#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
PCDHA2	56146	broad.mit.edu	37	5	140176511	140176511	+	Silent	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140176511C>T	ENST00000526136.1	+	1	1962	c.1962C>T	c.(1960-1962)caC>caT	p.H654H	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.H654H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.H654H	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	654	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGACCACGGCGAACCAG	0.667																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1960-1962)caC>caT									73.0	72.0	72.0					5																	140176511		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176511C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1962C>T	5.37:g.140176511C>T						PCDHA2_ENST00000520672.2_Silent_p.H654H|PCDHA2_ENST00000378132.1_Silent_p.H654H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.H654H	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1962	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1962C>T	CCDS54914.1																																																																																				0.667	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		4	141	0	0	0	1	0	4	141				
CTDNEP1	23399	broad.mit.edu	37	17	7150176	7150176	+	Silent	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7150176T>C	ENST00000573600.1	-	5	715	c.294A>G	c.(292-294)gtA>gtG	p.V98V	CTDNEP1_ENST00000318988.6_Silent_p.V98V|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000574322.1_Silent_p.V98V|RP1-4G17.5_ENST00000577138.1_3'UTR			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	98	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTGTCTATTACCACCTACA	0.512																																						ENST00000573600.1																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gtA>gtG		CTD nuclear envelope phosphatase 1							114.0	131.0	125.0					17																	7150176		2202	4299	6501	SO:0001819	synonymous_variant	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7150176T>C	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.294A>G	17.37:g.7150176T>C						CTDNEP1_ENST00000574322.1_Silent_p.V98V|CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000318988.6_Silent_p.V98V|RP1-4G17.5_ENST00000577138.1_3'UTR	p.V98V			O95476	CNEP1_HUMAN			5	715	-			98			FCP1 homology.		D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	37	c.294A>G	CCDS11093.1																																																																																				0.512	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		154	166	0	0	0	1	0	154	166				
IL12RB1	3594	broad.mit.edu	37	19	18184406	18184406	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:18184406T>G	ENST00000600835.2	-	9	1002	c.704A>C	c.(703-705)aAc>aCc	p.N235T	IL12RB1_ENST00000322153.7_Missense_Mutation_p.N235T|IL12RB1_ENST00000593993.2_Missense_Mutation_p.N235T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	235					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGTGGGGGGTTTTCTGCAAT	0.512																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(703-705)aAc>aCc		interleukin 12 receptor, beta 1							34.0	31.0	32.0					19																	18184406		2203	4300	6503	SO:0001583	missense	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18184406T>G	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.704A>C	19.37:g.18184406T>G	ENSP00000470788:p.Asn235Thr					IL12RB1_ENST00000322153.6_Missense_Mutation_p.N235T|IL12RB1_ENST00000593993.1_Missense_Mutation_p.N235T|IL12RB1_ENST00000430026.2_Missense_Mutation_p.N235T	p.N235T			P42701	I12R1_HUMAN			9	1007	-			235			Fibronectin type-III 2.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.704A>C	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.789149	0.00623	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.57273	0.41;0.41	3.06	-6.12	0.02124	.	3.476630	0.01080	N	0.004970	T	0.30008	0.0751	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.005	B;B;B	0.12156	0.007;0.002;0.003	T	0.29579	-1.0007	10	0.13470	T	0.59	0.005	0.8388	0.01145	0.3736:0.1015:0.2224:0.3026	.	235;235;235	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	T	235	ENSP00000403103:N235T;ENSP00000314425:N235T	ENSP00000314425:N235T	N	-	2	0	IL12RB1	18045406	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.131000	0.00148	-2.977000	0.00284	-0.396000	0.06452	AAC		0.512	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			7	28	0	0	0	1	0	7	28				
SPG7	6687	broad.mit.edu	37	16	89620236	89620236	+	Silent	SNP	C	C	T	rs140356355	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:89620236C>T	ENST00000268704.2	+	15	1986	c.1971C>T	c.(1969-1971)atC>atT	p.I657I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	657					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCACCCGCATCGCCTACTCCA	0.677																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1969-1971)atC>atT		spastic paraplegia 7 (pure and complicated autosomal recessive)		T		0,4396		0,0,2198	96.0	75.0	82.0		1971	-10.1	0.0	16	dbSNP_134	82	1,8599		0,1,4299	no	coding-synonymous	SPG7	NM_003119.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		657/796	89620236	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89620236C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1971C>T	16.37:g.89620236C>T							p.I657I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	15	1986	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	657					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1971C>T	CCDS10977.1																																																																																				0.677	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		34	115	0	0	0	1	0	34	115				
