010igk.3																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(385-387)Cca>Tca		Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.		C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	75.0	81.0	79.0		370,370,370,370,385,370	3.4	0.0	4	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	OCIAD1	NM_001079839.2,NM_001079840.2,NM_001079841.2,NM_001079842.2,NM_001168254.1,NM_017830.3	74,74,74,74,74,74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	124/246,124/195,124/188,124/195,129/251,124/246	48852092	1,13005	2203	4300	6503	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48852092C>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.370C>T	4.37:g.48852092C>T	ENSP00000370882:p.Pro124Ser					OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P124S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P124S	p.P129S	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN			5	601	+			124					C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.385C>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	C	3.761	-0.049535	0.07407	2.27E-4	0.0	ENSG00000109180	ENST00000509122;ENST00000505922;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T	0.42513	1.02;0.97;1.0;0.99;1.02;0.98;0.98;1.02;1.02	5.52	3.44	0.39384	.	0.481214	0.22971	N	0.053438	T	0.22003	0.0530	N	0.11698	0.16	0.09310	N	1	B;B;B;B	0.18310	0.016;0.027;0.013;0.02	B;B;B;B	0.17722	0.007;0.019;0.007;0.006	T	0.15321	-1.0441	9	.	.	.	-3.2856	8.7672	0.34711	0.1545:0.7547:0.0:0.0908	.	97;124;124;124	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	S	97;97;124;124;124;124;124;124;70;70;70;70;124;124;124	ENSP00000264312:P124S;ENSP00000379725:P124S;ENSP00000426386:P124S;ENSP00000427389:P124S;ENSP00000370882:P124S;ENSP00000399656:P124S;ENSP00000416943:P124S;ENSP00000423002:P124S;ENSP00000423909:P124S	.	P	+	1	0	OCIAD1	48546849	0.027000	0.19231	0.027000	0.17364	0.237000	0.25408	1.094000	0.30951	1.308000	0.44962	0.591000	0.81541	CCA		0.373	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830	
MOB1B	92597	broad.mit.edu	37	4	71847741	71847741	+	Silent	SNP	A	A	G	rs553172790		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:71847741A>G	ENST00000309395.2	+	6	819	c.618A>G	c.(616-618)gaA>gaG	p.E206E	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Silent_p.E211E	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	206					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										CACTCCAAGAACTGATTGAAA	0.353													A|||	1	0.000199681	0.0	0.0	5008	,	,		17714	0.0		0.001	False		,,,				2504	0.0					uc011cba.2																			0											c.(631-633)gaA>gaG		Homo sapiens MOB kinase activator 1B (MOB1B), transcript variant 1, mRNA.							88.0	84.0	85.0					4																	71847741		2203	4300	6503	SO:0001819	synonymous_variant	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71847741A>G	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.618A>G	4.37:g.71847741A>G						MOB1B_uc003hfw.3_Silent_p.E206E	p.E211E	NM_001244766	NP_001231695	Q7L9L4	MOL1A_HUMAN			6	927	+			206					B2R8U6|B4DRY3|Q8IY23	Silent	SNP	ENST00000309395.2	37	c.633A>G	CCDS34002.1																																																																																				0.353	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468	
SLC39A8	64116	broad.mit.edu	37	4	103184237	103184237	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:103184237G>A	ENST00000394833.2	-	8	1823	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SLC39A8_ENST00000424970.2_Intron|SLC39A8_ENST00000356736.4_Silent_p.L449L	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	449					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAAGGTAATGAGTAGAATGG	0.348																																						uc003hwb.1																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1345-1347)ctC>ctT		Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.							131.0	123.0	126.0					4																	103184237		2203	4300	6503	SO:0001819	synonymous_variant	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103184237G>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.1347C>T	4.37:g.103184237G>A						SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	p.L449L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	7	1876	-		Hepatocellular(203;0.217)	449					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	c.1347C>T	CCDS3656.1																																																																																				0.348	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154	
TET2	54790	broad.mit.edu	37	4	106158045	106158045	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:106158045G>C	ENST00000540549.1	+	3	3806	c.2946G>C	c.(2944-2946)aaG>aaC	p.K982N	TET2_ENST00000305737.2_Missense_Mutation_p.K982N|TET2_ENST00000413648.2_Missense_Mutation_p.K982N|TET2_ENST00000545826.1_Missense_Mutation_p.K982N|TET2_ENST00000394764.1_Missense_Mutation_p.K982N|TET2_ENST00000380013.4_Missense_Mutation_p.K982N|TET2_ENST00000513237.1_Missense_Mutation_p.K1003N			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	982					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCCAATTAAGGTGGAACCTG	0.473			"""Mis N, F"""		MDS																																	uc011cez.2				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0		p.W1003*(2)|p.W1003fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3007-3009)aaG>aaC		Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.							118.0	99.0	105.0					4																	106158045		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158045G>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2946G>C	4.37:g.106158045G>C	ENSP00000442788:p.Lys982Asn					TET2_uc003hxk.3_Missense_Mutation_p.K982N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K982N|TET2_uc010ilp.2_Missense_Mutation_p.K982N|TET2_uc021xql.1_Missense_Mutation_p.K982N	p.K1003N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	2	3414	+		Myeloproliferative disorder(5;0.0393)	982					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.3009G>C	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.25579	1.79;1.79;2.85;1.79;1.79;1.79;1.79	5.79	2.04	0.26737	.	0.000000	0.39274	U	0.001405	T	0.34978	0.0916	L	0.34521	1.04	0.31824	N	0.625585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.989;0.998	T	0.36962	-0.9726	10	0.66056	D	0.02	.	8.7952	0.34874	0.574:0.0:0.426:0.0	.	1003;982;982	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	N	982;982;982;1003;982;982;982	ENSP00000306705:K982N;ENSP00000442788:K982N;ENSP00000442867:K982N;ENSP00000425443:K1003N;ENSP00000369351:K982N;ENSP00000378245:K982N;ENSP00000391448:K982N	ENSP00000265149:K982N	K	+	3	2	TET2	106377494	0.999000	0.42202	0.339000	0.25562	0.372000	0.29890	2.641000	0.46587	0.058000	0.16222	0.655000	0.94253	AAG		0.473	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
EGF	1950	broad.mit.edu	37	4	110880565	110880565	+	Silent	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:110880565C>A	ENST00000265171.5	+	6	1483	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	EGF_ENST00000503392.1_Silent_p.A346A|EGF_ENST00000509793.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGGGATACGCCCTAAGTCGAG	0.502																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1036-1038)gcC>gcA		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						146.0	115.0	125.0					4																	110880565		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110880565C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1038C>A	4.37:g.110880565C>A						EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.A346A	p.A346A	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	5	1490	+		Hepatocellular(203;0.0893)	346			EGF-like 1.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1038C>A	CCDS3689.1																																																																																				0.502	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
