#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NUP153	9972	broad.mit.edu	37	6	17637615	17637615	+	Missense_Mutation	SNP	A	A	C	rs564828480		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:17637615A>C	ENST00000262077.2	-	16	2232	c.2233T>G	c.(2233-2235)Tgt>Ggt	p.C745G	NUP153_ENST00000537253.1_Missense_Mutation_p.C776G	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	745					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTTTCACAGGCTACACAT	0.443																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2233-2235)Tgt>Ggt		nucleoporin 153kDa							190.0	186.0	187.0					6																	17637615		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17637615A>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2233T>G	6.37:g.17637615A>C	ENSP00000262077:p.Cys745Gly					NUP153_ENST00000537253.1_Missense_Mutation_p.C776G	p.C745G	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		16	2232	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	745					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.2233T>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244339	0.79912	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	D;D	0.99795	-6.78;-6.78	6.11	6.11	0.99139	Zinc finger, RanBP2-type (4);	0.000000	0.56097	D	0.000021	D	0.99871	0.9939	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96468	0.9346	10	0.87932	D	0	-14.3692	16.7021	0.85357	1.0:0.0:0.0:0.0	.	776;725;745	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	G	745;725;776	ENSP00000262077:C745G;ENSP00000444029:C776G	ENSP00000262077:C745G	C	-	1	0	NUP153	17745594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.343000	0.79666	0.533000	0.62120	TGT		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			42	116	0	0	0	1	0	42	116				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	137	0	0	0	1	0	4	137				
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs71815788|rs55736770	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)caA>caG		TATA box binding protein							12.0	14.0	13.0					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871040A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.216A>G	6.37:g.170871040A>G						TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	72			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.216A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	79	0	0	0	1	0	4	79				
TP53	7157	broad.mit.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:7577565T>C	ENST00000269305.4	-	7	905	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N239S|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000420246.2_Missense_Mutation_p.N239S|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> 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.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(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)	GCAGGAACTGTTACACATGTA	0.572		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)	ENST00000420246.2		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"""		76	Substitution - Missense(36)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(1)	biliary_tract(10)|urinary_tract(6)|lung(6)|ovary(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|breast(5)|bone(5)|central_nervous_system(4)|large_intestine(4)|endometrium(4)|kidney(4)|stomach(3)|thyroid(1)|soft_tissue(1)|liver(1)|pancreas(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						c.(715-717)aAc>aGc	Other conserved DNA damage response genes	tumor protein p53							135.0	105.0	115.0					17																	7577565		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.chr17:7577565T>C	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.716A>G	17.37:g.7577565T>C	ENSP00000269305:p.Asn239Ser	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_ENST00000269305.4_Missense_Mutation_p.N239S|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S	p.N239S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	848	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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.716A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565663	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.62	4.62	0.57501	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	0.99736	0.9896	M	0.87381	2.88	0.58432	D	0.999991	D;B;D;D;D;D	0.89917	0.988;0.31;0.999;0.98;0.99;1.0	P;B;D;P;P;D	0.87578	0.826;0.104;0.981;0.815;0.891;0.998	D	0.97237	0.9888	10	0.87932	D	0	-35.9081	12.3101	0.54924	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239S;ENSP00000352610:N239S;ENSP00000269305:N239S;ENSP00000398846:N239S;ENSP00000391127:N239S;ENSP00000391478:N239S;ENSP00000425104:N107S;ENSP00000423862:N146S	ENSP00000269305:N239S	N	-	2	0	TP53	7518290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		59	4	0	0	0	1	0	59	4				
ZNF518B	85460	broad.mit.edu	37	4	10445064	10445064	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:10445064T>C	ENST00000326756.3	-	3	3327	c.2889A>G	c.(2887-2889)atA>atG	p.I963M		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	963					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGTATTTATTTATTACCTTCA	0.458																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2887-2889)atA>atG		zinc finger protein 518B							100.0	98.0	99.0					4																	10445064		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445064T>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2889A>G	4.37:g.10445064T>C	ENSP00000317614:p.Ile963Met						p.I963M	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3327	-			963					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2889A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624444	0.66901	.	.	ENSG00000178163	ENST00000326756	T	0.03065	4.06	6.16	0.0422	0.14216	.	0.114878	0.56097	D	0.000021	T	0.15739	0.0379	L	0.57536	1.79	0.28282	N	0.923941	D	0.76494	0.999	D	0.71184	0.972	T	0.31024	-0.9958	10	0.87932	D	0	-24.8403	22.8508	0.99977	0.0:0.0:0.865:0.135	.	963	Q9C0D4	Z518B_HUMAN	M	963	ENSP00000317614:I963M	ENSP00000317614:I963M	I	-	3	3	ZNF518B	10054162	0.291000	0.24352	0.983000	0.44433	0.992000	0.81027	-0.546000	0.06062	-0.023000	0.13963	0.528000	0.53228	ATA		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		4	77	0	0	0	1	0	4	77				
PTPRF	5792	broad.mit.edu	37	1	44057543	44057543	+	Nonsense_Mutation	SNP	C	C	A	rs200072533		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:44057543C>A	ENST00000359947.4	+	10	1932	c.1592C>A	c.(1591-1593)tCg>tAg	p.S531*	PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S531*|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S531*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	531	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCAGCTCTCGTGGCTGCTG	0.632																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1591-1593)tCg>tAg		protein tyrosine phosphatase, receptor type, F							39.0	35.0	36.0					1																	44057543		2203	4300	6503	SO:0001587	stop_gained	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44057543C>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1592C>A	1.37:g.44057543C>A	ENSP00000353030:p.Ser531*					PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame	p.S531*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			10	1932	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	531			Fibronectin type-III 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	ENST00000359947.4	37	c.1592C>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.819626|5.819626	0.96982|0.96982	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.30060	.|N	.|0.010506	T|.	0.47135|.	0.1429|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34403|.	-0.9830|.	4|.	.|0.02654	.|T	.|1	.|.	19.0931|19.0931	0.93235|0.93235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	188|531	.|.	.|ENSP00000353030:S531X	R|S	+|+	1|2	0|0	PTPRF|PTPRF	43830130|43830130	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.965000|0.965000	0.64279|0.64279	7.781000|7.781000	0.85668|0.85668	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	CGT|TCG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			36	37	1	0	3.33393e-15	1	3.70437e-15	36	37				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	38	0	0	0	1	0	3	38				
CRLF1	9244	broad.mit.edu	37	19	18707437	18707437	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr19:18707437C>T	ENST00000392386.3	-	6	1212	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CRLF1_ENST00000594325.1_5'Flank	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	340	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in CISS1). {ECO:0000269|PubMed:24488861}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCACCACTGCGGGGAGTGGA	0.552																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1018-1020)cGc>cAc		cytokine receptor-like factor 1							21.0	25.0	24.0					19																	18707437		2201	4299	6500	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18707437C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1019G>A	19.37:g.18707437C>T	ENSP00000376188:p.Arg340His						p.R340H	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			6	1212	-			340					Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.1019G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844209	0.32606	.	.	ENSG00000006016	ENST00000392386	T	0.81247	-1.47	4.98	4.98	0.66077	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.184484	0.26560	N	0.023697	T	0.57681	0.2070	N	0.01576	-0.805	0.31506	N	0.664169	B	0.16166	0.016	B	0.06405	0.002	T	0.56956	-0.7893	10	0.25751	T	0.34	-40.9263	16.1059	0.81220	0.0:1.0:0.0:0.0	.	340	O75462	CRLF1_HUMAN	H	340	ENSP00000376188:R340H	ENSP00000376188:R340H	R	-	2	0	CRLF1	18568437	0.883000	0.30277	0.978000	0.43139	0.876000	0.50452	2.358000	0.44134	2.501000	0.84356	0.555000	0.69702	CGC		0.552	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			13	32	0	0	0	1	0	13	32				
LPHN3	23284	broad.mit.edu	37	4	62845387	62845387	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:62845387G>A	ENST00000514591.1	+	17	3037	c.2708G>A	c.(2707-2709)cGg>cAg	p.R903Q	LPHN3_ENST00000506720.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R903Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	890					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCTTTTTCCGGGGGCTCCAG	0.493																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2707-2709)cGg>cAg		latrophilin 3							227.0	228.0	227.0					4																	62845387		2036	4209	6245	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845387G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2708G>A	4.37:g.62845387G>A	ENSP00000422533:p.Arg903Gln					LPHN3_ENST00000514157.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903Q	p.R903Q			Q9HAR2	LPHN3_HUMAN			17	3455	+			890					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2708G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502636	0.96371	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	M	0.87827	2.91	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.99	T	0.81441	-0.0931	10	0.87932	D	0	.	19.0068	0.92854	0.0:0.0:1.0:0.0	.	903;890;903	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Q	903;903;971;971;903;903;890;903;971;971;971;903;903;903;971;971;903	ENSP00000423388:R903Q;ENSP00000422533:R903Q;ENSP00000423787:R971Q;ENSP00000425033:R971Q;ENSP00000424120:R903Q;ENSP00000439831:R903Q;ENSP00000421476:R971Q;ENSP00000424030:R971Q;ENSP00000421372:R971Q;ENSP00000425201:R903Q;ENSP00000423434:R903Q;ENSP00000421627:R903Q;ENSP00000420931:R971Q;ENSP00000425884:R971Q;ENSP00000424258:R903Q	ENSP00000280009:R903Q	R	+	2	0	LPHN3	62527982	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	7.956000	0.87863	2.580000	0.87095	0.467000	0.42956	CGG		0.493	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			76	75	0	0	0	1	0	76	75				
OR4C12	283093	broad.mit.edu	37	11	50003749	50003749	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:50003749C>A	ENST00000335238.4	-	1	322	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAGGCTTGAGCCATACACCCA	0.423																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(289-291)Gct>Tct		olfactory receptor, family 4, subfamily C, member 12							123.0	122.0	122.0					11																	50003749		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003749C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.289G>T	11.37:g.50003749C>A	ENSP00000334418:p.Ala97Ser						p.A97S	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	322	-			97					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.289G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.955548	0.34471	.	.	ENSG00000221954	ENST00000335238	T	0.01359	4.98	3.31	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.343346	0.20750	U	0.086366	T	0.01092	0.0036	N	0.21097	0.63	0.24368	N	0.994842	B	0.12013	0.005	B	0.12156	0.007	T	0.45101	-0.9284	10	0.41790	T	0.15	.	7.3395	0.26630	0.0:0.3029:0.0:0.6971	.	97	Q96R67	OR4CC_HUMAN	S	97	ENSP00000334418:A97S	ENSP00000334418:A97S	A	-	1	0	OR4C12	49960325	0.000000	0.05858	0.975000	0.42487	0.968000	0.65278	-0.237000	0.08990	-0.086000	0.12550	0.398000	0.26397	GCT		0.423	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		32	83	1	0	3.99451e-17	1	4.49382e-17	32	83				
NRG1	3084	broad.mit.edu	37	8	32616940	32616940	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:32616940G>T	ENST00000405005.3	+	10	1047	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	NRG1_ENST00000287842.3_Missense_Mutation_p.Q346H|NRG1_ENST00000356819.4_Missense_Mutation_p.Q354H|NRG1_ENST00000338921.4_Missense_Mutation_p.Q357H|NRG1_ENST00000539990.1_Missense_Mutation_p.Q192H|NRG1_ENST00000519301.1_Missense_Mutation_p.Q299H|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_Missense_Mutation_p.Q349H|NRG1_ENST00000523079.1_Missense_Mutation_p.Q346H|NRG1_ENST00000287845.5_Missense_Mutation_p.Q320H			Q02297	NRG1_HUMAN	neuregulin 1	349					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTCACCCAGACTCCTAGCC	0.448																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1069-1071)caG>caT		neuregulin 1							108.0	95.0	100.0					8																	32616940		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32616940G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1047G>T	8.37:g.32616940G>T	ENSP00000384620:p.Gln349His					NRG1_ENST00000521670.1_Missense_Mutation_p.Q349H|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.Q349H|NRG1_ENST00000287845.5_Missense_Mutation_p.Q320H|NRG1_ENST00000287840.5_Missense_Mutation_p.Q349H|NRG1_ENST00000287842.3_Missense_Mutation_p.Q346H|NRG1_ENST00000539990.1_Missense_Mutation_p.Q192H|NRG1_ENST00000519301.1_Missense_Mutation_p.Q299H|NRG1_ENST00000523079.1_Missense_Mutation_p.Q346H|NRG1_ENST00000356819.4_Missense_Mutation_p.Q354H	p.Q357H			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	11	1588	+		Breast(100;0.203)	349					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1071G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598515	0.28445	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	6.16	5.29	0.74685	Neuregulin 1-related, C-terminal (1);	0.114155	0.64402	D	0.000011	T	0.56277	0.1974	N	0.11927	0.2	0.54753	D	0.999981	D;B;B;B;B;B;B;B;B;B;B	0.67145	0.996;0.085;0.211;0.019;0.024;0.211;0.002;0.01;0.03;0.019;0.285	D;B;B;B;B;B;B;B;B;B;B	0.85130	0.997;0.147;0.147;0.03;0.05;0.147;0.003;0.03;0.075;0.03;0.155	T	0.55082	-0.8196	10	0.22109	T	0.4	-0.0215	11.4983	0.50422	0.1363:0.0:0.8637:0.0	.	192;195;346;320;354;345;357;346;349;354;349	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	H	316;299;422;346;357;354;349;320;346;349;349;192	ENSP00000430053:Q316H;ENSP00000429582:Q299H;ENSP00000429067:Q422H;ENSP00000430120:Q346H;ENSP00000343395:Q357H;ENSP00000349275:Q354H;ENSP00000287840:Q349H;ENSP00000287845:Q320H;ENSP00000287842:Q346H;ENSP00000384620:Q349H;ENSP00000428828:Q349H;ENSP00000439276:Q192H	ENSP00000287840:Q349H	Q	+	3	2	NRG1	32736482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.191000	0.42640	1.617000	0.50277	0.650000	0.86243	CAG		0.448	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			20	66	1	0	9.7654e-05	1	0.000102196	20	66				
TRPC1	7220	broad.mit.edu	37	3	142443429	142443429	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:142443429G>T	ENST00000476941.1	+	1	514	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D10Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	10					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCCGAGCACGGACCTCTCGGG	0.716																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(28-30)Gac>Tac		transient receptor potential cation channel, subfamily C, member 1							40.0	38.0	38.0					3																	142443429		2200	4298	6498	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142443429G>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.28G>T	3.37:g.142443429G>T	ENSP00000419313:p.Asp10Tyr					TRPC1_ENST00000476941.1_Missense_Mutation_p.D10Y	p.D10Y	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			1	419	+			10					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.28G>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259029	0.80246	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79653	-0.95;-1.29	4.17	3.27	0.37495	.	16.793400	0.00166	N	0.000000	T	0.79828	0.4513	N	0.08118	0	0.80722	D	1	D;D	0.55172	0.97;0.969	P;P	0.57548	0.67;0.823	T	0.66968	-0.5789	10	0.72032	D	0.01	0.0115	11.7461	0.51821	0.0:0.0:0.823:0.177	.	10;10	P48995;P48995-2	TRPC1_HUMAN;.	Y	10	ENSP00000419313:D10Y;ENSP00000273482:D10Y	ENSP00000273482:D10Y	D	+	1	0	TRPC1	143926119	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	6.058000	0.71126	0.841000	0.35020	0.430000	0.28490	GAC		0.716	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		9	21	1	0	0.0477658	1	0.0477658	9	21				