OR2T12	127064	broad.mit.edu	37	1	248458438	248458438	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:248458438A>G	ENST00000317996.1	-	1	442	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L148H(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612																																						ENST00000317996.1																			1	Substitution - Missense(1)	p.L148H(1)	ovary(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(442-444)cTc>cCc		olfactory receptor, family 2, subfamily T, member 12							59.0	67.0	64.0					1																	248458438		2176	4297	6473	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458438A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.443T>C	1.37:g.248458438A>G	ENSP00000324583:p.Leu148Pro						p.L148P	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	442	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		148						Missense_Mutation	SNP	ENST00000317996.1	37	c.443T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	12.08	1.829802	0.32329	.	.	ENSG00000177201	ENST00000317996	T	0.45276	0.9	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.729752	0.11158	U	0.593361	T	0.67534	0.2903	M	0.93241	3.395	0.44985	D	0.998008	D	0.57257	0.979	D	0.65573	0.936	T	0.66340	-0.5948	10	0.87932	D	0	.	6.3786	0.21521	0.6446:0.3553:0.0:0.0	.	148	Q8NG77	O2T12_HUMAN	P	148	ENSP00000324583:L148P	ENSP00000324583:L148P	L	-	2	0	OR2T12	246525061	0.000000	0.05858	0.077000	0.20336	0.209000	0.24338	0.557000	0.23454	0.540000	0.28808	0.147000	0.16070	CTC		0.612	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		63	71	0	0	0	1	0	63	71				
ZNF560	147741	broad.mit.edu	37	19	9577986	9577986	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:9577986C>T	ENST00000301480.4	-	10	1850	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTTCTTACATTGATAGAG	0.398																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1636-1638)tGt>tAt		zinc finger protein 560							96.0	93.0	94.0					19																	9577986		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577986C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1637G>A	19.37:g.9577986C>T	ENSP00000301480:p.Cys546Tyr						p.C546Y	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1850	-			546					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1637G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111176	0.37242	.	.	ENSG00000198028	ENST00000301480	D	0.85088	-1.94	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91520	0.7322	M	0.83012	2.62	0.29984	N	0.817448	D	0.89917	1.0	D	0.97110	1.0	D	0.85618	0.1262	9	0.87932	D	0	.	10.1291	0.42667	0.0:1.0:0.0:0.0	.	546	Q96MR9	ZN560_HUMAN	Y	546	ENSP00000301480:C546Y	ENSP00000301480:C546Y	C	-	2	0	ZNF560	9438986	0.987000	0.35691	0.012000	0.15200	0.006000	0.05464	3.711000	0.54868	1.446000	0.47643	0.491000	0.48974	TGT		0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		58	72	0	0	0	1	0	58	72				
LRRC16A	55604	broad.mit.edu	37	6	25517626	25517626	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:25517626A>G	ENST00000329474.6	+	22	2225	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	619					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCAGGATATAGCTGTTGCTA	0.313																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1855-1857)atA>atG		leucine rich repeat containing 16A							114.0	108.0	110.0					6																	25517626		1839	4090	5929	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25517626A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1857A>G	6.37:g.25517626A>G	ENSP00000331983:p.Ile619Met						p.I619M	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			22	2225	+			619					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1857A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667034	0.67814	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.58652	0.32	5.94	1.87	0.25490	.	0.043726	0.85682	D	0.000000	T	0.51822	0.1697	L	0.45352	1.415	0.80722	D	1	D;D;D	0.69078	0.992;0.992;0.997	P;P;D	0.65874	0.871;0.871;0.939	T	0.56135	-0.8029	10	0.87932	D	0	.	8.5911	0.33688	0.4891:0.3868:0.0:0.1241	.	619;619;619	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	M	619	ENSP00000331983:I619M	ENSP00000331983:I619M	I	+	3	3	LRRC16A	25625605	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.353000	0.44089	0.445000	0.26639	0.459000	0.35465	ATA		0.313	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		23	41	0	0	0	1	0	23	41				
RUFY1	80230	broad.mit.edu	37	5	178996303	178996303	+	Splice_Site	SNP	C	C	T	rs141995707		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:178996303C>T	ENST00000319449.4	+	5	717	c.705C>T	c.(703-705)agC>agT	p.S235S	RUFY1_ENST00000393438.2_Splice_Site_p.S127S|RUFY1_ENST00000377001.2_Splice_Site_p.S235S|RUFY1_ENST00000437570.2_Splice_Site_p.S127S	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	235	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTTTCAGCGAGTTCTATG	0.527										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.e5-1		RUN and FYVE domain containing 1							280.0	239.0	253.0					5																	178996303		2203	4300	6503	SO:0001630	splice_region_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178996303C>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.705-1C>T	5.37:g.178996303C>T		HNSCC(44;0.11)				RUFY1_ENST00000319449.4_Splice_Site_p.S235_splice|RUFY1_ENST00000437570.2_Splice_Site_p.S127_splice|RUFY1_ENST00000393438.2_Splice_Site_p.S127_splice	p.S235_splice			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	705	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	235			RUN.		Q59FF3|Q71S93|Q9H6I3	Splice_Site	SNP	ENST00000319449.4	37	c.704_splice	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191873	0.21954	.	.	ENSG00000176783	ENST00000502984;ENST00000508609	.	.	.	5.04	1.1	0.20463	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45963	-0.9225	4	.	.	.	.	8.5711	0.33569	0.0:0.2257:0.0:0.7743	.	.	.	.	V	193;46	.	.	A	+	2	0	RUFY1	178928909	1.000000	0.71417	0.982000	0.44146	0.461000	0.32589	2.713000	0.47194	0.053000	0.16036	-0.459000	0.05422	GCG		0.527	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	Silent	6	173	0	0	0	1	0	6	173				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	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"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		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.chr17:7578190T>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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	p.Y220C	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)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	5	0	0	0	1	0	45	5				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	98	0	0	0	1	0	4	98				