TBC1D9	23158	broad.mit.edu	37	4	141578365	141578365	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:141578365C>T	ENST00000442267.2	-	13	2297	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	741							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTTTATTGGTCACACTGTCTA	0.438																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(2221-2223)gtG>gtA		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							156.0	155.0	155.0					4																	141578365		1990	4175	6165	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578365C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2223G>A	4.37:g.141578365C>T							p.V741V	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			12	2495	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	741					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2223G>A	CCDS47136.1																																																																																				0.438	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
PCDHB5	26167	broad.mit.edu	37	5	140517019	140517019	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:140517019C>T	ENST00000231134.5	+	1	2220	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.701																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2002-2004)cCc>cTc		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							45.0	51.0	49.0					5																	140517019		2160	4239	6399	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517019C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2003C>T	5.37:g.140517019C>T	ENSP00000231134:p.Pro668Leu						p.P668L	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2220	+			668			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.2003C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895315	0.33442	.	.	ENSG00000113209	ENST00000231134	T	0.52057	0.68	4.71	4.71	0.59529	Cadherin (2);	.	.	.	.	T	0.56790	0.2009	L	0.49513	1.565	0.34644	D	0.720976	D	0.62365	0.991	D	0.63793	0.918	T	0.66097	-0.6008	9	0.49607	T	0.09	.	8.6053	0.33769	0.0:0.7471:0.1671:0.0858	.	668	Q9Y5E4	PCDB5_HUMAN	L	668	ENSP00000231134:P668L	ENSP00000231134:P668L	P	+	2	0	PCDHB5	140497203	0.000000	0.05858	1.000000	0.80357	0.366000	0.29705	0.157000	0.16402	2.337000	0.79520	0.430000	0.28490	CCC		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
SIMC1	375484	broad.mit.edu	37	5	175717198	175717198	+	Missense_Mutation	SNP	G	G	A	rs371703466		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:175717198G>A	ENST00000443967.1	+	4	1021	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Missense_Mutation_p.R224Q			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	205	Pro-rich.						SUMO polymer binding (GO:0032184)										TGCCCCCTGCGACCTTTGCCA	0.587																																						uc003mds.4																			0											c.(613-615)cGa>cAa		Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.		A		1,4405	2.1+/-5.4	0,1,2202	118.0	89.0	99.0			-8.8	0.0	5		99	0,8600		0,0,4300	no	intron	C5orf25	NM_198567.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			175717198	1,13005	2203	4300	6503	SO:0001583	missense	375484							g.chr5:175717198G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.614G>A	5.37:g.175717198G>A	ENSP00000406571:p.Arg205Gln					C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R224Q|C5orf25_uc003mdu.1_Missense_Mutation_p.R116Q	p.R205Q			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	3	1021	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	205			Pro-rich.		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.614G>A		.	.	.	.	.	.	.	.	.	.	g	0.326	-0.959229	0.02267	2.27E-4	0.0	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.37235	1.94;1.21	4.38	-8.76	0.00830	.	1.899410	0.03005	N	0.148675	T	0.20901	0.0503	.	.	.	0.09310	N	1	B;B	0.18013	0.005;0.025	B;B	0.12156	0.001;0.007	T	0.34576	-0.9823	9	0.10111	T	0.7	.	16.4795	0.84153	0.7155:0.0:0.2845:0.0	.	224;205	B4DRM7;Q8NDZ2	.;CE025_HUMAN	Q	205;224;116	ENSP00000406571:R205Q;ENSP00000410552:R224Q	ENSP00000366489:R116Q	R	+	2	0	C5orf25	175649804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.093000	0.03362	-2.999000	0.00276	-2.916000	0.00090	CGA		0.587	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567	
HK3	3101	broad.mit.edu	37	5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:176311062C>T	ENST00000292432.5	-	14	2022	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	644	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGCTTCCCGCAACAGACT	0.587																																						uc003mfa.3																			0		p.R644W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1930-1932)cGg>cAg		Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.							148.0	145.0	146.0					5																	176311062		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176311062C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1931G>A	5.37:g.176311062C>T	ENSP00000292432:p.Arg644Gln					HK3_uc003mez.3_Missense_Mutation_p.R200Q	p.R644Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2023	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	644			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1931G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246139	0.59103	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.98164	-4.76;-4.76	5.8	5.8	0.92144	Hexokinase, N-terminal (1);	0.000000	0.47852	D	0.000213	D	0.97876	0.9302	L	0.35288	1.05	0.38247	D	0.941485	D	0.89917	1.0	D	0.76575	0.988	D	0.98931	1.0787	10	0.87932	D	0	.	12.8383	0.57786	0.0:0.8842:0.0:0.1158	.	644	P52790	HXK3_HUMAN	Q	644;25	ENSP00000292432:R644Q;ENSP00000424632:R25Q	ENSP00000292432:R644Q	R	-	2	0	HK3	176243668	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	2.701000	0.47094	2.747000	0.94245	0.462000	0.41574	CGG		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
DSP	1832	broad.mit.edu	37	6	7585169	7585169	+	Silent	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:7585169T>A	ENST00000379802.3	+	24	8015	c.7674T>A	c.(7672-7674)gcT>gcA	p.A2558A	DSP_ENST00000418664.2_Silent_p.A1959A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2558	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAATTTGCTGACATGATCT	0.478																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7672-7674)gcT>gcA		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							101.0	96.0	98.0					6																	7585169		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585169T>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7674T>A	6.37:g.7585169T>A						DSP_uc003mxq.1_Silent_p.A1959A|DSP_uc021yle.1_Silent_p.A2115A	p.A2558A	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	7953	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2558			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.7674T>A	CCDS4501.1																																																																																				0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