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512																																						ENST00000267101.3																			1	Substitution - Missense(1)	p.D297Y(1)	breast(1)	central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(889-891)Gat>Tat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							214.0	207.0	209.0					12																	56482341		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482341G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.889G>T	12.37:g.56482341G>T	ENSP00000267101:p.Asp297Tyr					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y	p.D297Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1329	+			297					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.889G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070538	0.76301	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84516	-1.86;-1.86	5.2	5.2	0.72013	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000003	D	0.90659	0.7070	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91282	0.5052	10	0.87932	D	0	.	17.6771	0.88233	0.0:0.0:1.0:0.0	.	297	P21860	ERBB3_HUMAN	Y	297;297;238	ENSP00000267101:D297Y;ENSP00000408340:D238Y	ENSP00000267101:D297Y	D	+	1	0	ERBB3	54768608	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.173000	0.94815	2.706000	0.92434	0.563000	0.77884	GAT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			76	191	1	0	5.94106e-25	1	6.7683e-25	76	191				
ACADS	35	broad.mit.edu	37	12	121174898	121174898	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:121174898G>A	ENST00000242592.4	+	3	471	c.320G>A	c.(319-321)cGt>cAt	p.R107H	ACADS_ENST00000411593.2_Missense_Mutation_p.R107H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	107			R -> C (in ACADSD).		butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GAGATCAGCCGTGGCTGCGCC	0.672																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(319-321)cGt>cAt		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						32.0	31.0	31.0					12																	121174898		2199	4300	6499	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121174898G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.320G>A	12.37:g.121174898G>A	ENSP00000242592:p.Arg107His					ACADS_ENST00000411593.2_Missense_Mutation_p.R107H	p.R107H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			3	471	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	107		R -> C (in ACADSD).			P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.320G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289062	0.95517	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99816	-6.91;-6.91	4.86	4.86	0.63082	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.968;0.968	D	0.96215	0.9156	10	0.87932	D	0	.	18.3462	0.90322	0.0:0.0:1.0:0.0	.	107;107;107	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	107	ENSP00000242592:R107H;ENSP00000401045:R107H	ENSP00000242592:R107H	R	+	2	0	ACADS	119659281	1.000000	0.71417	0.993000	0.49108	0.802000	0.45316	9.672000	0.98629	2.381000	0.81170	0.563000	0.77884	CGT		0.672	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		3	1	0	0	0	1	0	3	1				
NPY2R	4887	broad.mit.edu	37	4	156135433	156135433	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:156135433G>A	ENST00000329476.3	+	2	831	c.342G>A	c.(340-342)ggG>ggA	p.G114G	NPY2R_ENST00000506608.1_Silent_p.G114G	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	114					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCTTAATGGGGGAGTGGAAAA	0.507																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(340-342)ggG>ggA		neuropeptide Y receptor Y2							70.0	71.0	71.0					4																	156135433		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135433G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.342G>A	4.37:g.156135433G>A						NPY2R_ENST00000506608.1_Silent_p.G114G	p.G114G	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	831	+	all_hematologic(180;0.24)	Renal(120;0.0854)	114					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.342G>A	CCDS3791.1																																																																																				0.507	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		20	19	0	0	0	1	0	20	19				
IL1R2	7850	broad.mit.edu	37	2	102632493	102632493	+	Missense_Mutation	SNP	G	G	C	rs529315850		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:102632493G>C	ENST00000332549.3	+	4	722	c.493G>C	c.(493-495)Gtg>Ctg	p.V165L	IL1R2_ENST00000393414.2_Missense_Mutation_p.V165L|IL1R2_ENST00000441002.1_Missense_Mutation_p.V165L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CAAAACTGACGTGAAGATTCA	0.373																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(493-495)Gtg>Ctg		interleukin 1 receptor, type II	Anakinra(DB00026)						62.0	59.0	60.0					2																	102632493		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102632493G>C	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.493G>C	2.37:g.102632493G>C	ENSP00000330959:p.Val165Leu					IL1R2_ENST00000441002.1_Missense_Mutation_p.V165L|IL1R2_ENST00000393414.2_Missense_Mutation_p.V165L	p.V165L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			4	722	+			165			Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.493G>C	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907653	0.17833	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.53	-11.1	0.00147	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.398540	0.04271	N	0.342070	T	0.49643	0.1569	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35276	-0.9795	10	0.10902	T	0.67	.	2.4708	0.04564	0.2547:0.3935:0.1081:0.2437	.	165	P27930	IL1R2_HUMAN	L	165	ENSP00000330959:V165L;ENSP00000377066:V165L;ENSP00000408415:V165L;ENSP00000414611:V165L	ENSP00000330959:V165L	V	+	1	0	IL1R2	101998925	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-2.840000	0.00738	-2.238000	0.00712	-0.165000	0.13383	GTG		0.373	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		11	40	0	0	0	1	0	11	40				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	74	0	0	0	1	0	5	74				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	36	0	0	0	1	0	13	36				
SYBU	55638	broad.mit.edu	37	8	110590123	110590123	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:110590123C>T	ENST00000422135.1	-	7	1373	c.858G>A	c.(856-858)aaG>aaA	p.K286K	SYBU_ENST00000276646.9_Silent_p.K286K|SYBU_ENST00000529690.1_Silent_p.K156K|SYBU_ENST00000528331.1_Silent_p.K167K|SYBU_ENST00000528647.1_Silent_p.K285K|SYBU_ENST00000399066.3_Silent_p.K283K|SYBU_ENST00000419099.1_Silent_p.K285K|SYBU_ENST00000408889.3_Silent_p.K167K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000532779.1_Silent_p.K218K|SYBU_ENST00000424158.2_Silent_p.K291K|SYBU_ENST00000440310.1_Silent_p.K286K|SYBU_ENST00000533171.1_Silent_p.K286K|SYBU_ENST00000533895.1_Silent_p.K285K|SYBU_ENST00000408908.2_Silent_p.K286K|SYBU_ENST00000446070.2_Silent_p.K285K|SYBU_ENST00000533065.1_Silent_p.K167K|SYBU_ENST00000433638.1_Silent_p.K286K|SYBU_ENST00000529175.1_Silent_p.K80K	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	286	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTCAGATTCCTTCAGCTTGG	0.478																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(847-849)aaG>aaA		syntabulin (syntaxin-interacting)							181.0	178.0	179.0					8																	110590123		2016	4190	6206	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110590123C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.858G>A	8.37:g.110590123C>T						SYBU_ENST00000532779.1_Silent_p.K218K|SYBU_ENST00000529690.1_Silent_p.K156K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000424158.2_Silent_p.K291K|SYBU_ENST00000433638.1_Silent_p.K286K|SYBU_ENST00000408908.2_Silent_p.K286K|SYBU_ENST00000440310.1_Silent_p.K286K|SYBU_ENST00000528331.1_Silent_p.K167K|SYBU_ENST00000408889.3_Silent_p.K167K|SYBU_ENST00000533895.1_Silent_p.K285K|SYBU_ENST00000533065.1_Silent_p.K167K|SYBU_ENST00000446070.2_Silent_p.K285K|SYBU_ENST00000533171.1_Silent_p.K286K|SYBU_ENST00000276646.9_Silent_p.K286K|SYBU_ENST00000529175.1_Silent_p.K80K|SYBU_ENST00000528647.1_Silent_p.K285K|SYBU_ENST00000422135.1_Silent_p.K286K|SYBU_ENST00000419099.1_Silent_p.K285K	p.K283K	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			5	1576	-			286			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.849G>A	CCDS47912.1																																																																																				0.478	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		48	122	0	0	0	1	0	48	122				
GPRC5D	55507	broad.mit.edu	37	12	13103268	13103268	+	Silent	SNP	G	G	A	rs183273006		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:13103268G>A	ENST00000228887.1	-	1	50	c.51C>T	c.(49-51)gaC>gaT	p.D17D	RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.D17D|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCCCCTCGGCGTCACAGAGAA	0.507																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(49-51)gaC>gaT		G protein-coupled receptor, family C, group 5, member D							100.0	94.0	96.0					12																	13103268		2203	4300	6503	SO:0001819	synonymous_variant	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13103268G>A	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.51C>T	12.37:g.13103268G>A						GPRC5D_ENST00000396333.3_Silent_p.D17D|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA	p.D17D	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	50	-		Prostate(47;0.183)	17					Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	c.51C>T	CCDS8658.1																																																																																				0.507	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			33	95	0	0	0	1	0	33	95				
FAM161B	145483	broad.mit.edu	37	14	74407730	74407730	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr14:74407730G>A	ENST00000534936.1	-	5	1404	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	FAM161B_ENST00000286544.3_Silent_p.P496P|RP5-1021I20.5_ENST00000555916.1_RNA			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	433										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCCTTGGCAGGGGTGTAGCTG	0.478																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1486-1488)ccC>ccT		family with sequence similarity 161, member B							113.0	102.0	106.0					14																	74407730		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74407730G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1299C>T	14.37:g.74407730G>A						FAM161B_ENST00000534936.1_Silent_p.P433P	p.P496P	NM_152445.2	NP_689658.2					5	1686	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.1488C>T																																																																																					0.478	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		24	73	0	0	0	1	0	24	73				
SLC7A13	157724	broad.mit.edu	37	8	87229900	87229900	+	Silent	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:87229900T>G	ENST00000297524.3	-	3	1081	c.978A>C	c.(976-978)ctA>ctC	p.L326L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.L317L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	326						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTGTATTAAATAGCAAAGGCA	0.358																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(976-978)ctA>ctC		solute carrier family 7 (anionic amino acid transporter), member 13							89.0	100.0	96.0					8																	87229900		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229900T>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.978A>C	8.37:g.87229900T>G						SLC7A13_ENST00000419776.2_Silent_p.L317L|SLC7A13_ENST00000520624.1_5'UTR	p.L326L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1081	-			326					Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.978A>C	CCDS34917.1																																																																																				0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		6	146	0	0	0	1	0	6	146				
MUC5B	727897	broad.mit.edu	37	11	1268462	1268462	+	Missense_Mutation	SNP	C	C	T	rs201116040	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:1268462C>T	ENST00000529681.1	+	31	10410	c.10352C>T	c.(10351-10353)aCg>aTg	p.T3451M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3454M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3451	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAACACCACGGCCACCACA	0.687													-|||	17	0.00339457	0.0098	0.0	5008	,	,		21241	0.002		0.0	False		,,,				2504	0.002					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10360-10362)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	15,4225		0,15,2105	69.0	104.0	92.0		10352	-4.6	0.0	11		92	0,8432		0,0,4216	no	missense	MUC5B	NM_002458.2	81	0,15,6321	TT,TC,CC		0.0,0.3538,0.1184	benign	3451/5763	1268462	15,12657	2120	4216	6336	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268462C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10352C>T	11.37:g.1268462C>T	ENSP00000436812:p.Thr3451Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.T3451M|RP11-532E4.2_ENST00000532061.2_RNA	p.T3454M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10419	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3451	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10361C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.141	-0.649408	0.03506	0.003538	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.26	2.31	-4.63	0.03359	.	.	.	.	.	T	0.12220	0.0297	L	0.46157	1.445	0.09310	N	1	P;B	0.44429	0.835;0.141	B;B	0.36608	0.229;0.007	T	0.02567	-1.1140	9	0.87932	D	0	.	0.588	0.00723	0.3699:0.2126:0.2262:0.1913	.	3979;3454	A7Y9J9;E9PBJ0	.;.	M	3451;3454;3423;3356	ENSP00000436812:T3451M;ENSP00000415793:T3454M	ENSP00000343037:T3423M	T	+	2	0	MUC5B	1225038	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.343000	0.19944	-2.380000	0.00594	-0.698000	0.03680	ACG		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	55	0	0	0	1	0	11	55				
DEFB112	245915	broad.mit.edu	37	6	50011295	50011295	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:50011295C>T	ENST00000322246.4	-	2	334	c.335G>A	c.(334-336)cGt>cAt	p.R112H		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	112					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTCAATGACGTGAGTCTTT	0.403																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(334-336)cGt>cAt		defensin, beta 112							91.0	78.0	83.0					6																	50011295		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011295C>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.335G>A	6.37:g.50011295C>T	ENSP00000319126:p.Arg112His						p.R112H	NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN			2	334	-	Lung NSC(77;0.042)		112					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.335G>A	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	C	4.988	0.183551	0.09495	.	.	ENSG00000180872	ENST00000322246	.	.	.	1.47	-1.84	0.07809	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	8	0.21540	T	0.41	8.8214	2.6867	0.05109	0.0:0.3633:0.2581:0.3787	.	112	Q30KQ8	DB112_HUMAN	H	112	.	ENSP00000319126:R112H	R	-	2	0	DEFB112	50119254	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.238000	0.08977	-0.657000	0.05373	-0.242000	0.12053	CGT		0.403	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		10	15	0	0	0	1	0	10	15				
TMEM173	340061	broad.mit.edu	37	5	138860776	138860776	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:138860776A>T	ENST00000330794.4	-	4	712	c.379T>A	c.(379-381)Tcg>Acg	p.S127T	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	127					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGCCTGCGAGAGGCCCAGG	0.622																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(379-381)Tcg>Acg		transmembrane protein 173							64.0	67.0	66.0					5																	138860776		2203	4300	6503	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860776A>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.379T>A	5.37:g.138860776A>T	ENSP00000331288:p.Ser127Thr					TMEM173_ENST00000511850.1_5'UTR	p.S127T	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	712	-			127					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.379T>A	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761200	0.15914	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.22945	1.93;1.93	5.58	4.37	0.52481	.	0.653916	0.15490	N	0.259620	T	0.17831	0.0428	L	0.48362	1.52	0.23356	N	0.997847	P	0.37276	0.589	B	0.30316	0.114	T	0.10847	-1.0612	10	0.08381	T	0.77	-3.2247	11.2383	0.48953	0.8474:0.1526:0.0:0.0	.	127	Q86WV6	TM173_HUMAN	T	127	ENSP00000331288:S127T;ENSP00000427455:S127T	ENSP00000331288:S127T	S	-	1	0	TMEM173	138840960	0.566000	0.26618	0.865000	0.33974	0.005000	0.04900	2.084000	0.41625	2.120000	0.65058	0.459000	0.35465	TCG		0.622	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		36	42	0	0	0	1	0	36	42				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	79	0	0	0	1	0	4	79				