MRPS27	23107	broad.mit.edu	37	5	71593520	71593520	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:71593520G>C	ENST00000261413.5	-	3	200	c.161C>G	c.(160-162)gCa>gGa	p.A54G	MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000457646.4_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	54						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CATTAAAGATGCAAGATCAGC	0.294																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(160-162)gCa>gGa		mitochondrial ribosomal protein S27							28.0	29.0	29.0					5																	71593520		2200	4288	6488	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71593520G>C	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.161C>G	5.37:g.71593520G>C	ENSP00000261413:p.Ala54Gly					MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000457646.4_5'UTR	p.A54G	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	3	200	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	54					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.161C>G	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711227	0.68730	.	.	ENSG00000113048	ENST00000261413;ENST00000513900;ENST00000522095	T;T;T	0.56941	0.43;0.43;0.43	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.69823	2.125	0.51012	D	0.999908	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.67256	-0.5716	10	0.31617	T	0.26	-10.2206	15.404	0.74863	0.0:0.0:1.0:0.0	.	54;54	B4DRT2;Q92552	.;RT27_HUMAN	G	54	ENSP00000261413:A54G;ENSP00000426941:A54G;ENSP00000430590:A54G	ENSP00000261413:A54G	A	-	2	0	MRPS27	71629276	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.745000	0.74860	2.609000	0.88269	0.563000	0.77884	GCA		0.294	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		4	14	0	0	0	1	0	4	14				
TTF1	7270	broad.mit.edu	37	9	135275446	135275446	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:135275446G>A	ENST00000334270.2	-	3	1606	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	523					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCTTAAACCGTTCCAAGTCG	0.468																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1567-1569)Cgg>Tgg		transcription termination factor, RNA polymerase I							170.0	158.0	162.0					9																	135275446		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275446G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1567C>T	9.37:g.135275446G>A	ENSP00000333920:p.Arg523Trp						p.R523W	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1606	-		Myeloproliferative disorder(178;0.204)	523					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1567C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593613	0.28445	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.23348	1.91	5.14	3.3	0.37823	.	0.087366	0.46145	D	0.000309	T	0.42040	0.1185	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.16217	-1.0410	10	0.54805	T	0.06	.	6.6144	0.22769	0.0912:0.0:0.7314:0.1774	.	523	Q15361	TTF1_HUMAN	W	523	ENSP00000333920:R523W	ENSP00000245588:R523W	R	-	1	2	TTF1	134265267	0.967000	0.33354	0.003000	0.11579	0.044000	0.14063	2.988000	0.49386	0.584000	0.29591	-0.217000	0.12591	CGG		0.468	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		24	114	0	0	0	1	0	24	114				
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs200646249		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A3V(3)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCGCAGGGCGGGCATCTT	0.746			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		3	Substitution - Missense(3)	p.A3V(3)	prostate(2)|lung(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7-9)gCc>gTc		notch 2																																				SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612013G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.8C>T	1.37:g.120612013G>A	ENSP00000256646:p.Ala3Val						p.A3V	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	227	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	3					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.8C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843499	0.51057	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	2.9	0.774	0.18521	.	.	.	.	.	T	0.62636	0.2444	N	0.19112	0.55	0.23776	N	0.996877	D;D	0.57571	0.98;0.98	P;P	0.53988	0.739;0.739	T	0.56323	-0.7998	9	0.72032	D	0.01	.	8.5976	0.33725	0.0:0.4687:0.5313:0.0	.	3;3	Q6IQ50;Q04721	.;NOTC2_HUMAN	V	3	ENSP00000256646:A3V	ENSP00000256646:A3V	A	-	2	0	NOTCH2	120413536	1.000000	0.71417	0.999000	0.59377	0.618000	0.37518	0.744000	0.26245	0.074000	0.16767	0.184000	0.17185	GCC		0.746	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	33	0	0	0	1	0	3	33				
ZAN	7455	broad.mit.edu	37	7	100363082	100363082	+	RNA	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:100363082G>T	ENST00000348028.3	+	0	4540				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGCGTGGAGGCCTGTGAATG	0.612																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							52.0	55.0	54.0					7																	100363082		2123	4250	6373			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363082G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363082G>T						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4523	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	32	5.191417	0.94923	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.99	3.99	0.46301	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.593650	0.14038	N	0.345606	T	0.65974	0.2743	N	0.12527	0.23	0.27069	N	0.963377	P;P	0.38827	0.597;0.649	B;B	0.42163	0.26;0.378	T	0.62840	-0.6769	10	0.59425	D	0.04	.	12.2723	0.54712	0.0:0.0:1.0:0.0	.	1459;1459	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1459;1459;1459;36	ENSP00000445943:A1459S;ENSP00000445091:A1459S;ENSP00000444427:A1459S;ENSP00000441117:A36S	ENSP00000423579:A1459S	A	+	1	0	ZAN	100201018	1.000000	0.71417	0.991000	0.47740	0.602000	0.36980	5.830000	0.69324	2.183000	0.69458	0.462000	0.41574	GCC		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	36	1	0	0.000151284	1	0.000153542	13	36				