TULP1	7287	broad.mit.edu	37	6	35480607	35480607	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:35480607T>C	ENST00000229771.6	-	1	108	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TULP1_ENST00000322263.4_Missense_Mutation_p.E10G	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	10					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCCCACACCTCTCGGAGGGT	0.637																																					GBM(55;1027 1091 11115 23439)	uc003okv.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(28-30)gAg>gGg		Homo sapiens tubby like protein 1 (TULP1), mRNA.							59.0	55.0	57.0					6																	35480607		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35480607T>C	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.29A>G	6.37:g.35480607T>C	ENSP00000229771:p.Glu10Gly					TULP1_uc003okw.4_Missense_Mutation_p.E10G|TULP1_uc021yyx.1_Missense_Mutation_p.E10G|TULP1_uc021yyy.1_Missense_Mutation_p.E10G	p.E10G	NM_003322	NP_003313	O00294	TULP1_HUMAN			0	41	-			10					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.29A>G	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767555	0.69878	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	D;D;T	0.85861	-1.9;-2.04;0.27	4.1	4.1	0.47936	.	0.245363	0.35436	N	0.003219	D	0.86703	0.5996	L	0.53249	1.67	0.36829	D	0.886807	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	D	0.88629	0.3168	10	0.87932	D	0	1.8024	11.0161	0.47689	0.0:0.0:0.0:1.0	.	10;10	O00294-2;O00294	.;TULP1_HUMAN	G	10	ENSP00000229771:E10G;ENSP00000319414:E10G;ENSP00000406765:E10G	ENSP00000229771:E10G	E	-	2	0	TULP1	35588585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.796000	0.55507	1.718000	0.51419	0.456000	0.33151	GAG		0.637	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2		
TCTE1	202500	broad.mit.edu	37	6	44255398	44255398	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:44255398C>T	ENST00000371505.4	-	2	287	c.165G>A	c.(163-165)agG>agA	p.R55R	TCTE1_ENST00000371504.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	55										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATATTGGCCCTGGGATGTG	0.547																																						uc003oxi.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(163-165)agG>agA		Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.							169.0	136.0	147.0					6																	44255398		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44255398C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.165G>A	6.37:g.44255398C>T						TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	p.R55R	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	321	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		55					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.165G>A	CCDS4910.1																																																																																				0.547	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
PTCHD4	442213	broad.mit.edu	37	6	47846160	47846160	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:47846160A>G	ENST00000339488.4	-	3	2453	c.2420T>C	c.(2419-2421)cTa>cCa	p.L807P		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	807						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GAAAAACGTTAGGAACACAGG	0.443																																						uc011dwm.2																			0											c.(2419-2421)cTa>cCa		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							95.0	94.0	94.0					6																	47846160		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846160A>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2420T>C	6.37:g.47846160A>G	ENSP00000341914:p.Leu807Pro					PTCHD4_uc011dwn.2_Missense_Mutation_p.L554P	p.L807P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			2	2454	-			807					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2420T>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232221	0.58777	.	.	ENSG00000244694	ENST00000339488	D	0.91894	-2.93	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.92625	0.7657	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.94177	0.7428	10	0.87932	D	0	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	807	Q6ZW05	CF138_HUMAN	P	807	ENSP00000341914:L807P	ENSP00000341914:L807P	L	-	2	0	C6orf138	47954119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.322000	0.78497	0.528000	0.53228	CTA		0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
MLIP	90523	broad.mit.edu	37	6	53986287	53986287	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:53986287T>A	ENST00000274897.5	+	2	219	c.106T>A	c.(106-108)Ttt>Att	p.F36I	MLIP_ENST00000358276.5_Missense_Mutation_p.F30I|MLIP_ENST00000502396.1_Missense_Mutation_p.F47I|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.F36I|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	36	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GATCTTCACATTTGTCCCCAC	0.413																																						uc011dxa.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(139-141)Ttt>Att		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							140.0	136.0	137.0					6																	53986287		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53986287T>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.106T>A	6.37:g.53986287T>A	ENSP00000274897:p.Phe36Ile					MLIP_uc003pcf.2_Missense_Mutation_p.F36I|MLIP_uc003pcg.4_Missense_Mutation_p.F36I|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	p.F47I	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			1	172	+			36					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.139T>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456413	0.84317	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T	0.55234	1.32;0.74;0.78;0.53;0.96	5.13	5.13	0.70059	.	0.229242	0.31188	N	0.008083	T	0.58581	0.2132	M	0.64997	1.995	0.29735	N	0.837562	D;D;D	0.89917	0.999;0.982;1.0	D;P;D	0.87578	0.996;0.84;0.998	T	0.59674	-0.7410	10	0.87932	D	0	-10.2896	11.5986	0.50988	0.0:0.0:0.0:1.0	.	47;36;36	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	I	36;36;47;30;37	ENSP00000274897:F36I;ENSP00000425142:F36I;ENSP00000426290:F47I;ENSP00000351019:F30I;ENSP00000421444:F37I	ENSP00000274897:F36I	F	+	1	0	MLIP	54094246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.309000	0.59135	2.062000	0.61559	0.482000	0.46254	TTT		0.413	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	
LMBRD1	55788	broad.mit.edu	37	6	70411373	70411373	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:70411373T>A	ENST00000370577.3	-	11	1274	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S276C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	349					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S349C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTGGATTACTCAGGTTAGCT	0.294																																						uc003pfa.3																			1	Substitution - Missense(1)	p.S349C(2)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(1045-1047)Agt>Tgt		Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.							57.0	58.0	58.0					6																	70411373		2198	4287	6485	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70411373T>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1045A>T	6.37:g.70411373T>A	ENSP00000359609:p.Ser349Cys					LMBRD1_uc003pez.3_Missense_Mutation_p.S276C|LMBRD1_uc010kal.3_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.3_Non-coding_Transcript	p.S349C	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			10	1321	-			349					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.1045A>T	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655261	0.88056	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.19669	2.13;2.13	5.68	5.68	0.88126	.	0.130771	0.64402	D	0.000001	T	0.06325	0.0163	N	0.08118	0	0.42293	D	0.99214	P	0.38642	0.641	B	0.36959	0.237	T	0.25257	-1.0137	10	0.38643	T	0.18	-9.1267	16.2107	0.82151	0.0:0.0:0.0:1.0	.	349	Q9NUN5	LMBD1_HUMAN	C	349;276	ENSP00000359609:S349C;ENSP00000359602:S276C	ENSP00000359602:S276C	S	-	1	0	LMBRD1	70468094	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.221000	0.78016	2.293000	0.77203	0.477000	0.44152	AGT		0.294	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