PDIA4	9601	broad.mit.edu	37	7	148701262	148701262	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148701262T>G	ENST00000286091.4	-	10	1794	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	521	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTGTTGTTCTTGGGCACTGG	0.562																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1561-1563)aAg>aCg		protein disulfide isomerase family A, member 4							153.0	143.0	146.0					7																	148701262		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701262T>G	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1562A>C	7.37:g.148701262T>G	ENSP00000286091:p.Lys521Thr						p.K521T	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	1794	-	Melanoma(164;0.15)		521			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1562A>C	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272202	0.80469	.	.	ENSG00000155660	ENST00000286091	T	0.14516	2.5	5.8	3.35	0.38373	Thioredoxin-like fold (3);	0.044623	0.85682	D	0.000000	T	0.20373	0.0490	L	0.28344	0.845	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.01432	-1.1356	10	0.48119	T	0.1	.	8.5649	0.33534	0.0:0.0674:0.1305:0.8021	.	521	P13667	PDIA4_HUMAN	T	521	ENSP00000286091:K521T	ENSP00000286091:K521T	K	-	2	0	PDIA4	148332195	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.763000	0.62257	1.034000	0.39945	0.528000	0.53228	AAG		0.562	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		5	174	0	0	0	1	0	5	174				
CDK5RAP2	55755	broad.mit.edu	37	9	123169430	123169430	+	Missense_Mutation	SNP	C	C	T	rs199902405		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:123169430C>T	ENST00000349780.4	-	32	5002	c.4823G>A	c.(4822-4824)aGc>aAc	p.S1608N	CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1576N|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1567N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1608					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GGTTTCGATGCTCCTTTCTAG	0.602																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(4822-4824)aGc>aAc		CDK5 regulatory subunit associated protein 2							103.0	84.0	90.0					9																	123169430		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123169430C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4823G>A	9.37:g.123169430C>T	ENSP00000343818:p.Ser1608Asn					CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1567N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1576N|CDK5RAP2_ENST00000360190.4_Intron	p.S1608N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			32	5002	-			1608					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4823G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969955	0.53614	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.51817	2.53;2.51;2.51;1.26;0.69	5.44	4.53	0.55603	.	0.097482	0.45867	D	0.000329	T	0.66479	0.2793	M	0.78637	2.42	0.27074	N	0.963257	D;D;D;D	0.76494	0.989;0.999;0.998;0.996	P;D;P;P	0.63283	0.801;0.913;0.82;0.876	T	0.64441	-0.6407	10	0.72032	D	0.01	.	14.1548	0.65410	0.0:0.8498:0.1501:0.0	.	618;1576;1608;1002	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	N	1576;1567;1608;1002;618;1380	ENSP00000354065:S1576N;ENSP00000352258:S1567N;ENSP00000343818:S1608N;ENSP00000400395:S1002N;ENSP00000409941:S618N	ENSP00000341695:S1380N	S	-	2	0	CDK5RAP2	122209251	1.000000	0.71417	0.979000	0.43373	0.167000	0.22549	5.992000	0.70609	1.268000	0.44264	0.655000	0.94253	AGC		0.602	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		25	38	0	0	0	1	0	25	38				
PDIA4	9601	broad.mit.edu	37	7	148702238	148702238	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148702238T>C	ENST00000286091.4	-	9	1749	c.1517A>G	c.(1516-1518)aAa>aGa	p.K506R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	506	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCACCTTTTTTGAAAGCAGT	0.607																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1516-1518)aAa>aGa		protein disulfide isomerase family A, member 4							112.0	112.0	112.0					7																	148702238		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702238T>C	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1517A>G	7.37:g.148702238T>C	ENSP00000286091:p.Lys506Arg						p.K506R	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1749	-	Melanoma(164;0.15)		506			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1517A>G	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211391	0.39102	.	.	ENSG00000155660	ENST00000286091	T	0.18657	2.2	5.57	5.57	0.84162	Thioredoxin-like fold (3);	0.043393	0.85682	D	0.000000	T	0.16642	0.0400	N	0.25380	0.74	0.80722	D	1	B	0.29646	0.253	B	0.29267	0.1	T	0.07214	-1.0784	10	0.23302	T	0.38	.	15.7239	0.77736	0.0:0.0:0.0:1.0	.	506	P13667	PDIA4_HUMAN	R	506	ENSP00000286091:K506R	ENSP00000286091:K506R	K	-	2	0	PDIA4	148333171	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.756000	0.85195	2.116000	0.64780	0.533000	0.62120	AAA		0.607	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		62	162	0	0	0	1	0	62	162				
SSPO	23145	broad.mit.edu	37	7	149497429	149497429	+	RNA	SNP	C	C	T	rs376922559	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:149497429C>T	ENST00000378016.2	+	0	7187							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCAGACGCCCTGTGAG	0.687													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16791	0.001		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		C		3,4305		0,3,2151	20.0	27.0	24.0		7191	0.7	0.1	7		24	0,8502		0,0,4251	no	coding-notMod3	SSPO	NM_198455.2		0,3,6402	TT,TC,CC		0.0,0.0696,0.0234			149497429	3,12807	2154	4251	6405			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497429C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497429C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7187	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	19	0	0	0	1	0	10	19				
CFAP36	112942	broad.mit.edu	37	2	55771473	55771473	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:55771473G>C	ENST00000349456.4	+	9	1043	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	CCDC104_ENST00000339012.3_Missense_Mutation_p.E324Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.E270Q			Q96G28	CFA36_HUMAN		299										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAAAATATGGAGCAGAAAGG	0.398																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(895-897)Gag>Cag		coiled-coil domain containing 104							75.0	75.0	75.0					2																	55771473		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55771473G>C																												ENST00000349456.4:c.895G>C	2.37:g.55771473G>C	ENSP00000295117:p.Glu299Gln					CCDC104_ENST00000407816.3_Missense_Mutation_p.E270Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.E324Q	p.E299Q			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	1043	+			299					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.895G>C	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095947	0.56075	.	.	ENSG00000163001	ENST00000339012;ENST00000349456;ENST00000407816	T;T;T	0.18960	2.18;2.2;2.19	5.69	5.69	0.88448	.	0.108661	0.64402	D	0.000014	T	0.43986	0.1272	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.946;0.982	T	0.05517	-1.0880	10	0.35671	T	0.21	.	18.5943	0.91225	0.0:0.0:1.0:0.0	.	299;324	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	324;299;270	ENSP00000342699:E324Q;ENSP00000295117:E299Q;ENSP00000385376:E270Q	ENSP00000342699:E324Q	E	+	1	0	CCDC104	55624977	1.000000	0.71417	0.859000	0.33776	0.662000	0.39071	6.309000	0.72825	2.668000	0.90789	0.650000	0.86243	GAG		0.398	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			35	47	0	0	0	1	0	35	47				
C17orf97	400566	broad.mit.edu	37	17	263136	263136	+	Missense_Mutation	SNP	G	G	A	rs372805444		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:263136G>A	ENST00000360127.6	+	2	518	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	168										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TCGGATCAACGAAAGTCTGCG	0.517																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(502-504)Gaa>Aaa		chromosome 17 open reading frame 97		G	LYS/GLU	0,4406		0,0,2203	103.0	108.0	106.0		502	4.9	0.3	17		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	C17orf97	NM_001013672.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	168/424	263136	1,13005	2203	4300	6503	SO:0001583	missense	400566							g.chr17:263136G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.502G>A	17.37:g.263136G>A	ENSP00000353245:p.Glu168Lys					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.E168K	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	518	+			168					A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.502G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271711	0.59649	0.0	1.16E-4	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.58797	1.06;0.31	4.88	4.88	0.63580	.	0.000000	0.42821	D	0.000647	T	0.64951	0.2645	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61441	-0.7062	10	0.33940	T	0.23	-8.1555	14.2542	0.66040	0.0:0.0:1.0:0.0	.	168	Q6ZQX7-4	.	K	168;162	ENSP00000353245:E168K;ENSP00000419482:E162K	ENSP00000353245:E168K	E	+	1	0	C17orf97	263452	1.000000	0.71417	0.344000	0.25628	0.032000	0.12392	3.585000	0.53943	2.628000	0.89032	0.655000	0.94253	GAA		0.517	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		81	34	0	0	0	1	0	81	34				
CROCCP2	84809	broad.mit.edu	37	1	16955128	16955128	+	lincRNA	SNP	A	A	G	rs1762949	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:16955128A>G	ENST00000412962.1	-	0	311							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGGCTGTGGACCAGGTTGCT	0.682																																						ENST00000412962.1																			0																																																			0							g.chr1:16955128A>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16955128A>G														0	311	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.682	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	32	0	0	0	1	0	5	32				
BSN	8927	broad.mit.edu	37	3	49694637	49694637	+	Missense_Mutation	SNP	C	C	T	rs150764510		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:49694637C>T	ENST00000296452.4	+	5	7762	c.7648C>T	c.(7648-7650)Cgt>Tgt	p.R2550C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2550					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGGCCAGCCGTAGTGGCAT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20919	0.0		0.001	False		,,,				2504	0.0					ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(7648-7650)Cgt>Tgt		bassoon presynaptic cytomatrix protein							49.0	46.0	47.0					3																	49694637		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694637C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7648C>T	3.37:g.49694637C>T	ENSP00000296452:p.Arg2550Cys						p.R2550C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7762	+			2550					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7648C>T	CCDS2800.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.229	0.227797	0.09916	.	.	ENSG00000164061	ENST00000296452	T	0.21361	2.01	5.58	4.63	0.57726	.	0.105189	0.64402	D	0.000011	T	0.36524	0.0970	L	0.53249	1.67	0.44123	D	0.9969	D	0.89917	1.0	P	0.59221	0.854	T	0.07009	-1.0795	10	0.66056	D	0.02	-16.962	14.3823	0.66919	0.2284:0.7716:0.0:0.0	.	2550	Q9UPA5	BSN_HUMAN	C	2550	ENSP00000296452:R2550C	ENSP00000296452:R2550C	R	+	1	0	BSN	49669641	0.141000	0.22595	0.983000	0.44433	0.662000	0.39071	0.672000	0.25187	2.640000	0.89533	0.561000	0.74099	CGT		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		23	30	0	0	0	1	0	23	30				
CHRM3	1131	broad.mit.edu	37	1	240070975	240070975	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:240070975C>T	ENST00000255380.4	+	5	1003	c.224C>T	c.(223-225)aCg>aTg	p.T75M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	75					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCTTTCTTAACGGGCATCCTG	0.507																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(223-225)aCg>aTg		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						142.0	121.0	128.0					1																	240070975		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070975C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.224C>T	1.37:g.240070975C>T	ENSP00000255380:p.Thr75Met						p.T75M	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1003	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	75					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.224C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447152	0.63178	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.36520	2.07;1.25	5.6	5.6	0.85130	.	0.162045	0.53938	D	0.000056	T	0.56455	0.1986	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.56703	-0.7935	10	0.87932	D	0	-16.7682	15.4634	0.75377	0.0:0.862:0.138:0.0	.	75	P20309	ACM3_HUMAN	M	75	ENSP00000255380:T75M;ENSP00000404764:T75M	ENSP00000255380:T75M	T	+	2	0	CHRM3	238137598	1.000000	0.71417	0.136000	0.22124	0.992000	0.81027	5.966000	0.70395	2.788000	0.95919	0.650000	0.86243	ACG		0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		23	71	0	0	0	1	0	23	71				
SCYL1	57410	broad.mit.edu	37	11	65302778	65302778	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:65302778C>T	ENST00000270176.5	+	10	1388	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	SCYL1_ENST00000525364.1_Silent_p.A437A|SCYL1_ENST00000533862.1_Silent_p.A437A|SCYL1_ENST00000279270.6_Silent_p.A437A|SCYL1_ENST00000524944.1_Silent_p.A437A|SCYL1_ENST00000420247.2_Silent_p.A437A|SCYL1_ENST00000527009.1_Silent_p.A294A	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	437					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GGCTACAGGCCAAGGATGAAC	0.577																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1309-1311)gcC>gcT		SCY1-like 1 (S. cerevisiae)							121.0	127.0	125.0					11																	65302778		2163	4256	6419	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302778C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1311C>T	11.37:g.65302778C>T						SCYL1_ENST00000270176.5_Silent_p.A437A|SCYL1_ENST00000525364.1_Silent_p.A437A|SCYL1_ENST00000533862.1_Silent_p.A437A|SCYL1_ENST00000279270.6_Silent_p.A437A|SCYL1_ENST00000420247.2_Silent_p.A437A|SCYL1_ENST00000527630.1_Silent_p.A437A|SCYL1_ENST00000527009.1_Silent_p.A294A	p.A437A			Q96KG9	NTKL_HUMAN			10	1344	+			437					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1311C>T	CCDS41672.1																																																																																				0.577	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		58	255	0	0	0	1	0	58	255				
BMS1	9790	broad.mit.edu	37	10	43317508	43317508	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr10:43317508A>G	ENST00000374518.5	+	19	3072		c.e19-1			NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCCTGTTAGCCTGATTTT	0.308																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e19-1		BMS1 ribosome biogenesis factor							63.0	91.0	81.0					10																	43317508		1322	2261	3583	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43317508A>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3010-1A>G	10.37:g.43317508A>G								NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			19	3072	+								Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37		CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359805	0.24598	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2635	0.60120	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMS1	42637514	1.000000	0.71417	0.864000	0.33941	0.076000	0.17211	8.745000	0.91600	1.586000	0.49944	0.254000	0.18369	.		0.308	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Intron	16	57	0	0	0	1	0	16	57				
SRM	6723	broad.mit.edu	37	1	11115122	11115122	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:11115122G>A	ENST00000376957.2	-	7	865	c.785C>T	c.(784-786)cCg>cTg	p.P262L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	262					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CGGCTGCACCGGCTCCTGGAA	0.602																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(784-786)cCg>cTg		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						33.0	37.0	35.0					1																	11115122		2203	4298	6501	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11115122G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.785C>T	1.37:g.11115122G>A	ENSP00000366156:p.Pro262Leu						p.P262L	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	865	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)	262					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.785C>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897562	0.72639	.	.	ENSG00000116649	ENST00000376957	T	0.74737	-0.87	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89656	0.6778	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92093	0.5682	10	0.87932	D	0	.	17.9035	0.88912	0.0:0.0:1.0:0.0	.	262	P19623	SPEE_HUMAN	L	262	ENSP00000366156:P262L	ENSP00000366156:P262L	P	-	2	0	SRM	11037709	1.000000	0.71417	0.947000	0.38551	0.254000	0.26022	7.294000	0.78760	2.461000	0.83175	0.561000	0.74099	CCG		0.602	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		30	62	0	0	0	1	0	30	62				