CCDC108	255101	broad.mit.edu	37	2	219868765	219868765	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:219868765A>T	ENST00000341552.5	-	33	5547	c.5464T>A	c.(5464-5466)Tcc>Acc	p.S1822T	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1822	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCTGGGACTCAGGCTGT	0.577																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5464-5466)Tcc>Acc		coiled-coil domain containing 108							254.0	239.0	244.0					2																	219868765		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219868765A>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5464T>A	2.37:g.219868765A>T	ENSP00000340776:p.Ser1822Thr					AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T	p.S1822T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5547	-		Renal(207;0.0915)	1822			Glu-rich.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.5464T>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117275	0.20795	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.08102	3.13;3.13;3.13	4.42	3.17	0.36434	.	0.509560	0.14844	N	0.295110	T	0.10121	0.0248	M	0.62723	1.935	0.19575	N	0.999965	P	0.46512	0.879	B	0.42916	0.402	T	0.20207	-1.0282	10	0.49607	T	0.09	-20.4007	4.8545	0.13552	0.7059:0.19:0.1041:0.0	.	1822	Q6ZU64	CC108_HUMAN	T	1822	ENSP00000340776:S1822T;ENSP00000413377:S1822T;ENSP00000409117:S1822T	ENSP00000340776:S1822T	S	-	1	0	CCDC108	219577009	0.372000	0.25064	0.028000	0.17463	0.010000	0.07245	0.641000	0.24720	1.760000	0.52011	0.459000	0.35465	TCC		0.577	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		133	137	0	0	0	1	0	133	137				
PPAN	56342	broad.mit.edu	37	19	10220614	10220614	+	Missense_Mutation	SNP	G	G	A	rs149200523	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:10220614G>A	ENST00000253107.7	+	7	722	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	P2RY11_ENST00000321826.4_5'Flank|SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.A153T	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	206	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCCTGTGGGCGCGAGTCGCGG	0.627																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(616-618)Gcg>Acg				G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121.0	125.0	123.0		616,616,616	5.3	0.5	19	dbSNP_134	123	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense,missense	PPAN,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_020230.5	58,58,58	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	possibly-damaging,possibly-damaging,possibly-damaging	206/795,206/521,206/474	10220614	11,12995	2203	4300	6503	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10220614G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.616G>A	19.37:g.10220614G>A	ENSP00000253107:p.Ala206Thr					PPAN_ENST00000393793.1_Missense_Mutation_p.A153T|PPAN_ENST00000253107.7_Missense_Mutation_p.A206T|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T	p.A206T	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		7	788	+			206			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.616G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.825051	0.71143	2.27E-4	0.001163	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.33	5.33	0.75918	Brix domain (3);	.	.	.	.	T	0.29061	0.0722	L	0.32530	0.975	0.36017	D	0.838459	D;D;D	0.69078	0.997;0.988;0.988	P;P;P	0.55260	0.772;0.645;0.645	T	0.20306	-1.0279	9	0.42905	T	0.14	-21.1208	8.2751	0.31868	0.1707:0.0:0.8293:0.0	.	206;206;206	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	T	206;206;206;206;206;153;144	ENSP00000411918:A206T;ENSP00000377385:A206T;ENSP00000253107:A206T;ENSP00000450710:A206T;ENSP00000377382:A153T;ENSP00000410485:A144T	ENSP00000253107:A206T	A	+	1	0	PPAN;PPAN-P2RY11	10081614	0.377000	0.25106	0.537000	0.28052	0.539000	0.34962	2.079000	0.41577	2.503000	0.84419	0.561000	0.74099	GCG		0.627	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		7	280	0	0	0	1	0	7	280				
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	C	T	rs199819876	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:195505814C>T	ENST00000463781.3	-	2	13096	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N	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)	p.D4213N(1)		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)		GAGGAAGTGTCGGTGACAGGA	0.597													.|||	95	0.0189696	0.0151	0.0187	5008	,	,		14244	0.0169		0.0308	False		,,,				2504	0.0143					ENST00000463781.3																			1	Substitution - Missense(1)	p.D4213N(1)	endometrium(1)	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.(12637-12639)Gac>Aac		mucin 4, cell surface associated							24.0	21.0	22.0					3																	195505814		690	1577	2267	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.chr3:195505814C>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.12637G>A	3.37:g.195505814C>T	ENSP00000417498:p.Asp4213Asn					MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.D4213N	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	13096	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					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.12637G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.070	-1.204716	0.01568	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.49	.	.	.	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.06405	0.002	T	0.24083	-1.0170	7	.	.	.	.	4.5334	0.12017	0.0:0.668:0.0:0.332	.	4085	E7ESK3	.	N	4213	ENSP00000417498:D4213N;ENSP00000420243:D4213N	.	D	-	1	0	MUC4	196990593	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-1.791000	0.01261	-1.780000	0.00649	GAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	13	0	0	0	1	0	3	13				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	18	0	0	0	1	0	4	18				