SIM1	6492	broad.mit.edu	37	6	100838922	100838922	+	Missense_Mutation	SNP	G	G	C	rs368535355		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:100838922G>C	ENST00000369208.3	-	12	2398	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R	SIM1_ENST00000262901.4_Missense_Mutation_p.P539R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	539	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1615-1617)cCt>cGt		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							70.0	72.0	71.0					6																	100838922		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838922G>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1616C>G	6.37:g.100838922G>C	ENSP00000358210:p.Pro539Arg					SIM1_uc021zdg.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.3_Missense_Mutation_p.P539R	p.P539R	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	2083	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	539			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1616C>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673036	0.47781	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.29917	1.55;1.55	5.9	5.9	0.94986	Single-minded, C-terminal (2);	0.097562	0.64402	D	0.000001	T	0.19087	0.0458	N	0.14661	0.345	0.58432	D	0.999991	P	0.42584	0.784	P	0.45167	0.472	T	0.05178	-1.0901	10	0.66056	D	0.02	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	539	P81133	SIM1_HUMAN	R	539	ENSP00000358210:P539R;ENSP00000262901:P539R	ENSP00000262901:P539R	P	-	2	0	SIM1	100945643	1.000000	0.71417	0.988000	0.46212	0.860000	0.49131	6.653000	0.74382	2.788000	0.95919	0.650000	0.86243	CCT		0.433	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
AIM1	202	broad.mit.edu	37	6	106968654	106968654	+	Missense_Mutation	SNP	C	C	T	rs574757027		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:106968654C>T	ENST00000369066.3	+	2	2834	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAGACCCAAACGTGCATCTGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19692	0.001		0.0	False		,,,				2504	0.0					uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2347-2349)Cgt>Tgt		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							85.0	81.0	82.0					6																	106968654		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968654C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2347C>T	6.37:g.106968654C>T	ENSP00000358062:p.Arg783Cys						p.R783C	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	3259	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	783					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2347C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467214	0.63625	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.75938	-0.98	5.97	5.97	0.96955	.	0.977820	0.08417	N	0.948882	D	0.82742	0.5103	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	P	0.53954	0.738	T	0.81417	-0.0942	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	783	Q9Y4K1	AIM1_HUMAN	C	1191;783	ENSP00000358062:R783C	ENSP00000285105:R1191C	R	+	1	0	AIM1	107075347	1.000000	0.71417	0.974000	0.42286	0.143000	0.21401	4.592000	0.61027	2.836000	0.97738	0.655000	0.94253	CGT		0.468	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
AK9	221264	broad.mit.edu	37	6	109993127	109993127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:109993127delT	ENST00000424296.2	-	5	402	c.326delA	c.(325-327)cacfs	p.H109fs	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Frame_Shift_Del_p.H109fs|AK9_ENST00000368948.2_Frame_Shift_Del_p.H109fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	109	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CATACCAAAGTGACAGACTTC	0.383																																						uc003ptn.2																			0				endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						c.(325-327)cacfs		Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.							84.0	80.0	81.0					6																	109993127		2203	4300	6503	SO:0001589	frameshift_variant	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109993127delT	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.326delA	6.37:g.109993127delT	ENSP00000410186:p.His109fs					AKD1_uc003ptr.4_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.2_Non-coding_Transcript	p.H109fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			4	403	-			109					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.326delA	CCDS55048.1																																																																																				0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
RFX6	222546	broad.mit.edu	37	6	117203548	117203548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:117203548delC	ENST00000332958.2	+	4	539	c.523delC	c.(523-525)cccfs	p.P175fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	175					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAGAAGTTTCCCCTCCTAAC	0.413																																						uc003pxm.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(523-525)cccfs		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							105.0	92.0	96.0					6																	117203548		2203	4300	6503	SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203548delC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.523delC	6.37:g.117203548delC	ENSP00000332208:p.Pro175fs						p.P175fs	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			3	586	+			175					Q5T6B3	Frame_Shift_Del	DEL	ENST00000332958.2	37	c.523delC	CCDS5113.1																																																																																				0.413	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
HOXA9	3205	broad.mit.edu	37	7	27204781	27204781	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:27204781G>A	ENST00000343483.6	-	1	368	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.A99V|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	99					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCCGCCGCCGCCACGGGCGC	0.721			T	"""NUP98, MSI2"""	AML*																																	uc003syt.3				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(295-297)gCg>gTg		Homo sapiens homeobox A9 (HOXA9), mRNA.							7.0	11.0	9.0					7																	27204781		2029	4017	6046	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204781G>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.296C>T	7.37:g.27204781G>A	ENSP00000343619:p.Ala99Val					HOXA9_uc022aar.1_Intron	p.A99V	NM_152739	NP_689952	P31269	HXA9_HUMAN			0	369	-			99					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.296C>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610432	0.46527	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.93604	-3.25	4.51	3.62	0.41486	Hox9, N-terminal activation domain (1);	0.000000	0.47455	D	0.000229	D	0.88706	0.6509	L	0.50333	1.59	0.35079	D	0.763191	B	0.34161	0.439	B	0.32677	0.15	D	0.88906	0.3356	10	0.38643	T	0.18	.	7.7963	0.29150	0.111:0.0:0.889:0.0	.	99	P31269	HXA9_HUMAN	V	99;90;99	ENSP00000343619:A99V	ENSP00000242050:A90V	A	-	2	0	HOXA9	27171306	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.839000	0.55835	2.535000	0.85469	0.561000	0.74099	GCG		0.721	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2		