MUC4	4585	broad.mit.edu	37	3	195510996	195510996	+	Silent	SNP	G	G	A	rs199626832	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:195510996G>A	ENST00000463781.3	-	2	7914	c.7455C>T	c.(7453-7455)gaC>gaT	p.D2485D	MUC4_ENST00000475231.1_Silent_p.D2485D|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGACGAAGCGTCGGTGACAA	0.582													.|||	28	0.00559105	0.0008	0.0043	5008	,	,		15785	0.0		0.0219	False		,,,				2504	0.002					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7453-7455)gaC>gaT		mucin 4, cell surface associated							52.0	45.0	47.0					3																	195510996		652	1590	2242	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195510996G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7455C>T	3.37:g.195510996G>A						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.D2485D|MUC4_ENST00000346145.4_Intron	p.D2485D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7914	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	243					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.7455C>T	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	18	0	0	0	1	0	4	18				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	17	0	0	0	1	0	3	17				
DVL1	1855	broad.mit.edu	37	1	1273765	1273765	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:1273765C>T	ENST00000378888.5	-	13	1675	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R439Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	464	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTCCCGCCGCTCCTTGAA	0.657																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1390-1392)cGg>cAg		dishevelled segment polarity protein 1							38.0	37.0	37.0					1																	1273765		2202	4294	6496	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1273765C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1391G>A	1.37:g.1273765C>T	ENSP00000368166:p.Arg464Gln					DVL1_ENST00000378891.5_Missense_Mutation_p.R439Q	p.R464Q			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	13	1675	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	464			DEP.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1391G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.986210	0.74589	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000263743	T;T	0.41065	1.01;1.01	3.48	3.48	0.39840	DEP domain (6);Winged helix-turn-helix transcription repressor DNA-binding (2);	0.125321	0.47093	D	0.000247	T	0.71048	0.3294	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.73380	0.966;0.942;0.98;0.977	T	0.81147	-0.1065	10	0.87932	D	0	.	15.5841	0.76468	0.0:1.0:0.0:0.0	.	122;464;439;439	G3XA93;O14640;P54792;O14640-2	.;DVL1_HUMAN;DVL1L_HUMAN;.	Q	439;464;122	ENSP00000368169:R439Q;ENSP00000368166:R464Q	ENSP00000263743:R122Q	R	-	2	0	DVL1	1263628	1.000000	0.71417	0.718000	0.30602	0.858000	0.48976	7.494000	0.81503	1.962000	0.57031	0.449000	0.29647	CGG		0.657	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		20	41	0	0	0	1	0	20	41				
ITPKA	3706	broad.mit.edu	37	15	41794651	41794651	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr15:41794651C>G	ENST00000260386.5	+	5	1113	c.1060C>G	c.(1060-1062)Cag>Gag	p.Q354E		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	354					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGCCGAGAGCAGGTGCTTCG	0.617																																						ENST00000260386.5																			0				kidney(1)|lung(3)|skin(1)	5						c.(1060-1062)Cag>Gag		inositol-trisphosphate 3-kinase A							68.0	71.0	70.0					15																	41794651		2203	4300	6503	SO:0001583	missense	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41794651C>G	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1060C>G	15.37:g.41794651C>G	ENSP00000260386:p.Gln354Glu						p.Q354E	NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	5	1113	+		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	354					Q8TAN3	Missense_Mutation	SNP	ENST00000260386.5	37	c.1060C>G	CCDS10076.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540478	0.45176	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T;T	0.13538	2.58;2.58	4.8	4.8	0.61643	.	0.117980	0.56097	D	0.000022	T	0.11965	0.0291	L	0.38531	1.155	0.49582	D	0.999804	B	0.30889	0.299	B	0.24701	0.055	T	0.08186	-1.0734	10	0.35671	T	0.21	-0.7184	15.1673	0.72840	0.0:1.0:0.0:0.0	.	354	P23677	IP3KA_HUMAN	E	249;354	ENSP00000396560:Q249E;ENSP00000260386:Q354E	ENSP00000260386:Q354E	Q	+	1	0	ITPKA	39581943	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.578000	0.53892	2.497000	0.84241	0.655000	0.94253	CAG		0.617	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3	NM_002220		28	43	0	0	0	1	0	28	43				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	77	0	0	0	1	0	10	77				
ACTA1	58	broad.mit.edu	37	1	229568733	229568733	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:229568733C>A	ENST00000366684.3	-	2	232		c.e2+1		ACTA1_ENST00000366683.2_Splice_Site	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle						cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGCAGCCTGACCTGGTGTCGG	0.721																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.e2+1		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						18.0	22.0	21.0					1																	229568733		2196	4293	6489	SO:0001630	splice_region_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568733C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.129+1G>T	1.37:g.229568733C>A						ACTA1_ENST00000366683.2_Splice_Site		NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	232	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)						P02568|P99020|Q5T8M9	Splice_Site	SNP	ENST00000366684.3	37		CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328950	0.60743	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3928	0.83545	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTA1	227635356	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.292000	0.78731	2.395000	0.81488	0.655000	0.94253	.		0.721	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100	Intron	20	61	1	0	8.10497e-08	1	8.78852e-08	20	61				
IFFO1	25900	broad.mit.edu	37	12	6664977	6664977	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:6664977G>A	ENST00000396840.2	-	1	260	c.219C>T	c.(217-219)aaC>aaT	p.N73N	IFFO1_ENST00000336604.4_Silent_p.N73N|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Silent_p.N73N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	73						intermediate filament (GO:0005882)		p.N73K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCACGTTGATGTTGGAGCCCA	0.706																																						ENST00000336604.4																			1	Substitution - Missense(1)	p.N73K(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(217-219)aaC>aaT		intermediate filament family orphan 1							50.0	53.0	52.0					12																	6664977		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6664977G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.219C>T	12.37:g.6664977G>A						IFFO1_ENST00000396840.2_Silent_p.N73N|IFFO1_ENST00000356896.4_Silent_p.N73N	p.N73N	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	260	-			73					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.219C>T																																																																																					0.706	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		14	63	0	0	0	1	0	14	63				
LRRN2	10446	broad.mit.edu	37	1	204588977	204588977	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:204588977G>A	ENST00000367175.1	-	1	2356	c.144C>T	c.(142-144)cgC>cgT	p.R48R	LRRN2_ENST00000367176.3_Silent_p.R48R|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.R48R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	48	LRRNT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTAGCCTCGCGGTAGGACG	0.657																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(142-144)cgC>cgT		leucine rich repeat neuronal 2							40.0	39.0	40.0					1																	204588977		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588977G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.144C>T	1.37:g.204588977G>A						LRRN2_ENST00000367177.3_Silent_p.R48R|LRRN2_ENST00000367176.3_Silent_p.R48R	p.R48R			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2356	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		48			LRRNT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.144C>T	CCDS1448.1																																																																																				0.657	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		23	77	0	0	0	1	0	23	77				
TH	7054	broad.mit.edu	37	11	2186489	2186489	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:2186489C>T	ENST00000381178.1	-	13	1418	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	TH_ENST00000333684.5_Missense_Mutation_p.S346N|TH_ENST00000381175.1_Missense_Mutation_p.S463N|TH_ENST00000352909.3_Missense_Mutation_p.S436N	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	467					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCACTGAAGCTCTCAGACAC	0.622																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(1399-1401)aGc>aAc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						121.0	107.0	112.0					11																	2186489		2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2186489C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1400G>A	11.37:g.2186489C>T	ENSP00000370571:p.Ser467Asn					TH_ENST00000381175.1_Missense_Mutation_p.S463N|TH_ENST00000333684.5_Missense_Mutation_p.S346N|TH_ENST00000352909.3_Missense_Mutation_p.S436N	p.S467N	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	13	1418	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	467					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.1400G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564957	0.45694	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62	3.66	3.66	0.41972	Aromatic amino acid hydroxylase, C-terminal (4);	0.041393	0.85682	D	0.000000	D	0.99248	0.9738	L	0.56199	1.76	0.38249	D	0.941553	D;B;B;B;B;B	0.56521	0.976;0.064;0.183;0.033;0.04;0.033	P;B;B;B;B;B	0.52793	0.709;0.127;0.172;0.019;0.032;0.019	D	0.99113	1.0847	10	0.56958	D	0.05	-16.3007	15.2129	0.73241	0.0:1.0:0.0:0.0	.	440;346;342;436;467;463	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	N	467;463;436;346	ENSP00000370571:S467N;ENSP00000370567:S463N;ENSP00000325951:S436N;ENSP00000328814:S346N	ENSP00000328814:S346N	S	-	2	0	TH	2143065	1.000000	0.71417	0.670000	0.29842	0.311000	0.27955	4.646000	0.61411	1.995000	0.58328	0.491000	0.48974	AGC		0.622	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		6	85	0	0	0	1	0	6	85				
HLA-E	3133	broad.mit.edu	37	6	30457613	30457613	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:30457613A>G	ENST00000376630.4	+	2	240	c.175A>G	c.(175-177)Aac>Gac	p.N59D		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	59	Alpha-1.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GCGCTTCGACAACGACGCCGC	0.672																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(175-177)Aac>Gac		major histocompatibility complex, class I, E							60.0	65.0	63.0					6																	30457613		1510	2707	4217	SO:0001583	missense	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30457613A>G	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.175A>G	6.37:g.30457613A>G	ENSP00000365817:p.Asn59Asp						p.N59D	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			2	240	+			59			Alpha-1.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	c.175A>G	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856384	0.51376	.	.	ENSG00000204592	ENST00000376630	T	0.00010	9.45	1.67	1.67	0.24075	.	0.377447	0.18534	U	0.138420	T	0.00039	0.0001	L	0.28192	0.835	0.21984	N	0.999438	B;B	0.33528	0.416;0.177	B;B	0.38712	0.28;0.156	T	0.00018	-1.2373	10	0.87932	D	0	.	5.384	0.16208	1.0:0.0:0.0:0.0	.	100;59	E7ENN9;Q6DU44	.;.	D	59	ENSP00000365817:N59D	ENSP00000365817:N59D	N	+	1	0	HLA-E	30565592	0.994000	0.37717	0.984000	0.44739	0.099000	0.18886	0.758000	0.26447	1.016000	0.39470	0.379000	0.24179	AAC		0.672	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		32	87	0	0	0	1	0	32	87				
YPEL4	219539	broad.mit.edu	37	11	57413796	57413796	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:57413796A>G	ENST00000524669.1	-	4	2990	c.268T>C	c.(268-270)Tgc>Cgc	p.C90R	YPEL4_ENST00000531442.1_5'Flank|YPEL4_ENST00000300022.3_Missense_Mutation_p.C90R|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90R|YPEL4_ENST00000544993.1_Missense_Mutation_p.C90R|AP000662.4_ENST00000530595.1_RNA			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	90						nucleus (GO:0005634)				lung(2)|skin(1)	3						GTGGTTTTGCAGCTCTCACAG	0.557																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(268-270)Tgc>Cgc		yippee-like 4 (Drosophila)							90.0	82.0	85.0					11																	57413796		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413796A>G	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.268T>C	11.37:g.57413796A>G	ENSP00000432648:p.Cys90Arg					YPEL4_ENST00000544993.1_Missense_Mutation_p.C90R|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90R|YPEL4_ENST00000300022.3_Missense_Mutation_p.C90R|AP000662.4_ENST00000530595.1_RNA	p.C90R			Q96NS1	YPEL4_HUMAN			4	2990	-			90					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.268T>C	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632798	0.87660	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.87989	0.6317	H	0.97540	4.025	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.92200	0.5767	9	0.87932	D	0	-12.3792	14.9918	0.71393	1.0:0.0:0.0:0.0	.	90	Q96NS1	YPEL4_HUMAN	R	90	.	ENSP00000300022:C90R	C	-	1	0	YPEL4	57170372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.043000	0.93799	2.026000	0.59711	0.454000	0.30748	TGC		0.557	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		16	25	0	0	0	1	0	16	25				
LAMB2	3913	broad.mit.edu	37	3	49167320	49167320	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:49167320G>C	ENST00000418109.1	-	11	1521	c.1357C>G	c.(1357-1359)Cgt>Ggt	p.R453G	LAMB2_ENST00000305544.4_Missense_Mutation_p.R453G	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	453	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGCCATCACGGCATTGCTGG	0.582																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1357-1359)Cgt>Ggt		laminin, beta 2 (laminin S)							152.0	140.0	144.0					3																	49167320		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167320G>C		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1357C>G	3.37:g.49167320G>C	ENSP00000388325:p.Arg453Gly					LAMB2_ENST00000305544.4_Missense_Mutation_p.R453G	p.R453G	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1521	-			453			Laminin EGF-like 3.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1357C>G	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828135	0.71143	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61980	0.06;0.06	5.56	4.61	0.57282	EGF-like, laminin (4);	0.185133	0.45361	D	0.000365	T	0.68787	0.3039	M	0.70842	2.15	0.35469	D	0.797214	P	0.46064	0.872	P	0.48488	0.579	T	0.79063	-0.1957	10	0.56958	D	0.05	.	15.0543	0.71901	0.0:0.0:0.7769:0.2231	.	453	P55268	LAMB2_HUMAN	G	453	ENSP00000388325:R453G;ENSP00000307156:R453G	ENSP00000307156:R453G	R	-	1	0	LAMB2	49142324	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	1.741000	0.38238	2.601000	0.87937	0.655000	0.94253	CGT		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		5	165	0	0	0	1	0	5	165				
LOC283194	283194	broad.mit.edu	37	11	58746382	58746382	+	RNA	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:58746382G>T	ENST00000525714.1	-	0	158				RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000532098.1_RNA																							GTCCCTGAAGGTGAGGGAACA	0.433																																						ENST00000533954.1																			0																																																			0							g.chr11:58746382G>T																													11.37:g.58746382G>T						RP11-142C4.6_ENST00000532098.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA		NR_033853.1						0	754	-									RNA	SNP	ENST00000525714.1	37																																																																																						0.433	RP11-142C4.6-002	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000394604.1			7	2	1	0	2.0095e-06	1	2.15303e-06	7	2				
MOGAT2	80168	broad.mit.edu	37	11	75438615	75438615	+	Missense_Mutation	SNP	C	C	T	rs142019515	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:75438615C>T	ENST00000198801.5	+	3	476	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	MOGAT2_ENST00000526712.1_Missense_Mutation_p.R54C	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	136					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCCCGGTATCCGCCCCCATCT	0.572																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(160-162)Cgc>Tgc		monoacylglycerol O-acyltransferase 2		C	CYS/ARG	7,4393	12.9+/-30.5	0,7,2193	124.0	115.0	118.0		406	3.9	0.8	11	dbSNP_134	118	0,8586		0,0,4293	yes	missense	MOGAT2	NM_025098.2	180	0,7,6486	TT,TC,CC		0.0,0.1591,0.0539	probably-damaging	136/335	75438615	7,12979	2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438615C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.406C>T	11.37:g.75438615C>T	ENSP00000198801:p.Arg136Cys					MOGAT2_ENST00000198801.5_Missense_Mutation_p.R136C	p.R54C			Q3SYC2	MOGT2_HUMAN			2	933	+	Ovarian(111;0.103)		136					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.160C>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375629	0.42105	0.001591	0.0	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.19669	2.13;2.13	5.77	3.92	0.45320	.	0.242299	0.42053	N	0.000774	T	0.31104	0.0786	M	0.92604	3.325	0.54753	D	0.999988	B;B	0.17268	0.002;0.021	B;B	0.16722	0.005;0.016	T	0.19353	-1.0308	10	0.56958	D	0.05	-1.339	5.3876	0.16226	0.2443:0.5994:0.0:0.1563	.	136;136	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	C	136;54	ENSP00000198801:R136C;ENSP00000436283:R54C	ENSP00000198801:R136C	R	+	1	0	MOGAT2	75116263	0.056000	0.20664	0.844000	0.33320	0.591000	0.36615	0.794000	0.26958	0.796000	0.33947	0.655000	0.94253	CGC		0.572	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		148	58	0	0	0	1	0	148	58				