OR51Q1	390061	broad.mit.edu	37	11	5444223	5444223	+	Missense_Mutation	SNP	C	C	T	rs376977023		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:5444223C>T	ENST00000300778.4	+	1	883	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACTCATCGCTTTGCCAA	0.517																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(793-795)Cgc>Tgc		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)		C	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	134.0	110.0	118.0		793	4.1	0.8	11		118	0,8594		0,0,4297	no	missense	OR51Q1	NM_001004757.2	180	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	265/318	5444223	2,12994	2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444223C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.793C>T	11.37:g.5444223C>T	ENSP00000300778:p.Arg265Cys					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.R265C	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	883	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	265					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.793C>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008859	0.35415	4.54E-4	0.0	ENSG00000167360	ENST00000300778	T	0.37411	1.2	5.0	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.45013	0.1321	M	0.89715	3.055	0.36616	D	0.875486	P	0.38535	0.635	B	0.35114	0.196	T	0.63129	-0.6706	10	0.87932	D	0	.	11.5665	0.50809	0.3238:0.6762:0.0:0.0	.	265	Q8NH59	O51Q1_HUMAN	C	265	ENSP00000300778:R265C	ENSP00000300778:R265C	R	+	1	0	OR51Q1	5400799	0.000000	0.05858	0.773000	0.31616	0.954000	0.61252	-0.604000	0.05667	1.318000	0.45170	0.380000	0.24917	CGC		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		26	47	0	0	0	1	0	26	47				
ST3GAL1	6482	broad.mit.edu	37	8	134488257	134488257	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134488257A>G	ENST00000319914.5	-	4	1038	c.11T>C	c.(10-12)cTg>cCg	p.L4P	ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	4					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCTTCCGCAGGGTCACCAT	0.552																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(10-12)cTg>cCg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							73.0	76.0	75.0					8																	134488257		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488257A>G	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.11T>C	8.37:g.134488257A>G	ENSP00000318445:p.Leu4Pro					ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P	p.L4P			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1038	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		4					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.11T>C	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564611	0.27915	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634;ENST00000519924;ENST00000523855	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.55	-1.1	0.09872	.	1.570580	0.03050	N	0.154487	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23691	-1.0181	10	0.36615	T	0.2	-4.3206	4.7748	0.13173	0.5944:0.0:0.2745:0.1311	.	4	Q11201	SIA4A_HUMAN	P	4	ENSP00000318445:L4P;ENSP00000414073:L4P;ENSP00000428540:L4P;ENSP00000430515:L4P	ENSP00000318445:L4P	L	-	2	0	ST3GAL1	134557439	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.462000	0.21956	-0.419000	0.07439	0.459000	0.35465	CTG		0.552	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		35	70	0	0	0	1	0	35	70				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	302	0	0	0	1	0	5	302				
TMPRSS11F	389208	broad.mit.edu	37	4	68935722	68935722	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:68935722A>C	ENST00000356291.2	-	6	577	c.518T>G	c.(517-519)aTt>aGt	p.I173S	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	173	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTGCTGTCAATAGCTGGAAT	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(517-519)aTt>aGt		transmembrane protease, serine 11F							146.0	149.0	148.0					4																	68935722		2202	4298	6500	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68935722A>C	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.518T>G	4.37:g.68935722A>C	ENSP00000348639:p.Ile173Ser					RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA	p.I173S	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			6	577	-			173			SEA.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.518T>G	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956566	0.73902	.	.	ENSG00000198092	ENST00000356291	T	0.34275	1.37	5.96	5.96	0.96718	SEA (2);	0.000000	0.56097	D	0.000026	T	0.52725	0.1752	M	0.72894	2.215	0.42482	D	0.99286	D	0.71674	0.998	P	0.59115	0.852	T	0.51826	-0.8656	10	0.31617	T	0.26	.	12.8299	0.57740	1.0:0.0:0.0:0.0	.	173	Q6ZWK6	TM11F_HUMAN	S	173	ENSP00000348639:I173S	ENSP00000348639:I173S	I	-	2	0	TMPRSS11F	68618317	0.989000	0.36119	0.995000	0.50966	0.851000	0.48451	3.262000	0.51538	2.280000	0.76307	0.533000	0.62120	ATT		0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		31	79	0	0	0	1	0	31	79				
PCDHA1	56147	broad.mit.edu	37	5	140167485	140167485	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140167485C>T	ENST00000504120.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A537V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGGGATGCG	0.677																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1609-1611)gCg>gTg									60.0	65.0	64.0					5																	140167485		2203	4298	6501	SO:0001583	missense	0							g.chr5:140167485C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1610C>T	5.37:g.140167485C>T	ENSP00000420840:p.Ala537Val					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000394633.3_Intron	p.A537V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1610C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	19.58	3.853720	0.71719	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.73363	-0.74;-0.74	3.49	3.49	0.39957	Cadherin (5);Cadherin-like (1);	0.196416	0.24357	U	0.039223	D	0.83166	0.5195	M	0.75085	2.285	0.46499	D	0.999073	D;D	0.89917	1.0;0.994	P;P	0.59487	0.858;0.808	D	0.86403	0.1743	10	0.72032	D	0.01	.	15.4054	0.74874	0.0:1.0:0.0:0.0	.	537;537	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	537	ENSP00000420840:A537V;ENSP00000367373:A537V	ENSP00000367373:A537V	A	+	2	0	PCDHA1	140147669	1.000000	0.71417	0.999000	0.59377	0.482000	0.33219	4.495000	0.60353	1.676000	0.50930	0.549000	0.68633	GCG		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		16	296	0	0	0	1	0	16	296				