OGDH	4967	broad.mit.edu	37	7	44714133	44714133	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:44714133C>T	ENST00000222673.5	+	7	954	c.912C>T	c.(910-912)taC>taT	p.Y304Y	OGDH_ENST00000447398.1_Silent_p.Y315Y|OGDH_ENST00000449767.1_Silent_p.Y300Y|OGDH_ENST00000443864.2_Silent_p.Y304Y|OGDH_ENST00000543843.1_Silent_p.Y255Y|OGDH_ENST00000439616.2_Silent_p.Y154Y|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000444676.1_Silent_p.Y319Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	304					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCGTGGACTACGTGATCATGG	0.562																																						uc003tln.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(910-912)taC>taT		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						129.0	104.0	112.0					7																	44714133		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44714133C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.912C>T	7.37:g.44714133C>T						OGDH_uc003tlm.3_Silent_p.Y304Y|OGDH_uc011kbx.2_Silent_p.Y300Y|OGDH_uc011kby.2_Silent_p.Y154Y|OGDH_uc003tlp.3_Silent_p.Y315Y|OGDH_uc011kbz.2_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	p.Y304Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN			6	1071	+			304					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.912C>T	CCDS34627.1																																																																																				0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:55233037C>T	ENST00000275493.2	+	15	1964	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_ENST00000455089.1_Missense_Mutation_p.P551L|EGFR_ENST00000342916.3_Missense_Mutation_p.P596L|EGFR_ENST00000442591.1_Missense_Mutation_p.P596L|EGFR_ENST00000344576.2_Missense_Mutation_p.P596L|EGFR_ENST00000454757.2_Missense_Mutation_p.P543L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					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.P596L(4)		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)	AAGACCTGCCCGGCAGGAGTC	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"""		4	Substitution - Missense(4)	p.P596L(7)	large_intestine(2)|central_nervous_system(2)	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.(1786-1788)cCg>cTg		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)						93.0	81.0	85.0					7																	55233037		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.chr7:55233037C>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.1787C>T	7.37:g.55233037C>T	ENSP00000275493:p.Pro596Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596L	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	2033	+	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)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1787C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224989	0.95173	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.996;0.99;0.994	D	0.86044	0.1521	10	0.87932	D	0	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	551;596;466;596;596;596;543;390	ENSP00000415559:P551L;ENSP00000342376:P596L;ENSP00000345973:P596L;ENSP00000275493:P596L;ENSP00000410031:P596L;ENSP00000395243:P543L	ENSP00000275493:P596L	P	+	2	0	EGFR	55200531	1.000000	0.71417	0.967000	0.41034	0.752000	0.42762	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
NPTX2	4885	broad.mit.edu	37	7	98254345	98254345	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:98254345T>A	ENST00000265634.3	+	3	920	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	252	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTTCACCATCTGCCTGTGG	0.592																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(754-756)aTc>aAc		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							175.0	139.0	151.0					7																	98254345		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254345T>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.755T>A	7.37:g.98254345T>A	ENSP00000265634:p.Ile252Asn						p.I252N	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	932	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		252			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.755T>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862194	0.91511	.	.	ENSG00000106236	ENST00000265634	T	0.63417	-0.04	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.111405	0.64402	D	0.000006	T	0.76528	0.4000	M	0.76574	2.34	0.54753	D	0.999987	D	0.61697	0.99	P	0.60541	0.876	T	0.79918	-0.1600	10	0.87932	D	0	-42.8565	15.0831	0.72130	0.0:0.0:0.0:1.0	.	252	P47972	NPTX2_HUMAN	N	252	ENSP00000265634:I252N	ENSP00000265634:I252N	I	+	2	0	NPTX2	98092281	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.997000	0.88414	2.154000	0.67381	0.459000	0.35465	ATC		0.592	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
LAMB4	22798	broad.mit.edu	37	7	107706294	107706294	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:107706294G>A	ENST00000388781.3	-	21	2832	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P917S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P917S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	917	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGCTTGAGGGATCATCTGGA	0.428																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2749-2751)Ccc>Tcc		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							168.0	159.0	162.0					7																	107706294		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706294G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2749C>T	7.37:g.107706294G>A	ENSP00000373433:p.Pro917Ser					LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	p.P917S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			20	2833	-			917			Laminin EGF-like 9.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2749C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504068	0.85176	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.60171	0.21;0.21;0.21	4.91	4.91	0.64330	EGF-like, laminin (2);	0.000000	0.51477	D	0.000100	T	0.72542	0.3473	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73739	-0.3888	10	0.54805	T	0.06	.	18.2933	0.90137	0.0:0.0:1.0:0.0	.	917	A4D0S4	LAMB4_HUMAN	S	917	ENSP00000205386:P917S;ENSP00000373433:P917S;ENSP00000373432:P917S	ENSP00000205386:P917S	P	-	1	0	LAMB4	107493530	0.986000	0.35501	0.678000	0.29963	0.824000	0.46624	4.730000	0.62015	2.548000	0.85928	0.563000	0.77884	CCC		0.428	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