MT-CYB	4519	broad.mit.edu	37	M	15374	15374	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrM:15374G>A	ENST00000361789.2	+	1	628	c.628G>A	c.(628-630)Gga>Aga	p.G210R	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	210					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						ACAACCCCCTAGGAATCACCT	0.453											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(628-630)Gga>Aga		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15374G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.628G>A	M.37:g.15374G>A	ENSP00000354554:p.Gly210Arg		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.210_210insR							1	628	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.628G>A																																																																																					0.453	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		17	250	0	0	0	1	0	17	250				
PRRX2	51450	broad.mit.edu	37	9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:132481518C>T	ENST00000372469.4	+	2	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	90				P -> S (in Ref. 5; AAB39864). {ECO:0000305}.	artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(268-270)Ccc>Tcc		paired related homeobox 2							13.0	16.0	15.0					9																	132481518		2178	4288	6466	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132481518C>T	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.268C>T	9.37:g.132481518C>T	ENSP00000361547:p.Pro90Ser						p.P90S	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			2	495	+		Ovarian(14;0.00556)	90	P -> S (in Ref. 5; AAB39864).				Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.268C>T	CCDS6926.1	.	.	.	.	.	.	.	.	.	.	C	8.569	0.879537	0.17467	.	.	ENSG00000167157	ENST00000372469	D	0.89681	-2.55	4.41	4.41	0.53225	Homeodomain-related (1);	0.300464	0.31312	N	0.007868	T	0.80518	0.4638	N	0.24115	0.695	0.43025	D	0.994584	B	0.29909	0.261	B	0.29353	0.101	T	0.76862	-0.2802	10	0.09338	T	0.73	.	16.1532	0.81636	0.0:1.0:0.0:0.0	.	90	Q99811	PRRX2_HUMAN	S	90	ENSP00000361547:P90S	ENSP00000361547:P90S	P	+	1	0	PRRX2	131521339	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.081000	0.50120	2.302000	0.77476	0.462000	0.41574	CCC		0.657	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		9	7	0	0	0	1	0	9	7				
OVCH1	341350	broad.mit.edu	37	12	29624754	29624754	+	Missense_Mutation	SNP	C	C	T	rs189201759		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29624754C>T	ENST00000318184.5	-	16	1836	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	613	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGTGGGCTGCGGTCAGAATC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18244	0.0		0.001	False		,,,				2504	0.0					ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1837-1839)Gca>Aca		ovochymase 1		C	THR/ALA	0,3986		0,0,1993	56.0	58.0	57.0		1837	2.1	0.4	12		57	4,8346		0,4,4171	yes	missense	OVCH1	NM_183378.2	58	0,4,6164	TT,TC,CC		0.0479,0.0,0.0324	probably-damaging	613/1135	29624754	4,12332	1993	4175	6168	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624754C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1837G>A	12.37:g.29624754C>T	ENSP00000326708:p.Ala613Thr					OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.A613T	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			16	1836	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		613			Peptidase S1 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1837G>A		3	0.0013736263736263737	0	0.0	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	C	24.4	4.525671	0.85600	0.0	4.79E-4	ENSG00000187950	ENST00000318184	D	0.95238	-3.65	2.06	2.06	0.26882	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97331	0.9127	M	0.91818	3.245	0.41967	D	0.990731	D	0.89917	1.0	D	0.87578	0.998	D	0.97556	1.0095	9	0.87932	D	0	.	11.6663	0.51376	0.0:1.0:0.0:0.0	.	613	Q7RTY7	OVCH1_HUMAN	T	613	ENSP00000326708:A613T	ENSP00000326708:A613T	A	-	1	0	OVCH1	29516021	0.992000	0.36948	0.429000	0.26710	0.815000	0.46073	1.709000	0.37909	1.484000	0.48361	0.591000	0.81541	GCA		0.493	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		4	25	0	0	0	1	0	4	25				
PCDHA12	56137	broad.mit.edu	37	5	140257222	140257222	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:140257222G>A	ENST00000398631.2	+	1	2165	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	722					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCGCTGCGTTGCTCAGCG	0.657																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2164-2166)cGt>cAt									32.0	31.0	31.0					5																	140257222		2203	4299	6502	SO:0001583	missense	0							g.chr5:140257222G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2165G>A	5.37:g.140257222G>A	ENSP00000381628:p.Arg722His					PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.R722H	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2165	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2165G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835945	0.32421	.	.	ENSG00000251664	ENST00000398631	T	0.17528	2.27	4.94	4.07	0.47477	.	.	.	.	.	T	0.38799	0.1054	H	0.96015	3.755	0.25729	N	0.98528	D;P	0.56746	0.977;0.79	P;B	0.47118	0.538;0.16	T	0.50792	-0.8786	9	0.87932	D	0	.	8.8107	0.34965	0.2208:0.0:0.7792:0.0	.	722;722	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	722	ENSP00000381628:R722H	ENSP00000381628:R722H	R	+	2	0	PCDHA12	140237406	0.013000	0.17824	0.807000	0.32361	0.083000	0.17756	1.139000	0.31504	1.072000	0.40860	0.655000	0.94253	CGT		0.657	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		31	43	0	0	0	1	0	31	43				
RBM28	55131	broad.mit.edu	37	7	127958088	127958088	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:127958088C>T	ENST00000223073.2	-	15	1749	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	RBM28_ENST00000415472.2_Silent_p.A404A|RBM28_ENST00000481788.1_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	545	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTGGAACTCCGCAAAGGCGT	0.512																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1633-1635)gcG>gcA		RNA binding motif protein 28							93.0	80.0	85.0					7																	127958088		2203	4300	6503	SO:0001819	synonymous_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127958088C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1635G>A	7.37:g.127958088C>T						RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.A404A	p.A545A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			15	1749	-			545			RRM 4.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	c.1635G>A	CCDS5801.1																																																																																				0.512	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		15	28	0	0	0	1	0	15	28				
COL15A1	1306	broad.mit.edu	37	9	101748168	101748168	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:101748168C>G	ENST00000375001.3	+	3	845	c.422C>G	c.(421-423)cCa>cGa	p.P141R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	141	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACACGGAGCCAGGCTCCCAT	0.607																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(421-423)cCa>cGa		collagen, type XV, alpha 1							103.0	96.0	98.0					9																	101748168		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748168C>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.422C>G	9.37:g.101748168C>G	ENSP00000364140:p.Pro141Arg						p.P141R	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	845	+		Acute lymphoblastic leukemia(62;0.0562)	141			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.422C>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996797	0.35226	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73047	-0.71	5.25	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.115312	0.56097	D	0.000024	T	0.71626	0.3362	M	0.73598	2.24	0.51012	D	0.999901	B;B	0.22003	0.025;0.063	B;B	0.30316	0.038;0.114	T	0.71341	-0.4622	10	0.56958	D	0.05	-13.6882	12.17	0.54152	0.0:0.9157:0.0:0.0843	.	141;111	P39059;B3KTP7	COFA1_HUMAN;.	R	141;111	ENSP00000364140:P141R	ENSP00000364140:P141R	P	+	2	0	COL15A1	100787989	0.994000	0.37717	0.938000	0.37757	0.264000	0.26372	3.223000	0.51231	1.349000	0.45751	-0.143000	0.13931	CCA		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		11	86	0	0	0	1	0	11	86				
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260.0	223.0	235.0					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys					FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			31	68	0	0	0	1	0	31	68				
AK9	221264	broad.mit.edu	37	6	109815251	109815251	+	Silent	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:109815251T>C	ENST00000424296.2	-	40	5542	c.5466A>G	c.(5464-5466)ttA>ttG	p.L1822L	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1822					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)										ACTTGGGCTTTAAGCATCCCG	0.363																																						ENST00000424296.2																			0											c.(5464-5466)ttA>ttG		adenylate kinase 9							69.0	73.0	72.0					6																	109815251		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109815251T>C	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.5466A>G	6.37:g.109815251T>C						RP5-919F19.5_ENST00000423747.1_RNA	p.L1822L	NM_001145128.2	NP_001138600.2					40	5542	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5466A>G	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	7.624	0.677481	0.14841	.	.	ENSG00000155085	ENST00000490722	.	.	.	5.07	1.38	0.22167	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14062	-1.0486	4	.	.	.	.	4.3371	0.11092	0.138:0.2759:0.0:0.586	.	.	.	.	E	223	.	.	K	-	1	0	AKD1	109921944	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	0.966000	0.29331	0.348000	0.23949	-0.256000	0.11100	AAA		0.363	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	28	0	0	0	1	0	15	28				
NRD1	4898	broad.mit.edu	37	1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	667					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCCTTCAACGTAAAGTCCGT	0.373																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2206-2208)aCg>aTg		nardilysin (N-arginine dibasic convertase)							111.0	111.0	111.0					1																	52272573		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52272573G>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2207C>T	1.37:g.52272573G>A	ENSP00000346890:p.Thr736Met					NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M	p.T736M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			20	2396	-			667					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2207C>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463744	0.12402	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.1	2.01	0.26516	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.222182	0.47093	N	0.000260	T	0.24122	0.0584	M	0.74647	2.275	0.44702	D	0.997694	P;B;B	0.35780	0.52;0.198;0.198	B;B;B	0.26614	0.071;0.032;0.032	T	0.03795	-1.1003	10	0.41790	T	0.15	-0.2231	10.2689	0.43470	0.2059:0.0:0.7941:0.0	.	668;667;736	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	668;736;604;668;536	ENSP00000262679:T668M;ENSP00000346890:T736M;ENSP00000444416:T604M;ENSP00000442262:T536M	ENSP00000262679:T668M	T	-	2	0	NRD1	52045161	0.991000	0.36638	0.275000	0.24674	0.087000	0.18053	3.724000	0.54962	0.106000	0.17784	-0.237000	0.12165	ACG		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		20	67	0	0	0	1	0	20	67				
ERGIC2	51290	broad.mit.edu	37	12	29494102	29494102	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29494102T>C	ENST00000360150.4	-	14	1196	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	374				N -> S (in Ref. 4; BAD96519). {ECO:0000305}.	vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					ATGTGTATTATTTTCTAAAAG	0.318																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1120-1122)aAt>aGt		ERGIC and golgi 2	Arsenic trioxide(DB01169)						67.0	61.0	62.0					12																	29494102		1808	4086	5894	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29494102T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.1121A>G	12.37:g.29494102T>C	ENSP00000353270:p.Asn374Ser						p.N374S	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			14	1196	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		374	N -> S (in Ref. 4; BAD96519).				A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.1121A>G	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.851978|2.851978	0.51270|0.51270	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000551467|ENST00000360150;ENST00000201023	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.193565	.|0.40908	.|D	.|0.000996	T|T	0.41534|0.41534	0.1163|0.1163	L|L	0.27053|0.27053	0.805|0.805	0.31399|0.31399	N|N	0.676925|0.676925	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	T|T	0.48592|0.48592	-0.9022|-0.9022	5|9	.|0.54805	.|T	.|0.06	.|.	13.0163|13.0163	0.58759|0.58759	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|374	.|Q96RQ1	.|ERGI2_HUMAN	V|S	206|374;382	.|.	.|ENSP00000201023:N382S	I|N	-|-	1|2	0|0	ERGIC2|ERGIC2	29385369|29385369	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	4.709000|4.709000	0.61867|0.61867	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.318	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		3	12	0	0	0	1	0	3	12				
MUC4	4585	broad.mit.edu	37	3	195505790	195505790	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:195505790G>C	ENST00000463781.3	-	2	13120	c.12661C>G	c.(12661-12663)Cac>Gac	p.H4221D	MUC4_ENST00000475231.1_Missense_Mutation_p.H4221D|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	978					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12661-12663)Cac>Gac		mucin 4, cell surface associated							24.0	25.0	25.0					3																	195505790		2080	4171	6251	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505790G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12661C>G	3.37:g.195505790G>C	ENSP00000417498:p.His4221Asp					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4221D|MUC4_ENST00000346145.4_Intron	p.H4221D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13120	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	978					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12661C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	7.658	0.684339	0.14907	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30182	1.55;1.54	1.25	1.25	0.21368	.	.	.	.	.	T	0.10508	0.0257	N	0.03608	-0.345	0.09310	N	1	B	0.30727	0.292	B	0.19391	0.025	T	0.24548	-1.0157	8	.	.	.	.	6.0271	0.19660	0.0:0.0:1.0:0.0	rs11928301	4093	E7ESK3	.	D	4221	ENSP00000417498:H4221D;ENSP00000420243:H4221D	.	H	-	1	0	MUC4	196990569	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	-0.034000	0.12225	1.015000	0.39444	0.482000	0.46254	CAC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	19	0	0	0	1	0	3	19				
PDE4DIP	9659	broad.mit.edu	37	1	144931280	144931280	+	Intron	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:144931280C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000529945.1_Silent_p.E143E|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.E143E|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATCCTCATTCTCCACCCAGC	0.582			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(427-429)gaG>gaA		phosphodiesterase 4D interacting protein							144.0	142.0	142.0					1																	144931280		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144931280C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7459G>A	1.37:g.144931280C>T						PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.E143E	p.E143E			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	868	-			0		K -> E (in dbSNP:rs1747958).			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.429G>A	CCDS30824.1																																																																																				0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		67	209	0	0	0	1	0	67	209				