DNASE1L3	1776	broad.mit.edu	37	3	58190566	58190566	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:58190566G>C	ENST00000394549.2	-	4	679	c.363C>G	c.(361-363)gaC>gaG	p.D121E	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.D121E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	121					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCTGATAGTCATGGTAGT	0.493																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(361-363)gaC>gaG		deoxyribonuclease I-like 3							131.0	117.0	121.0					3																	58190566		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58190566G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.363C>G	3.37:g.58190566G>C	ENSP00000378053:p.Asp121Glu					DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E	p.D121E			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	6	944	-			121					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.363C>G	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030744	0.35797	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.4	3.57	0.40892	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.80982	2.52	0.40712	D	0.982585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.70868	-0.4755	10	0.62326	D	0.03	.	10.9517	0.47334	0.1768:0.0:0.8232:0.0	.	91;121;121	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	E	91;121;121;121;121;121	ENSP00000419052:D91E;ENSP00000316193:D121E;ENSP00000417047:D121E;ENSP00000378053:D121E;ENSP00000418113:D121E	ENSP00000316193:D121E	D	-	3	2	DNASE1L3	58165606	0.464000	0.25807	0.988000	0.46212	0.045000	0.14185	0.887000	0.28254	2.529000	0.85273	0.655000	0.94253	GAC		0.493	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		12	54	0	0	0	1	0	12	54				
STK38L	23012	broad.mit.edu	37	12	27467498	27467498	+	Silent	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:27467498C>T	ENST00000389032.3	+	7	748	c.579C>T	c.(577-579)taC>taT	p.Y193Y	STK38L_ENST00000539577.1_Silent_p.Y100Y	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CACAGTTCTACATTTCAGAGA	0.383																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(577-579)taC>taT		serine/threonine kinase 38 like							117.0	105.0	109.0					12																	27467498		2203	4300	6503	SO:0001819	synonymous_variant	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27467498C>T	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.579C>T	12.37:g.27467498C>T						STK38L_ENST00000539577.1_Silent_p.Y100Y	p.Y193Y	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			7	748	+	Colorectal(261;0.0847)		193			Protein kinase.			Silent	SNP	ENST00000389032.3	37	c.579C>T	CCDS31761.1																																																																																				0.383	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		9	43	0	0	0	1	0	9	43				
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C	rs562396488	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	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)	p.D4213G(2)		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)		TGAGGAAGTGTCGGTGACAGG	0.592													.|||	73	0.0145767	0.0151	0.0144	5008	,	,		14193	0.0159		0.0189	False		,,,				2504	0.0082					ENST00000463781.3																			2	Substitution - Missense(2)	p.D4213G(2)	endometrium(2)	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.(12637-12639)gAc>gGc		mucin 4, cell surface associated							26.0	23.0	24.0					3																	195505813		690	1577	2267	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.chr3:195505813T>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.12638A>G	3.37:g.195505813T>C	ENSP00000417498:p.Asp4213Gly					MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.D4213G	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	13097	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					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.12638A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.784645	0.00628	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.46	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24190	-1.0167	7	.	.	.	.	3.8908	0.09117	0.0:0.332:0.0:0.668	.	4085	E7ESK3	.	G	4213	ENSP00000417498:D4213G;ENSP00000420243:D4213G	.	D	-	2	0	MUC4	196990592	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.874000	0.01133	-1.876000	0.00548	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	14	0	0	0	1	0	3	14				
ATP4A	495	broad.mit.edu	37	19	36049963	36049963	+	Missense_Mutation	SNP	C	C	T	rs369356784		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:36049963C>T	ENST00000262623.3	-	8	1215	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	396					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CACAGTCATGCGGTTCTGAGT	0.592																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1186-1188)cGc>cAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						266.0	214.0	232.0					19																	36049963		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36049963C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1187G>A	19.37:g.36049963C>T	ENSP00000262623:p.Arg396His						p.R396H	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1215	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		396					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1187G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511698	0.85389	.	.	ENSG00000105675	ENST00000262623	D	0.96300	-3.97	3.17	3.17	0.36434	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.181069	0.32459	N	0.006062	D	0.97393	0.9147	M	0.71296	2.17	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.97551	1.0092	10	0.87932	D	0	.	12.154	0.54066	0.0:1.0:0.0:0.0	.	396	P20648	ATP4A_HUMAN	H	396	ENSP00000262623:R396H	ENSP00000262623:R396H	R	-	2	0	ATP4A	40741803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.543000	0.82106	1.769000	0.52152	0.462000	0.41574	CGC		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	244	0	0	0	1	0	5	244				