MET	4233	broad.mit.edu	37	7	116398608	116398608	+	Missense_Mutation	SNP	C	C	A	rs201271860		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:116398608C>A	ENST00000318493.6	+	9	2385	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	MET_ENST00000397752.3_Missense_Mutation_p.T733K|MET_ENST00000436117.2_Missense_Mutation_p.T733K			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACCGAGAGACAAGCATCTTC	0.368			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2197-2199)aCa>aAa		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.							91.0	82.0	85.0					7																	116398608		1830	4078	5908	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116398608C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2198C>A	7.37:g.116398608C>A	ENSP00000317272:p.Thr733Lys					MET_uc022akk.1_Missense_Mutation_p.T733K|MET_uc010lkh.3_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.2_Missense_Mutation_p.T733K|MET_uc011knj.2_Missense_Mutation_p.T303K	p.T733K	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2385	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	733			IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2198C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667759	0.29604	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117;ENST00000422097	T;T;T	0.73789	-0.78;-0.73;1.23	5.53	3.62	0.41486	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.427417	0.28273	N	0.015951	T	0.70631	0.3246	L	0.47078	1.49	0.28271	N	0.924398	B;B;P;B;B	0.34615	0.175;0.088;0.459;0.099;0.372	B;B;B;B;B	0.37833	0.09;0.028;0.259;0.047;0.112	T	0.67413	-0.5677	10	0.87932	D	0	.	14.3819	0.66916	0.0:0.9138:0.0:0.0862	.	733;733;733;733;733	B5A929;E7EQ94;B5A930;P08581-2;P08581	.;.;.;.;MET_HUMAN	K	733;733;733;13	ENSP00000380860:T733K;ENSP00000317272:T733K;ENSP00000410980:T733K	ENSP00000317272:T733K	T	+	2	0	MET	116185844	0.945000	0.32115	0.246000	0.24233	0.449000	0.32228	2.306000	0.43673	0.701000	0.31803	0.585000	0.79938	ACA		0.368	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
MSR1	4481	broad.mit.edu	37	8	16021738	16021738	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:16021738C>T	ENST00000262101.5	-	5	774	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MSR1_ENST00000355282.2_Missense_Mutation_p.R218H|MSR1_ENST00000536385.1_De_novo_Start_OutOfFrame|MSR1_ENST00000381998.4_Missense_Mutation_p.R218H|MSR1_ENST00000350896.3_Missense_Mutation_p.R218H|MSR1_ENST00000445506.2_Missense_Mutation_p.R236H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	218					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTGTAAACACGCTCCTCTAA	0.338																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(706-708)cGt>cAt		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.							130.0	113.0	119.0					8																	16021738		2202	4299	6501	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16021738C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.653G>A	8.37:g.16021738C>T	ENSP00000262101:p.Arg218His					MSR1_uc003wwz.3_Missense_Mutation_p.R218H|MSR1_uc003wxa.3_Missense_Mutation_p.R218H|MSR1_uc003wxb.3_Missense_Mutation_p.R218H|MSR1_uc011kxz.2_5'UTR	p.R236H	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	771	-			218					D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.707G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845268	0.16963	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	4.65	0.776	0.18532	Macrophage scavenger receptor (1);	0.445008	0.21569	N	0.072438	T	0.70219	0.3199	L	0.53249	1.67	0.09310	N	0.999999	B;B;B;B	0.17667	0.014;0.023;0.023;0.014	B;B;B;B	0.14023	0.001;0.01;0.007;0.004	T	0.57619	-0.7780	10	0.40728	T	0.16	.	4.3308	0.11062	0.1489:0.5065:0.0:0.3446	.	236;218;218;218	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	H	218;218;236;218;8;218	ENSP00000262100:R218H;ENSP00000262101:R218H;ENSP00000405453:R236H;ENSP00000347430:R218H;ENSP00000430536:R8H;ENSP00000371428:R218H	ENSP00000262101:R218H	R	-	2	0	MSR1	16066109	0.000000	0.05858	0.011000	0.14972	0.723000	0.41478	-1.192000	0.03052	0.015000	0.14971	0.655000	0.94253	CGT		0.338	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
ZNF395	55893	broad.mit.edu	37	8	28210755	28210755	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:28210755C>T	ENST00000344423.5	-	5	885	c.754G>A	c.(754-756)Gat>Aat	p.D252N	ZNF395_ENST00000523095.1_Missense_Mutation_p.D252N|ZNF395_ENST00000523202.1_Missense_Mutation_p.D252N	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAGCCATGATCAGTTTGGGGA	0.592																																						uc003xgq.3																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(754-756)Gat>Aat		Homo sapiens zinc finger protein 395 (ZNF395), mRNA.							52.0	56.0	55.0					8																	28210755		2203	4299	6502	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28210755C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.754G>A	8.37:g.28210755C>T	ENSP00000340494:p.Asp252Asn					ZNF395_uc003xgt.3_Missense_Mutation_p.D252N|ZNF395_uc003xgr.3_Missense_Mutation_p.D252N|ZNF395_uc003xgs.3_Missense_Mutation_p.D252N	p.D252N	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	4	842	-		Ovarian(32;2.06e-05)	252					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.754G>A	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251845	0.95336	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	D;D;D	0.84442	-1.85;-1.85;-1.85	5.4	5.4	0.78164	.	0.045176	0.85682	D	0.000000	D	0.92525	0.7626	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93155	0.6553	10	0.66056	D	0.02	-16.5323	16.6756	0.85278	0.0:1.0:0.0:0.0	.	252	Q9H8N7	ZN395_HUMAN	N	252	ENSP00000340494:D252N;ENSP00000429640:D252N;ENSP00000428452:D252N	ENSP00000340494:D252N	D	-	1	0	ZNF395	28266674	1.000000	0.71417	0.927000	0.36925	0.994000	0.84299	6.566000	0.73978	2.526000	0.85167	0.561000	0.74099	GAT		0.592	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1		
FER1L6	654463	broad.mit.edu	37	8	125110059	125110059	+	Silent	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:125110059A>G	ENST00000522917.1	+	37	5024	c.4818A>G	c.(4816-4818)gaA>gaG	p.E1606E	FER1L6_ENST00000399018.1_Silent_p.E1606E|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1606	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAACACTGAAGATGTCATTT	0.423																																						uc003yqw.3																			0		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4816-4818)gaA>gaG		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							113.0	106.0	108.0					8																	125110059		1963	4158	6121	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125110059A>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4818A>G	8.37:g.125110059A>G						AK057332_uc003yqy.1_Intron	p.E1606E	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		36	5024	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1606			C2 6.			Silent	SNP	ENST00000522917.1	37	c.4818A>G	CCDS43767.1																																																																																				0.423	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
NFIB	4781	broad.mit.edu	37	9	14155894	14155894	+	Splice_Site	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:14155894T>A	ENST00000380959.3	-	4	1090		c.e4-2		NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000397579.2_Splice_Site|NFIB_ENST00000543693.1_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CAAGGTAACCTGAAAATAAAT	0.274			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc022bdo.1				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e4-1		Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.							31.0	33.0	32.0					9																	14155894		2194	4265	6459	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14155894T>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.617-2A>T	9.37:g.14155894T>A						NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.G206_splice|NFIB_uc003zle.3_Splice_Site_p.G206_splice|NFIB_uc022bdp.1_Splice_Site_p.G232_splice|NFIB_uc011lmo.2_Splice_Site_p.G206_splice	p.G206_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	4	1152	-			206					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Splice_Site	SNP	ENST00000380959.3	37	c.617_splice	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672890	0.47781	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9365	0.79712	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFIB	14145894	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	7.139000	0.77314	2.164000	0.68074	0.528000	0.53228	.		0.274	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Intron