ELN	2006	broad.mit.edu	37	7	73470684	73470684	+	Missense_Mutation	SNP	G	G	A	rs375116795		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:73470684G>A	ENST00000252034.7	+	20	1633	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	ELN_ENST00000380576.5_Missense_Mutation_p.G412R|ELN_ENST00000358929.4_Missense_Mutation_p.G412R|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380584.4_Missense_Mutation_p.G398R|ELN_ENST00000380575.4_Missense_Mutation_p.G402R|ELN_ENST00000380553.4_Missense_Mutation_p.G295R|ELN_ENST00000380562.4_Missense_Mutation_p.G412R|ELN_ENST00000320492.7_Missense_Mutation_p.G376R|ELN_ENST00000458204.1_Missense_Mutation_p.G402R|ELN_ENST00000414324.1_Missense_Mutation_p.G407R|ELN_ENST00000445912.1_Missense_Mutation_p.G412R|ELN_ENST00000320399.6_Missense_Mutation_p.G412R|ELN_ENST00000429192.1_Missense_Mutation_p.G417R|ELN_ENST00000357036.5_Missense_Mutation_p.G417R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGTCGGAGTCGGAGGTATCCC	0.637			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1234-1236)Gga>Aga		elastin	Rofecoxib(DB00533)	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	113.0	116.0	115.0		1234,1204,1249,1249,1234	1.4	0.1	7		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ELN	NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1	125,125,125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	412/725,402/678,417/693,417/712,412/706	73470684	1,13005	2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73470684G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1234G>A	7.37:g.73470684G>A	ENSP00000252034:p.Gly412Arg					ELN_ENST00000414324.1_Missense_Mutation_p.G407R|ELN_ENST00000380553.4_Missense_Mutation_p.G295R|ELN_ENST00000380562.4_Missense_Mutation_p.G412R|ELN_ENST00000380575.4_Missense_Mutation_p.G402R|ELN_ENST00000380576.5_Missense_Mutation_p.G412R|ELN_ENST00000380584.4_Missense_Mutation_p.G398R|ELN_ENST00000358929.4_Missense_Mutation_p.G412R|ELN_ENST00000357036.5_Missense_Mutation_p.G417R|ELN_ENST00000320399.6_Missense_Mutation_p.G412R|ELN_ENST00000320492.7_Missense_Mutation_p.G376R|ELN_ENST00000429192.1_Missense_Mutation_p.G417R|ELN_ENST00000458204.1_Missense_Mutation_p.G402R|ELN_ENST00000445912.1_Missense_Mutation_p.G412R|ELN_ENST00000466878.1_3'UTR	p.G412R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			20	1633	+		Lung NSC(55;0.159)	412			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1234G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619382	0.28801	0.0	1.16E-4	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.9;0.94;1.26;1.17;1.21;0.94;1.1;1.21;0.98;0.91;1.15;0.88;1.0;0.89	1.37	1.37	0.22104	.	.	.	.	.	T	0.46983	0.1421	.	.	.	0.18873	N	0.999989	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.78314	0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991	T	0.35375	-0.9791	8	0.14252	T	0.57	-0.2172	5.7639	0.18215	0.0:0.0:1.0:0.0	.	412;381;376;407;402;412;402;417;417;412;295;368;398;412	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	412;412;412;376;407;412;402;398;402;417;417;381;295;412;412	ENSP00000389857:G412R;ENSP00000252034:G412R;ENSP00000351807:G412R;ENSP00000315607:G376R;ENSP00000392575:G407R;ENSP00000369936:G412R;ENSP00000369949:G402R;ENSP00000369958:G398R;ENSP00000403162:G402R;ENSP00000349540:G417R;ENSP00000391129:G417R;ENSP00000369926:G295R;ENSP00000369950:G412R;ENSP00000313565:G412R	ENSP00000252034:G412R	G	+	1	0	ELN	73108620	0.929000	0.31497	0.124000	0.21820	0.158000	0.22134	2.417000	0.44653	0.513000	0.28278	0.306000	0.20318	GGA		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		51	118	0	0	0	1	0	51	118				
KNOP1	400506	broad.mit.edu	37	16	19718345	19718345	+	Missense_Mutation	SNP	G	G	A	rs199817759	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:19718345G>A	ENST00000219837.7	-	5	1342	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	KNOP1_ENST00000568230.1_Missense_Mutation_p.R101W|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	422	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTCATGGCCCGGTCGTAGTCC	0.612													G|||	44	0.00878594	0.0015	0.0	5008	,	,		15624	0.0		0.0	False		,,,				2504	0.0429					ENST00000219837.7																			0											c.(1264-1266)Cgg>Tgg		lysine-rich nucleolar protein 1		G	TRP/ARG	3,3757		0,3,1877	69.0	75.0	73.0		1264	2.1	1.0	16		73	11,8189		0,11,4089	yes	missense	C16orf88	NM_001012991.2	101	0,14,5966	AA,AG,GG		0.1341,0.0798,0.1171	probably-damaging	422/459	19718345	14,11946	1880	4100	5980	SO:0001583	missense	400506							g.chr16:19718345G>A	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1264C>T	16.37:g.19718345G>A	ENSP00000219837:p.Arg422Trp					KNOP1_ENST00000568230.1_Missense_Mutation_p.R101W|AC002550.5_ENST00000565916.1_RNA	p.R422W	NM_001012991.2	NP_001013009.2					5	1342	-								O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.1264C>T	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155217	0.78114	7.98E-4	0.001341	ENSG00000103550	ENST00000219837	T	0.28069	1.63	5.4	2.11	0.27256	.	1.015940	0.07886	N	0.970402	T	0.50360	0.1611	M	0.66939	2.045	0.40393	D	0.979561	D	0.89917	1.0	D	0.74674	0.984	T	0.40664	-0.9551	9	.	.	.	-4.3788	7.3305	0.26580	0.089:0.0:0.3539:0.5571	.	422	Q1ED39	CP088_HUMAN	W	422	ENSP00000219837:R422W	.	R	-	1	2	C16orf88	19625846	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	1.833000	0.39161	0.636000	0.30508	0.563000	0.77884	CGG		0.612	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		4	112	0	0	0	1	0	4	112				
SRRM1	10250	broad.mit.edu	37	1	24998725	24998725	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:24998725G>A	ENST00000323848.9	+	17	2978	c.2663G>A	c.(2662-2664)cGt>cAt	p.R888H	SRRM1_ENST00000374389.4_Missense_Mutation_p.R897H|SRRM1_ENST00000447431.2_Missense_Mutation_p.R900H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	888					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAGCACCTGCGTGAAAAGGCC	0.413																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2662-2664)cGt>cAt		serine/arginine repetitive matrix 1							49.0	49.0	49.0					1																	24998725		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24998725G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2663G>A	1.37:g.24998725G>A	ENSP00000326261:p.Arg888His					SRRM1_ENST00000374389.4_Missense_Mutation_p.R897H|SRRM1_ENST00000447431.2_Missense_Mutation_p.R900H	p.R888H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	17	2978	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	888					O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2663G>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820174	0.71028	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.69926	-0.41;-0.41;-0.44	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.78310	0.4263	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.79105	-0.1940	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	900;888	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	888;900;897	ENSP00000326261:R888H;ENSP00000391430:R900H;ENSP00000363510:R897H	ENSP00000326261:R888H	R	+	2	0	SRRM1	24871312	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.651000	0.83577	2.722000	0.93159	0.650000	0.86243	CGT		0.413	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		14	12	0	0	0	1	0	14	12				
GEMIN5	25929	broad.mit.edu	37	5	154299598	154299598	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:154299598G>A	ENST00000285873.7	-	11	1603	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	510					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGGATTATGCTGTAAGACA	0.413																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1528-1530)Cat>Tat		gem (nuclear organelle) associated protein 5							170.0	145.0	154.0					5																	154299598		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154299598G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1528C>T	5.37:g.154299598G>A	ENSP00000285873:p.His510Tyr						p.H510Y	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1603	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	510					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1528C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551527	0.86127	.	.	ENSG00000082516	ENST00000285873	T	0.03772	3.81	5.67	4.79	0.61399	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.00525	-1.1689	10	0.49607	T	0.09	-14.8143	16.1725	0.81828	0.0:0.0:0.8655:0.1345	.	509;510	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	510	ENSP00000285873:H510Y	ENSP00000285873:H510Y	H	-	1	0	GEMIN5	154279791	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.071000	0.93980	1.491000	0.48482	0.585000	0.79938	CAT		0.413	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			16	16	0	0	0	1	0	16	16				
ZNF251	90987	broad.mit.edu	37	8	145948368	145948368	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:145948368C>T	ENST00000292562.7	-	5	952	c.677G>A	c.(676-678)aGa>aAa	p.R226K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	226					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCTGGTGTCTACTTAGGTC	0.428																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(676-678)aGa>aAa		zinc finger protein 251							57.0	61.0	60.0					8																	145948368		2046	4208	6254	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948368C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.677G>A	8.37:g.145948368C>T	ENSP00000292562:p.Arg226Lys					ZNF251_ENST00000524394.1_Intron	p.R226K	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	952	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		226					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.677G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	3.268	-0.149700	0.06585	.	.	ENSG00000198169	ENST00000292562	T	0.07114	3.22	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.26517	0.07	T	0.40887	-0.9539	9	0.02654	T	1	-9.9663	8.7774	0.34769	0.0:0.7645:0.2355:0.0	.	226	Q9BRH9	ZN251_HUMAN	K	226	ENSP00000292562:R226K	ENSP00000292562:R226K	R	-	2	0	ZNF251	145919177	0.000000	0.05858	0.012000	0.15200	0.869000	0.49853	-1.503000	0.02277	1.552000	0.49463	0.563000	0.77884	AGA		0.428	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		51	51	0	0	0	1	0	51	51				
GCC2	9648	broad.mit.edu	37	2	109104168	109104168	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:109104168C>A	ENST00000309863.6	+	17	4658	c.3944C>A	c.(3943-3945)aCt>aAt	p.T1315N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1315					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAACAAGCTACTGTAACCTCT	0.348																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3943-3945)aCt>aAt		GRIP and coiled-coil domain containing 2							87.0	94.0	92.0					2																	109104168		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109104168C>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3944C>A	2.37:g.109104168C>A	ENSP00000307939:p.Thr1315Asn						p.T1315N	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			17	4658	+			1315					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3944C>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456263	0.43634	.	.	ENSG00000135968	ENST00000309863	T	0.29917	1.55	5.91	5.91	0.95273	.	0.298850	0.36778	N	0.002408	T	0.24509	0.0594	N	0.19112	0.55	0.09310	N	0.999994	B	0.14438	0.01	B	0.09377	0.004	T	0.09058	-1.0692	10	0.28530	T	0.3	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	1315	Q8IWJ2	GCC2_HUMAN	N	1315	ENSP00000307939:T1315N	ENSP00000307939:T1315N	T	+	2	0	GCC2	108470600	0.982000	0.34865	0.672000	0.29872	0.656000	0.38851	6.051000	0.71072	2.805000	0.96524	0.460000	0.39030	ACT		0.348	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		5	127	1	0	0.000602214	1	0.000615901	5	127				
MUC4	4585	broad.mit.edu	37	3	195505787	195505787	+	Missense_Mutation	SNP	C	C	T	rs11915935		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:195505787C>T	ENST00000463781.3	-	2	13123	c.12664G>A	c.(12664-12666)Gcc>Acc	p.A4222T	MUC4_ENST00000475231.1_Missense_Mutation_p.A4222T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	979					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12664-12666)Gcc>Acc		mucin 4, cell surface associated							27.0	28.0	27.0					3																	195505787		2081	4173	6254	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505787C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12664G>A	3.37:g.195505787C>T	ENSP00000417498:p.Ala4222Thr					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4222T|MUC4_ENST00000346145.4_Intron	p.A4222T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13123	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	979					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12664G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	9.614	1.132017	0.21041	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35048	1.37;1.33	1.25	-1.78	0.07957	.	.	.	.	.	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	P	0.45986	0.87	B	0.24006	0.05	T	0.19160	-1.0314	8	.	.	.	.	2.6937	0.05128	0.3974:0.3581:0.2445:0.0	rs11915935	4094	E7ESK3	.	T	4222	ENSP00000417498:A4222T;ENSP00000420243:A4222T	.	A	-	1	0	MUC4	196990566	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.565000	0.05929	-0.465000	0.06953	0.487000	0.48397	GCC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	19	0	0	0	1	0	3	19				
REG1P	5969	broad.mit.edu	37	2	79364309	79364309	+	RNA	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:79364309C>T	ENST00000444841.1	-	0	285									regenerating islet-derived 1 pseudogene																		GCTTCCCCTCCCTTCGTGAGC	0.502																																						ENST00000444841.1																			0																																																			0							g.chr2:79364309C>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79364309C>T														0	285	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.502	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		13	17	0	0	0	1	0	13	17				
KIAA0226L	80183	broad.mit.edu	37	13	47011573	47011573	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:47011573G>A	ENST00000409879.2	-	0	752							Q9H714	K226L_HUMAN	KIAA0226-like											NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGATTCTTCCGTCTTCATGCT	0.368																																						ENST00000409879.2																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26								KIAA0226-like																																						80183							g.chr13:47011573G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000409879.2:c.-309C>T	13.37:g.47011573G>A										Q9H714	CM018_HUMAN			0	752	-								A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Translation_Start_Site	SNP	ENST00000409879.2	37																																																																																						0.368	KIAA0226L-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000335435.2	NM_025113		5	8	0	0	0	1	0	5	8				
SLC15A1	6564	broad.mit.edu	37	13	99362129	99362129	+	Missense_Mutation	SNP	C	C	T	rs532061967		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:99362129C>T	ENST00000376503.5	-	12	992	c.937G>A	c.(937-939)Ggg>Agg	p.G313R		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	313					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ACGATTTTCCCGGACATAGTT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21393	0.0		0.0	False		,,,				2504	0.0					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(937-939)Ggg>Agg		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						109.0	108.0	108.0					13																	99362129		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99362129C>T	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.937G>A	13.37:g.99362129C>T	ENSP00000365686:p.Gly313Arg						p.G313R	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			12	992	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		313					Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.937G>A	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488691	0.64074	.	.	ENSG00000088386	ENST00000376503	T	0.04454	3.62	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00033	-1.2270	10	0.56958	D	0.05	-19.9778	17.2541	0.87050	0.0:1.0:0.0:0.0	.	313	P46059	S15A1_HUMAN	R	313	ENSP00000365686:G313R	ENSP00000365686:G313R	G	-	1	0	SLC15A1	98160130	1.000000	0.71417	0.708000	0.30435	0.286000	0.27126	6.970000	0.76099	2.667000	0.90743	0.561000	0.74099	GGG		0.368	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		42	65	0	0	0	1	0	42	65				
NOMO1	23420	broad.mit.edu	37	16	14980689	14980689	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:14980689C>T	ENST00000287667.7	+	28	3465	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1098						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCCTGTTCTTCCATTTCCCCC	0.473																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3292-3294)ttC>ttT		NODAL modulator 1							150.0	145.0	147.0					16																	14980689		2197	4300	6497	SO:0001819	synonymous_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980689C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3294C>T	16.37:g.14980689C>T							p.F1098F	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3465	+			1098					P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	c.3294C>T	CCDS10556.1																																																																																				0.473	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			37	64	0	0	0	1	0	37	64				