ITPR1	3708	broad.mit.edu	37	3	4699950	4699950	+	Missense_Mutation	SNP	G	G	A	rs6766212		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:4699950G>A	ENST00000443694.2	+	10	1094	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S365N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	380	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGAGGTGACAGCCTTGTCCCA	0.493																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(1093-1095)aGc>aAc		inositol 1,4,5-trisphosphate receptor, type 1							100.0	98.0	98.0					3																	4699950		1926	4137	6063	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4699950G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1094G>A	3.37:g.4699950G>A	ENSP00000401671:p.Ser365Asn					ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000443694.2_Missense_Mutation_p.S365N|ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N	p.S365N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	12	1444	+			380			MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1094G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359127	0.82353	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	5.39	5.39	0.77823	MIR motif (2);MIR (2);	0.142496	0.64402	D	0.000005	D	0.90772	0.7103	L	0.52573	1.65	0.80722	D	1	B;B;B	0.32693	0.14;0.29;0.38	B;B;B	0.41946	0.371;0.371;0.255	D	0.88477	0.3066	10	0.32370	T	0.25	.	19.171	0.93578	0.0:0.0:1.0:0.0	.	365;380;380	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	380;365;380;380;380;365;365	ENSP00000306253:S365N;ENSP00000346595:S380N;ENSP00000405934:S380N;ENSP00000349597:S380N;ENSP00000397885:S365N;ENSP00000401671:S365N	ENSP00000306253:S365N	S	+	2	0	ITPR1	4674950	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.683000	0.68189	2.525000	0.85131	0.655000	0.94253	AGC		0.493	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		8	56	0	0	0	1	0	8	56				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	38	0	0	0	1	0	14	38				
NOS3	4846	broad.mit.edu	37	7	150704000	150704000	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:150704000G>A	ENST00000297494.3	+	16	2201	c.1844G>A	c.(1843-1845)aGc>aAc	p.S615N	NOS3_ENST00000461406.1_Missense_Mutation_p.S409N	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTTCAACAGCATCTCCTGC	0.607																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1843-1845)aGc>aAc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						108.0	99.0	102.0					7																	150704000		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704000G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1844G>A	7.37:g.150704000G>A	ENSP00000297494:p.Ser615Asn					NOS3_ENST00000461406.1_Missense_Mutation_p.S409N	p.S615N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2201	+	all_neural(206;0.219)		615			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1844G>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344852	0.61073	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59083	0.29;0.29	5.14	4.25	0.50352	Flavodoxin/nitric oxide synthase (2);	0.079210	0.51477	D	0.000097	T	0.65491	0.2696	L	0.53249	1.67	0.80722	D	1	P;P	0.48503	0.911;0.872	P;P	0.54965	0.765;0.58	T	0.66736	-0.5848	10	0.49607	T	0.09	-13.0515	13.7153	0.62693	0.0:0.1558:0.8442:0.0	.	409;615	E7ESA7;P29474	.;NOS3_HUMAN	N	615;409	ENSP00000297494:S615N;ENSP00000417143:S409N	ENSP00000297494:S615N	S	+	2	0	NOS3	150334933	1.000000	0.71417	0.973000	0.42090	0.984000	0.73092	6.775000	0.75018	1.268000	0.44264	0.603000	0.83216	AGC		0.607	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		4	171	0	0	0	1	0	4	171				
MEGF6	1953	broad.mit.edu	37	1	3428609	3428609	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:3428609C>A	ENST00000356575.4	-	8	1163	c.937G>T	c.(937-939)Gcg>Tcg	p.A313S	MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	313	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> V (in dbSNP:rs11585362).			extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCATAGCCCGCGTGACACACG	0.667																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(937-939)Gcg>Tcg		multiple EGF-like-domains 6							50.0	60.0	56.0					1																	3428609		2121	4214	6335	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3428609C>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.937G>T	1.37:g.3428609C>A	ENSP00000348982:p.Ala313Ser					MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	p.A313S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1163	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	313		A -> V (in dbSNP:rs11585362).	EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.937G>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840412	0.16891	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91843	-2.92;-2.92	4.63	1.57	0.23409	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.130150	0.51477	D	0.000097	D	0.83755	0.5323	L	0.28740	0.885	0.09310	N	1	P;P	0.47484	0.896;0.79	B;B	0.42593	0.392;0.33	T	0.74797	-0.3543	10	0.22109	T	0.4	-5.9456	6.0623	0.19844	0.0:0.406:0.3764:0.2176	.	313;208	O75095;O75095-2	MEGF6_HUMAN;.	S	208;313	ENSP00000294599:A208S;ENSP00000348982:A313S	ENSP00000294599:A208S	A	-	1	0	MEGF6	3418469	0.067000	0.21026	0.013000	0.15412	0.035000	0.12851	0.326000	0.19646	0.387000	0.25024	-0.332000	0.08345	GCG		0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		70	72	1	0	3.89499e-28	1	4.20411e-28	70	72				
CUL4B	8450	broad.mit.edu	37	X	119694140	119694140	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:119694140C>G	ENST00000404115.3	-	3	809	c.408G>C	c.(406-408)gaG>gaC	p.E136D	CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D|CUL4B_ENST00000371322.5_Missense_Mutation_p.E118D	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	136	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaTTCCTCAGCCATCT	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(352-354)gaG>gaC		cullin 4B							69.0	62.0	65.0					X																	119694140		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694140C>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.408G>C	X.37:g.119694140C>G	ENSP00000384109:p.Glu136Asp					CUL4B_ENST00000404115.3_Missense_Mutation_p.E136D|CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D	p.E118D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	415	-			136			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.354G>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944632	0.34283	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.70282	-0.46;-0.46;-0.47	5.66	3.89	0.44902	.	0.047359	0.85682	D	0.000000	T	0.67618	0.2912	N	0.14661	0.345	0.49582	D	0.999809	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	T	0.64676	-0.6351	9	.	.	.	-13.3655	9.1474	0.36942	0.0:0.747:0.0:0.253	.	136;118	Q13620;Q13620-1	CUL4B_HUMAN;.	D	118;123;136	ENSP00000360373:E118D;ENSP00000338919:E123D;ENSP00000384109:E136D	.	E	-	3	2	CUL4B	119578168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.586000	0.60984	1.164000	0.42652	0.523000	0.50628	GAG		0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		10	32	0	0	0	1	0	10	32				