ADAMTSL1	92949	broad.mit.edu	37	9	18777209	18777209	+	Silent	SNP	C	C	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:18777209C>G	ENST00000380548.4	+	19	3321	c.2982C>G	c.(2980-2982)acC>acG	p.T994T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	994						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCTGCAGACCCACAAACACC	0.687																																						uc003zne.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2980-2982)acC>acG		Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.							21.0	25.0	24.0					9																	18777209		1906	4106	6012	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777209C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2982C>G	9.37:g.18777209C>G							p.T994T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	3134	+			994					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2982C>G	CCDS47954.1																																																																																				0.687	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
ABHD17B	51104	broad.mit.edu	37	9	74485080	74485080	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:74485080A>G	ENST00000333421.6	-	3	677	c.566T>C	c.(565-567)aTt>aCt	p.I189T	ABHD17B_ENST00000377041.2_Missense_Mutation_p.I189T	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	189						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGAATGAAGAATAACAGCAGC	0.423																																						uc004ail.3																			0		p.V188D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						c.(565-567)aTt>aCt		Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.							170.0	154.0	160.0					9																	74485080		2203	4300	6503	SO:0001583	missense	51104					extracellular region	hydrolase activity	g.chr9:74485080A>G	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.566T>C	9.37:g.74485080A>G	ENSP00000330222:p.Ile189Thr					FAM108B1_uc004aim.1_Missense_Mutation_p.I189T	p.I189T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN			2	1168	-			189					A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.566T>C	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313911	0.81358	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51817	0.69;0.69	5.34	5.34	0.76211	.	0.098302	0.64402	D	0.000002	T	0.65984	0.2744	M	0.92367	3.3	0.58432	D	0.999995	P;P	0.50528	0.936;0.768	P;P	0.47705	0.555;0.543	T	0.77094	-0.2715	10	0.87932	D	0	-9.1313	15.6113	0.76721	1.0:0.0:0.0:0.0	.	189;189	Q5VST6;Q5VST6-2	F108B_HUMAN;.	T	189	ENSP00000366240:I189T;ENSP00000330222:I189T	ENSP00000330222:I189T	I	-	2	0	FAM108B1	73674900	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.152000	0.94680	2.151000	0.67156	0.533000	0.62120	ATT		0.423	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014	
TMC1	117531	broad.mit.edu	37	9	75406910	75406910	+	Missense_Mutation	SNP	C	C	T	rs372710475		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:75406910C>T	ENST00000297784.5	+	16	1873	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	TMC1_ENST00000396237.3_Missense_Mutation_p.R445C|TMC1_ENST00000340019.3_Missense_Mutation_p.R445C	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	445					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTACTGGGACGCATTTTTGC	0.393																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1333-1335)Cgc>Tgc		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	252.0	234.0	240.0		1333	5.9	1.0	9		240	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMC1	NM_138691.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	445/761	75406910	1,13005	2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75406910C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1333C>T	9.37:g.75406910C>T	ENSP00000297784:p.Arg445Cys					TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	p.R445C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			15	1873	+			445					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1333C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106694	0.77096	0.0	1.16E-4	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.68181	-0.31;-0.31;-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65140	0.915;0.915;0.932	D	0.84993	0.0895	10	0.87932	D	0	-8.7585	16.5885	0.84745	0.1307:0.8692:0.0:0.0	.	412;412;445	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	C	445;445;412;412;412;439;445	ENSP00000297784:R445C;ENSP00000341433:R445C;ENSP00000379538:R445C	ENSP00000297784:R445C	R	+	1	0	TMC1	74596730	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.924000	0.56476	2.815000	0.96918	0.650000	0.86243	CGC		0.393	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
GRIN3A	116443	broad.mit.edu	37	9	104432454	104432454	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:104432454T>G	ENST00000361820.3	-	3	2840	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	747					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGCCCAAAGGTTCATTAGAAA	0.433																																						uc004bbp.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2239-2241)aAc>aCc		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						90.0	85.0	87.0					9																	104432454		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432454T>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2240A>C	9.37:g.104432454T>G	ENSP00000355155:p.Asn747Thr					GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	p.N747T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	2841	-		Acute lymphoblastic leukemia(62;0.0568)	747					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2240A>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322438	0.60634	.	.	ENSG00000198785	ENST00000361820	T	0.52526	0.66	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64032	-0.6502	10	0.26408	T	0.33	.	15.7635	0.78106	0.0:0.0:0.0:1.0	.	747	Q8TCU5	NMD3A_HUMAN	T	747	ENSP00000355155:N747T	ENSP00000355155:N747T	N	-	2	0	GRIN3A	103472275	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	6.246000	0.72405	2.191000	0.70037	0.473000	0.43528	AAC		0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
MUSK	4593	broad.mit.edu	37	9	113445003	113445003	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:113445003A>T	ENST00000374448.4	+	2	263	c.129A>T	c.(127-129)gaA>gaT	p.E43D	MUSK_ENST00000189978.5_Missense_Mutation_p.E43D|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000416899.2_Missense_Mutation_p.E43D	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	43	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TAGTTGAAGAAGTGGCTACTT	0.378																																						uc022blv.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(127-129)gaA>gaT		Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.							176.0	165.0	168.0					9																	113445003		1874	4112	5986	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113445003A>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.129A>T	9.37:g.113445003A>T	ENSP00000363571:p.Glu43Asp					MUSK_uc022blt.1_Missense_Mutation_p.E43D|MUSK_uc004bez.2_Missense_Mutation_p.E43D|MUSK_uc022blu.1_Missense_Mutation_p.E43D	p.E43D	NM_005592	NP_005583	O15146	MUSK_HUMAN			1	263	+			43			Ig-like 1.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.129A>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953470	0.34471	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.40225	1.04	5.45	-0.883	0.10600	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.194167	0.45126	D	0.000384	T	0.21674	0.0522	L	0.35341	1.055	0.80722	D	1	B;B	0.15473	0.0;0.013	B;B	0.15052	0.004;0.012	T	0.06445	-1.0826	10	0.19147	T	0.46	.	1.7908	0.03051	0.3147:0.1167:0.3599:0.2088	.	43;43	O15146;F5H6T2	MUSK_HUMAN;.	D	43	ENSP00000363571:E43D	ENSP00000189978:E43D	E	+	3	2	MUSK	112484824	0.610000	0.26983	0.997000	0.53966	0.997000	0.91878	-0.229000	0.09098	-0.165000	0.10908	0.455000	0.32223	GAA		0.378	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