PROSER1	80209	broad.mit.edu	37	13	39603503	39603503	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:39603503C>T	ENST00000352251.3	-	4	1023	c.190G>A	c.(190-192)Gct>Act	p.A64T	PROSER1_ENST00000350125.3_Missense_Mutation_p.A42T	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	64																	GGCTGGACAGCCACCATTTTC	0.318																																						ENST00000352251.3																			0											c.(190-192)Gct>Act		proline and serine rich 1							72.0	70.0	71.0					13																	39603503		1801	4069	5870	SO:0001583	missense	80209							g.chr13:39603503C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.190G>A	13.37:g.39603503C>T	ENSP00000332034:p.Ala64Thr					PROSER1_ENST00000350125.3_Missense_Mutation_p.A42T	p.A64T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			4	1023	-			64					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.190G>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518563	0.85495	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678;ENST00000418503	T;T	0.44881	1.18;0.91	5.19	5.19	0.71726	.	.	.	.	.	T	0.50222	0.1603	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.995	T	0.45175	-0.9279	8	.	.	.	-19.3017	16.2088	0.82144	0.0:1.0:0.0:0.0	.	42;64	A6NJ97;Q86XN7	.;PRSR1_HUMAN	T	64;42;43;42	ENSP00000332034:A64T;ENSP00000339123:A42T	.	A	-	1	0	PROSER1	38501503	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.061000	0.76699	2.402000	0.81655	0.491000	0.48974	GCT		0.318	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		21	33	0	0	0	1	0	21	33				
ITGA1	3672	broad.mit.edu	37	5	52193289	52193289	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:52193289C>T	ENST00000282588.6	+	10	1552	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	365					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTATAGCCACAGCTGACCAG	0.393																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1093-1095)aCa>aTa		integrin, alpha 1							85.0	80.0	82.0					5																	52193289		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52193289C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1094C>T	5.37:g.52193289C>T	ENSP00000282588:p.Thr365Ile						p.T365I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			10	1552	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	365					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1094C>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946664	0.92593	.	.	ENSG00000213949	ENST00000282588	T	0.71579	-0.58	6.16	6.16	0.99307	.	0.051300	0.85682	D	0.000000	D	0.84547	0.5496	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.84576	0.0658	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	365	P56199	ITA1_HUMAN	I	365	ENSP00000282588:T365I	ENSP00000282588:T365I	T	+	2	0	ITGA1	52229046	1.000000	0.71417	0.877000	0.34402	0.918000	0.54935	7.373000	0.79623	2.937000	0.99478	0.650000	0.86243	ACA		0.393	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		6	6	0	0	0	1	0	6	6				
LINC00466	199899	broad.mit.edu	37	1	63699443	63699446	+	lincRNA	DEL	AAAA	AAAA	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:63699443_63699446delAAAA	ENST00000455304.2	-	0	257									long intergenic non-protein coding RNA 466																		agactgtctcaaaaaaaaaaaaaa	0.5																																						ENST00000455304.2																			0																																																			0							g.chr1:63699443_63699446delAAAA			1p31.3	2012-10-12			ENSG00000224209	ENSG00000224209		"""Long non-coding RNAs"""	27294	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_038252		Approved		uc001daw.2		OTTHUMG00000009143		1.37:g.63699451_63699454delAAAA														0	257	-									RNA	DEL	ENST00000455304.2	37																																																																																						0.500	LINC00466-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000025337.2	NR_038252		3	3						3	3	---	---	---	---
AL592494.5	0	broad.mit.edu	37	1	121141417	121141417	+	lincRNA	DEL	G	G	-	rs12132734		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:121141417delG	ENST00000417218.1	+	0	551				RP11-343N15.1_ENST00000437515.1_lincRNA																							AAAAAAAAAAGCCACCTGAAT	0.443																																						ENST00000417218.1																			0																																																			0							g.chr1:121141417delG																													1.37:g.121141417delG														0	551	+									RNA	DEL	ENST00000417218.1	37																																																																																						0.443	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			2	4						2	4	---	---	---	---
RP11-423O2.5	0	broad.mit.edu	37	1	142808478	142808478	+	lincRNA	DEL	A	A	-	rs138962217	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:142808478delA	ENST00000423385.1	-	0	88																											caggtttgttaaatatgtata	0.373													|||unknown(NO_COVERAGE)	1309	0.261382	0.2073	0.3026	5008	,	,		135825	0.244		0.2634	False		,,,				2504	0.3211					ENST00000423385.1																			0																																																			0							g.chr1:142808478delA																													1.37:g.142808478delA														0	88	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.373	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	6						4	6	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145100672	145100673	+	RNA	INS	-	-	T	rs66978014|rs66543360|rs57649793|rs137957399	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:145100672_145100673insT	ENST00000453618.1	+	0	402							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCTTGCCtttcttttttttttt	0.396																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145100672_145100673insT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145100683_145100683dupT										O75396	SC22B_HUMAN			0	402	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.396	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	5						4	5	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145101606	145101606	+	RNA	DEL	T	T	-	rs113062007	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:145101606delT	ENST00000453618.1	+	0	402							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTACAGTGCCTCTTGTAAAGT	0.358													T|T|-|deletion	942	0.188099	0.3328	0.1037	5008	,	,		59262	0.1567		0.0795	False		,,,				2504	0.1963					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145101606delT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145101606delT										O75396	SC22B_HUMAN			0	402	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.358	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		5	4						5	4	---	---	---	---
LOC101928979	101928979	broad.mit.edu	37	1	145380919	145380921	+	lincRNA	DEL	CTT	CTT	-	rs55940905	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:145380919_145380921delCTT	ENST00000433081.2	-	0	342				RNVU1-6_ENST00000364688.1_RNA																							aaatactgtgcttttttccactg	0.552														2259	0.451078	0.4387	0.438	5008	,	,		38293	0.501		0.4473	False		,,,				2504	0.4294					ENST00000419817.1																			0																																																			0							g.chr1:145380919_145380921delCTT																													1.37:g.145380919_145380921delCTT														0	307	-									RNA	DEL	ENST00000433081.2	37																																																																																						0.552	RP11-458D21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000100475.2			3	5						3	5	---	---	---	---
HIST2H2BB	338391	broad.mit.edu	37	1	149377834	149377839	+	lincRNA	DEL	TCTTTG	TCTTTG	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:149377834_149377839delTCTTTG	ENST00000415338.1	-	0	1061				HIST2H2BB_ENST00000609585.1_RNA																							GTATCTCTTCTCTTTGTCTTTTTCTG	0.461																																						ENST00000415338.1																			0																																																			0							g.chr1:149377834_149377839delTCTTTG																													1.37:g.149377834_149377839delTCTTTG														0	1061	-									RNA	DEL	ENST00000415338.1	37																																																																																						0.461	RP5-998N21.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098435.1			4	9						4	9	---	---	---	---
LINC01249	727982	broad.mit.edu	37	2	4677171	4677171	+	lincRNA	DEL	G	G	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:4677171delG	ENST00000412134.1	-	0	1303					NR_034134.1																						TGTTGCTTTTGGGCCGCAGTA	0.393																																						ENST00000412134.1																			0																																																			0							g.chr2:4677171delG																													2.37:g.4677171delG								NR_034134.1						0	1303	-									RNA	DEL	ENST00000412134.1	37																																																																																						0.393	AC022311.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323189.1			2	4						2	4	---	---	---	---
RP11-444A22.1	0	broad.mit.edu	37	2	59681584	59681585	+	lincRNA	DEL	TG	TG	-	rs145765246		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:59681584_59681585delTG	ENST00000606382.1	-	0	433																											tgtgtgtgtctgtgtgtgtgtg	0.495																																						ENST00000606382.1																			0																																																			0							g.chr2:59681584_59681585delTG																													2.37:g.59681594_59681595delTG														0	433	-									RNA	DEL	ENST00000606382.1	37																																																																																						0.495	RP11-444A22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470681.1			2	4						2	4	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65813210	65813211	+	lincRNA	DEL	TG	TG	-	rs189790685	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:65813210_65813211delTG	ENST00000377977.3	+	0	862																											GAATGATTTTTGTGTGTGTGTG	0.441																																						ENST00000377977.3																			0																																																			0							g.chr2:65813210_65813211delTG																													2.37:g.65813220_65813221delTG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.441	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	lincRNA	DEL	A	A	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:65894933delA	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TCAGAGGTTTAAAAAAAAAAA	0.517																																						ENST00000377977.3																			0																																																			0							g.chr2:65894933delA																													2.37:g.65894933delA														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.517	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			4	7						4	7	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98189040	98189041	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:98189040_98189041delAA	ENST00000332650.5	+	1	717_718	c.620_621delAA	c.(619-621)caafs	p.Q207fs		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTCAGTTCAAGTCTTTACCA	0.342																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(619-621)cfs		olfactory receptor, family 5, subfamily K, member 1																																				SO:0001589	frameshift_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189040_98189041delAA	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.620_621delAA	3.37:g.98189040_98189041delAA	ENSP00000373193:p.Gln207fs						p.Q207fs	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	717_718	+			207					B9EGY5|Q6IF46	Frame_Shift_Del	DEL	ENST00000332650.5	37	c.620_621delAA	CCDS43115.1																																																																																				0.342	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			46	70						46	70	---	---	---	---
LOC101927123	101927123	broad.mit.edu	37	3	127064187	127064196	+	lincRNA	DEL	CAAAACAAAA	CAAAACAAAA	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:127064187_127064196delCAAAACAAAA	ENST00000488425.1	-	0	309																											gagactctgtcaaaacaaaacaaaacaaaa	0.433																																						ENST00000488425.1																			0																																																			0							g.chr3:127064187_127064196delCAAAACAAAA																													3.37:g.127064197_127064206delCAAAACAAAA														0	309	-									RNA	DEL	ENST00000488425.1	37																																																																																						0.433	RP11-88I21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000356636.1			2	4						2	4	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159728365	159728366	+	RNA	INS	-	-	A	rs5853885|rs529951838	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:159728365_159728366insA	ENST00000497452.1	-	0	582				IL12A-AS1_ENST00000462431.1_RNA					IL12A antisense RNA 1																		gactccacctcaaaaaaaaaag	0.535													|||unknown(HR)	1069	0.213458	0.1853	0.2262	5008	,	,		15502	0.1389		0.3539	False		,,,				2504	0.1748					ENST00000497452.1																			0																																																			0							g.chr3:159728365_159728366insA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159728375_159728375dupA						CTD-2049J23.2_ENST00000462431.1_RNA								0	582	-									RNA	INS	ENST00000497452.1	37																																																																																						0.535	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			4	4						4	4	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAGGGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAGGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGGGAGCGGAGggag	p.304_305insRRERRE	KIAA1211_ENST00000264229.6_In_Frame_Ins_p.304_305insRRERRE|KIAA1211_ENST00000541073.1_In_Frame_Ins_p.297_298insRRERRE			Q6ZU35	K1211_HUMAN	KIAA1211	304	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733														1350	0.269569	0.2716	0.2781	5008	,	,		14300	0.0694		0.4076	False		,,,				2504	0.3252					ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(907-909)gga>gGGAGCGGAGGGAGCGGAGga		KIAA1211				903,2311		258,387,962						-10.2	0.0		dbSNP_130	6	2065,4451		612,841,1805	no	coding	KIAA1211	NM_020722.1		870,1228,2767	A1A1,A1R,RR		31.6912,28.0958,30.5036				2968,6762				SO:0001652	inframe_insertion	57482							g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	Exception_encountered	4.37:g.57180576_57180577insGGAGCGGAGGGAGCGGAG	ENSP00000423366:p.Glu304_Arg305insArgArgGluArgArgGlu					KIAA1211_ENST00000264229.6_In_Frame_Ins_p.303_303G>GSGGSGG|KIAA1211_ENST00000541073.1_In_Frame_Ins_p.296_296G>GSGGSGG	p.303_303G>GSGGSGG			Q6ZU35	K1211_HUMAN			6	1013_1014	+	Glioma(25;0.08)|all_neural(26;0.101)		303			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	c.908_909insGGAGCGGAGGGAGCGGAG	CCDS43230.1																																																																																				0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		2	4						2	4	---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185340713	185340715	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:185340713_185340715delTCT	ENST00000393593.3	-	3	302_304	c.95_97delAGA	c.(94-99)aagatt>att	p.K32del	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	32					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCTGAAAAATCTTCTTTTCCTG	0.414																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(94-99)att>a		interferon regulatory factor 2																																				SO:0001651	inframe_deletion	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340713_185340715delTCT		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.95_97delAGA	4.37:g.185340716_185340718delTCT	ENSP00000377218:p.Lys32del					IRF2_ENST00000512020.1_5'UTR	p.KI32del	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	302_304	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	32					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	In_Frame_Del	DEL	ENST00000393593.3	37	c.95_97delAGA	CCDS3835.1																																																																																				0.414	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			8	26						8	26	---	---	---	---
RP11-326I11.4	0	broad.mit.edu	37	4	185438785	185438785	+	lincRNA	DEL	T	T	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:185438785delT	ENST00000605270.1	-	0	53																											tccatttgtcttttttttttg	0.428																																						ENST00000605270.1																			0																																																			0							g.chr4:185438785delT																													4.37:g.185438785delT														0	53	-									RNA	DEL	ENST00000605270.1	37																																																																																						0.428	RP11-326I11.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470011.2			2	4						2	4	---	---	---	---