COL4A5	1287	broad.mit.edu	37	X	107827754	107827754	+	Splice_Site	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:107827754T>C	ENST00000361603.2	+	18	1275	c.1031T>C	c.(1030-1032)cTt>cCt	p.L344P	COL4A5_ENST00000328300.6_Splice_Site_p.L344P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	344	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGACTTGTAAGTTTT	0.343									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.e18+1		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							56.0	57.0	57.0					X																	107827754		2203	4300	6503	SO:0001630	splice_region_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107827754T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1032+1T>C	X.37:g.107827754T>C						COL4A5_uc004enz.1_Splice_Site_p.L344_splice|COL4A5_uc004eob.1_Splice_Site	p.L344_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN			18	1234	+			344			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1032_splice	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150638	0.21371	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.91124	-2.79;-2.61	4.92	3.73	0.42828	.	0.952842	0.08774	N	0.895825	D	0.82545	0.5060	N	0.12961	0.28	0.49915	D	0.999836	P;P	0.36789	0.57;0.57	B;B	0.38296	0.27;0.27	T	0.71994	-0.4424	10	0.34782	T	0.22	.	7.0454	0.25042	0.1382:0.0:0.2814:0.5804	.	344;344	E7EVY4;P29400	.;CO4A5_HUMAN	P	344	ENSP00000331902:L344P;ENSP00000354505:L344P	ENSP00000331902:L344P	L	+	2	0	COL4A5	107714410	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	1.160000	0.31761	0.761000	0.33130	0.486000	0.48141	CTT		0.343	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		Missense_Mutation
AFF2	2334	broad.mit.edu	37	X	147743983	147743983	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:147743983C>T	ENST00000370460.2	+	3	1214	c.735C>T	c.(733-735)gcC>gcT	p.A245A	AFF2_ENST00000370457.5_Silent_p.A241A|AFF2_ENST00000342251.3_Silent_p.A241A|AFF2_ENST00000370458.1_Silent_p.A241A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	245					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAATTCGCCGTGCAAGCGC	0.458																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(733-735)gcC>gcT		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							125.0	134.0	131.0					X																	147743983		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743983C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.735C>T	X.37:g.147743983C>T						AFF2_uc004fco.3_Silent_p.A241A|AFF2_uc004fcq.3_Silent_p.A241A|AFF2_uc004fcr.3_Silent_p.A241A|AFF2_uc011mxb.2_Silent_p.A245A|AFF2_uc004fcs.3_Silent_p.A241A	p.A245A	NM_002025	NP_002016	P51816	AFF2_HUMAN			2	1214	+	Acute lymphoblastic leukemia(192;6.56e-05)		245					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.735C>T	CCDS14684.1																																																																																				0.458	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MAGEA12	4111	broad.mit.edu	37	X	151900520	151900520	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:151900520C>A	ENST00000357916.4	-	2	436	c.281G>T	c.(280-282)gGg>gTg	p.G94V	MAGEA12_ENST00000393900.3_Missense_Mutation_p.G94V|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.G94V|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	94										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCTTCCTGTTC	0.547																																						uc022chj.1																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(280-282)gGg>gTg		Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.							139.0	116.0	124.0					X																	151900520		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900520C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.281G>T	X.37:g.151900520C>A	ENSP00000350592:p.Gly94Val					MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G94V|MAGEA12_uc022chi.1_Missense_Mutation_p.G94V|MAGEA12_uc004fgc.3_Missense_Mutation_p.G94V|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	p.G94V	NM_005367	NP_005358	P43365	MAGAC_HUMAN			0	281	-	Acute lymphoblastic leukemia(192;6.56e-05)		94					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.281G>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364470	0.24684	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04706	3.57;3.57;3.57	0.898	0.898	0.19264	Melanoma associated antigen, MAGE, N-terminal (1);	0.987708	0.08280	N	0.970047	T	0.22322	0.0538	M	0.87547	2.89	0.19575	N	0.999966	D	0.89917	1.0	D	0.81914	0.995	T	0.06607	-1.0817	9	0.49607	T	0.09	.	.	.	.	.	94	P43365	MAGAC_HUMAN	V	94	ENSP00000350592:G94V;ENSP00000377447:G94V;ENSP00000377478:G94V	ENSP00000350592:G94V	G	-	2	0	MAGEA12	151651176	0.000000	0.05858	0.004000	0.12327	0.057000	0.15508	-0.501000	0.06398	0.697000	0.31718	0.179000	0.17066	GGG		0.547	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
ARHGAP4	393	broad.mit.edu	37	X	153184317	153184317	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:153184317C>T	ENST00000350060.5	-	7	1042	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R374H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R311H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R313H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	334					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTCAAAGCGCAGCGGGGG	0.617																																						uc004fjk.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1000-1002)cGc>cAc		Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.							94.0	93.0	93.0					X																	153184317		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184317C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1001G>A	X.37:g.153184317C>T	ENSP00000203786:p.Arg334His					ARHGAP4_uc011mzf.2_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.2_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.2_Non-coding_Transcript	p.R334H	NM_001666	NP_001657	P98171	RHG04_HUMAN			6	1059	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		334					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1001G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829727	0.71258	.	.	ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;2.54	4.89	4.89	0.63831	.	0.000000	0.42821	D	0.000644	T	0.57961	0.2089	M	0.69358	2.11	0.50632	D	0.999883	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.56517	-0.7966	10	0.35671	T	0.21	.	9.999	0.41918	0.0:0.9013:0.0:0.0987	.	374;334	Q86UY3;P98171	.;RHG04_HUMAN	H	374;334;313;311;109	ENSP00000359045:R374H;ENSP00000203786:R334H;ENSP00000359033:R313H;ENSP00000444169:R311H;ENSP00000398019:R109H	ENSP00000203786:R334H	R	-	2	0	ARHGAP4	152837511	0.159000	0.22864	0.850000	0.33497	0.428000	0.31595	1.459000	0.35234	2.155000	0.67459	0.525000	0.51046	CGC		0.617	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666	