LY86-AS1	285780	broad.mit.edu	37	6	6396374	6396374	+	RNA	DEL	A	A	-	rs71671755|rs534653552|rs543331810		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:6396374delA	ENST00000435641.1	-	0	639				LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA					LY86 antisense RNA 1																		CAGAAAAAAGAAAAAAAAAAA	0.378																																						ENST00000435641.1																			0																																																			0							g.chr6:6396374delA	AK091027		6p25.1	2012-10-12	2012-08-15	2010-11-25	ENSG00000216863	ENSG00000216863		"""Long non-coding RNAs"""	26593	non-coding RNA	RNA, long non-coding			"""LY86 antisense RNA (non-protein coding)"", ""LY86 antisense RNA 1 (non-protein coding)"""	LY86AS, LY86-AS			Standard	NR_026970		Approved	FLJ33708	uc003mwx.2		OTTHUMG00000014192		6.37:g.6396374delA						LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA								0	639	-									RNA	DEL	ENST00000435641.1	37																																																																																						0.378	LY86-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000280396.1	NR_026970		3	3						3	3	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142887848	142887848	+	lincRNA	DEL	C	C	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:142887848delC	ENST00000447311.1	-	0	177					NR_027312.1																						AGCCTCTAGGCGGCGGCCAAA	0.537											OREG0017700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447311.1																			0																																																			0							g.chr6:142887848delC																													6.37:g.142887848delC			OREG0017700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1675			NR_027312.1						0	177	-									RNA	DEL	ENST00000447311.1	37																																																																																						0.537	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			2	4						2	4	---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65620328	65620329	+	IGR	DEL	AA	AA	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:65620328_65620329delAA	ENST00000395326.3	+	0	3009				RP5-1132H15.1_ENST00000435524.2_RNA	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						actctgtctcaaaaaaaaaata	0.45																																						ENST00000435524.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr7:65620328_65620329delAA	AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519		7.37:g.65620336_65620337delAA														0	29	-								A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	RNA	DEL	ENST00000395326.3	37		CCDS5532.1																																																																																				0.450	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		2	4						2	4	---	---	---	---
RP11-122C21.1	0	broad.mit.edu	37	8	92800523	92800536	+	lincRNA	DEL	ACTGGGTGGAACCC	ACTGGGTGGAACCC	-	rs200976778|rs71563474|rs55805606|rs200029479|rs200079924|rs202247619	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:92800523_92800536delACTGGGTGGAACCC	ENST00000518416.1	-	0	285																											ggaagctcgaactgggtggaacccaccacagctc	0.575														2008	0.400958	0.4123	0.3804	5008	,	,		18122	0.5823		0.3459	False		,,,				2504	0.2699					ENST00000518416.1																			0																																																			0							g.chr8:92800523_92800536delACTGGGTGGAACCC																													8.37:g.92800523_92800536delACTGGGTGGAACCC														0	285	-									RNA	DEL	ENST00000518416.1	37																																																																																						0.575	RP11-122C21.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377026.1			3	5						3	5	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66459739	66459739	+	lincRNA	DEL	G	G	-	rs141706281|rs55835826|rs140714447|rs58876961|rs61190665		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:66459739delG	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							atttctttcagtttttttttt	0.289																																						ENST00000424345.1																			0																																																			0							g.chr9:66459739delG																													9.37:g.66459739delG														0	67	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.289	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
SLC44A1	23446	broad.mit.edu	37	9	108118561	108118569	+	In_Frame_Del	DEL	CCCTGATCA	CCCTGATCA	-	rs41306484	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:108118561_108118569delCCCTGATCA	ENST00000374720.3	+	6	816_824	c.569_577delCCCTGATCA	c.(568-579)gccctgatcacc>gcc	p.LIT191del	SLC44A1_ENST00000374723.1_In_Frame_Del_p.LIT191del|SLC44A1_ENST00000374724.1_In_Frame_Del_p.LIT191del|SLC44A1_ENST00000343170.7_5'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	191					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGCAGAGGCCCTGATCACCTTTGTCAG	0.407																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(568-579)gcc>g		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)																																			SO:0001651	inframe_deletion	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108118561_108118569delCCCTGATCA	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.569_577delCCCTGATCA	9.37:g.108118561_108118569delCCCTGATCA	ENSP00000363852:p.Leu191_Thr193del					SLC44A1_ENST00000374723.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000374724.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000343170.7_5'UTR	p.ALIT190del	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			6	816_824	+			190					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	In_Frame_Del	DEL	ENST00000374720.3	37	c.569_577delCCCTGATCA	CCDS6763.1																																																																																				0.407	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		9	40						9	40	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135946988	135946988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:135946988delC	ENST00000372080.4	+	11	2124	c.2108delC	c.(2107-2109)gccfs	p.A703fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.A634fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	700	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACTCCGGGGCCCCCCCCGTG	0.821																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2107-2109)gcfs		carboxyl ester lipase				23,22,1847		4,0,15,6,10,911	2.0	3.0	3.0			1.6	0.0	9		3	60,92,4474		6,0,48,20,52,2187	no	codingComplex	CEL	NM_001807.3		10,0,63,26,62,3098	A1A1,A1A2,A1R,A2A2,A2R,RR		3.2858,2.3784,3.0224			135946988	83,114,6321	1105	2639	3744	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946988delC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2108delC	9.37:g.135946988delC	ENSP00000361151:p.Ala703fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.A634fs	p.A703fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2124	+			700			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.2108delC	CCDS43896.1																																																																																				0.821	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			3	4						3	4	---	---	---	---
RP1-228P16.4	0	broad.mit.edu	37	12	48407125	48407126	+	RNA	INS	-	-	A	rs147630209|rs398019435|rs112412967|rs140810386|rs11390163		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:48407125_48407126insA	ENST00000546738.1	+	0	255				RP1-228P16.3_ENST00000552958.1_lincRNA																							aatcttaattgaaaaaaaaaaa	0.406																																						ENST00000546738.1																			0																																																			0							g.chr12:48407125_48407126insA																													12.37:g.48407136_48407136dupA														0	255	+									RNA	INS	ENST00000546738.1	37																																																																																						0.406	RP1-228P16.4-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000406466.1			3	3						3	3	---	---	---	---
LOC101927267	101927267	broad.mit.edu	37	12	49697463	49697463	+	RNA	DEL	C	C	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:49697463delC	ENST00000553259.1	-	0	365																											ccgtgatccgcccgcctcagc	0.493																																						ENST00000553259.1																			0																																																			0							g.chr12:49697463delC																													12.37:g.49697463delC														0	365	-									RNA	DEL	ENST00000553259.1	37																																																																																						0.493	RP11-161H23.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000405659.1			2	4						2	4	---	---	---	---
MAP1LC3B2	643246	broad.mit.edu	37	12	116990571	116990572	+	lincRNA	DEL	CC	CC	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:116990571_116990572delCC	ENST00000547114.1	+	0	645																											GGTTAATAAGCCCCCAGGAGAG	0.609																																						ENST00000547114.1																			0																																																			0							g.chr12:116990571_116990572delCC																													12.37:g.116990573_116990574delCC														0	645	+									RNA	DEL	ENST00000547114.1	37																																																																																						0.609	RP11-809C9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403851.1			2	4						2	4	---	---	---	---
GUCY1B2	2974	broad.mit.edu	37	13	51579823	51579823	+	RNA	DEL	A	A	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:51579823delA	ENST00000493639.2	-	0	2246					NR_003923.2		O75343	GCYB2_HUMAN	guanylate cyclase 1, soluble, beta 2 (pseudogene)						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)										GTGTGGGGTTACAGCCAGGCA	0.557																																						ENST00000493639.2																			0																																																			0							g.chr13:51579823delA	AF038499		13q14.3	2012-04-19	2012-04-19		ENSG00000123201	ENSG00000123201	4.6.1.2		4686	pseudogene	pseudogene		603695	"""guanylate cyclase 1, soluble, beta 2"""			9889008, 10449911	Standard	NR_003923		Approved	GC-SB2	uc010tgo.2	O75343	OTTHUMG00000016940		13.37:g.51579823delA								NR_003923.2						0	2246	-								Q9NZ64	RNA	DEL	ENST00000493639.2	37																																																																																						0.557	GUCY1B2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000045014.3			2	4						2	4	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71067484	71067504	+	5'Flank	DEL	GGCAGGAGAGAGGCAGGGGGT	GGCAGGAGAGAGGCAGGGGGT	-	rs150061450|rs554135173	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	ENST00000256379.5	-	0	0				MED6_ENST00000430055.2_5'Flank|MED6_ENST00000556044.1_5'Flank|MED6_ENST00000554963.1_5'Flank|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000440435.2_5'Flank	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6						gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		gggcggggcgggcaggagagaggcagggggtggaggtgcgg	0.71														1000	0.199681	0.1384	0.0994	5008	,	,		5273	0.4812		0.1054	False		,,,				2504	0.1605					ENST00000553982.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252		14.37:g.71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	Exception_encountered													0	294	-								B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	RNA	DEL	ENST00000256379.5	37		CCDS9805.1																																																																																				0.710	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		3	4						3	4	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78215586	78215587	+	lincRNA	INS	-	-	T	rs371932549	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr15:78215586_78215587insT	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							AAAATGAGAAATTTAAAAAAAA	0.441													tt|TTT|TTTT|cryptic_indel	51	0.0101837	0.0333	0.0029	5008	,	,		18873	0.001		0.001	False		,,,				2504	0.0031					ENST00000567226.1																			0																																																			0							g.chr15:78215586_78215587insT																													15.37:g.78215589_78215589dupT														0	225	-									RNA	INS	ENST00000565869.1	37																																																																																						0.441	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	4						4	4	---	---	---	---
SLC6A10PB	653562	broad.mit.edu	37	16	32896096	32896100	+	lincRNA	DEL	GAGGG	GAGGG	-	rs370744350		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:32896096_32896100delGAGGG	ENST00000398669.2	+	0	0				SLC6A10P_ENST00000330048.5_RNA																							ggagggctgcgaggggaggggaggg	0.683																																						ENST00000330048.5																			0																																																			0							g.chr16:32896096_32896100delGAGGG																													16.37:g.32896106_32896110delGAGGG								NR_003083.2						0	233	-									RNA	DEL	ENST00000398669.2	37																																																																																						0.683	RP11-989E6.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432084.1			2	4						2	4	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29589314	29589314	+	RNA	DEL	A	A	-	rs140383001		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr20:29589314delA	ENST00000432067.1	-	0	152																											tgcatcctgtaagttttgttg	0.318																																						ENST00000432067.1																			0																																																			0							g.chr20:29589314delA																													20.37:g.29589314delA														0	152	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.318	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			5	4						5	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11050147	11050147	+	RNA	DEL	G	G	-	rs200649821|rs456941	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr21:11050147delG	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTTTTTTTTGATTACTGGAA	0.274													?|G|-|unsure	65	0.0129792	0.0234	0.0043	5008	,	,		92098	0.0099		0.007	False		,,,				2504	0.0143					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11050147delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11050147delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.274	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	4						6	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11051168	11051168	+	RNA	DEL	T	T	-	rs59377780		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr21:11051168delT	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agaccttttgtttttatttac	0.393																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11051168delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11051168delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11055621	11055621	+	RNA	DEL	A	A	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr21:11055621delA	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtatcattTTAAAAGCATAAA	0.274																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11055621delA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11055621delA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.274	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	4						4	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11072388	11072389	+	RNA	INS	-	-	T	rs139874484|rs140345115		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr21:11072388_11072389insT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tggttcacgccgtgattccagc	0.505																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11072388_11072389insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11072388_11072389insT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.505	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
MIATNB	102724827	broad.mit.edu	37	22	27113997	27113997	+	lincRNA	DEL	C	C	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr22:27113997delC	ENST00000437071.1	+	0	183																											gcctcagtctccagatggctc	0.468																																						ENST00000437071.1																			0																																																			0							g.chr22:27113997delC																													22.37:g.27113997delC														0	183	+									RNA	DEL	ENST00000437071.1	37																																																																																						0.468	CTA-211A9.5-007	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000320774.1			2	4						2	4	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50719352	50719360	+	In_Frame_Del	DEL	TGCCGGCCT	TGCCGGCCT	-	rs199976514		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr22:50719352_50719360delTGCCGGCCT	ENST00000449103.1	-	24	3946_3954	c.3806_3814delAGGCCGGCA	c.(3805-3816)gaggccggcatc>gtc	p.1269_1272EAGI>V	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_In_Frame_Del_p.1269_1272EAGI>V			O15031	PLXB2_HUMAN	plexin B2	1269					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCACGGGGATGCCGGCCTCGTGCACGTC	0.646																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3805-3816)gtc>g		plexin B2																																				SO:0001651	inframe_deletion	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719352_50719360delTGCCGGCCT		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3806_3814delAGGCCGGCA	22.37:g.50719352_50719360delTGCCGGCCT	ENSP00000409171:p.Glu1269_Ile1272delinsVal					PLXNB2_ENST00000359337.4_In_Frame_Del_p.EAGI1269del	p.EAGI1269del			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	3946_3954	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1269					A6QRH0|Q7KZU3|Q9BSU7	In_Frame_Del	DEL	ENST00000449103.1	37	c.3806_3814delAGGCCGGCA	CCDS43035.1																																																																																				0.646	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		24	5						24	5	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	90						7	90	---	---	---	---