GBA2	57704	broad.mit.edu	37	9	35741041	35741041	+	Silent	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:35741041T>C	ENST00000378103.3	-	5	1330	c.807A>G	c.(805-807)ggA>ggG	p.G269G	GBA2_ENST00000545786.1_Silent_p.G275G|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Silent_p.G269G|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	269					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACAAAGACTCCTACAGGCA	0.567																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(805-807)ggA>ggG		glucosidase, beta (bile acid) 2							75.0	59.0	65.0					9																	35741041		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35741041T>C	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.807A>G	9.37:g.35741041T>C						GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Silent_p.G269G|GBA2_ENST00000545786.1_Silent_p.G275G	p.G269G			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	1320	-	all_epithelial(49;0.167)		269					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.807A>G	CCDS6589.1																																																																																				0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		19	64	0	0	0	1	0	19	64				
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383																																						ENST00000361924.2																			2	Complex - compound substitution(2)	p.L2213_E2214>F*(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(6640-6642)Gaa>Taa		golgin A4							132.0	132.0	132.0					3																	37396655		2203	4299	6502	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37396655G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6640G>T	3.37:g.37396655G>T	ENSP00000354486:p.Glu2214*					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	p.E2214*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			22	7014	+			2214			GRIP.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.6640G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	48	14.881537	0.99814	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.82	5.82	0.92795	.	0.000000	0.37577	N	0.002035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.5745	0.76365	0.0:0.1371:0.8629:0.0	.	.	.	.	X	2214;2229;2085	.	ENSP00000349305:E2229X	E	+	1	0	GOLGA4	37371659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.914000	0.69964	2.756000	0.94617	0.563000	0.77884	GAA		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		27	52	1	0	2.25844e-05	1	2.32687e-05	27	52				
TG	7038	broad.mit.edu	37	8	134145854	134145854	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145854C>G	ENST00000220616.4	+	47	8178	c.8138C>G	c.(8137-8139)gCc>gGc	p.A2713G	TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000519543.1_Missense_Mutation_p.A846G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2713					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAGAAAGCCGACTGCTCC	0.547																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(8137-8139)gCc>gGc		thyroglobulin							86.0	78.0	81.0					8																	134145854		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145854C>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8138C>G	8.37:g.134145854C>G	ENSP00000220616:p.Ala2713Gly					TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000519543.1_Missense_Mutation_p.A846G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G	p.A2713G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	47	8178	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2713					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8138C>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.879334|1.879334	0.33162|0.33162	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|.	0.67865|.	-0.29;-0.29;-0.29;-0.29;0.7|.	4.84|4.84	3.96|3.96	0.45880|0.45880	Carboxylesterase, type B (1);|.	0.262070|.	0.32473|.	N|.	0.006059|.	T|T	0.45856|0.45856	0.1363|0.1363	L|L	0.53249|0.53249	1.67|1.67	0.20307|0.20307	N|N	0.999912|0.999912	D;D;D|.	0.63880|.	0.993;0.981;0.993|.	D;P;D|.	0.63192|.	0.912;0.652;0.912|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.87932|.	D|.	0|.	.|.	11.101|11.101	0.48174|0.48174	0.0:0.908:0.0:0.092|0.0:0.908:0.0:0.092	.|.	846;1083;2713|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	G|R	2656;1519;2713;832;1083;846;117|1168	ENSP00000367100:A2656G;ENSP00000220616:A2713G;ENSP00000441693:A1083G;ENSP00000430430:A846G;ENSP00000430161:A117G|.	ENSP00000220616:A2713G|.	A|S	+|+	2|3	0|2	TG|TG	134215036|134215036	0.978000|0.978000	0.34361|0.34361	0.122000|0.122000	0.21767|0.21767	0.026000|0.026000	0.11368|0.11368	3.683000|3.683000	0.54663|0.54663	1.140000|1.140000	0.42260|0.42260	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		11	43	0	0	0	1	0	11	43				
TMEM132B	114795	broad.mit.edu	37	12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A	rs550549644		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:126135302G>A	ENST00000299308.3	+	7	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	568						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1702-1704)Gcc>Acc		transmembrane protein 132B							75.0	85.0	81.0					12																	126135302		2184	4293	6477	SO:0001583	missense	114795					integral to membrane		g.chr12:126135302G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1702G>A	12.37:g.126135302G>A	ENSP00000299308:p.Ala568Thr					TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	p.A568T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1710	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		568					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1702G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219767	0.58560	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.19394	2.15;2.15	5.15	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.17577	0.0422	L	0.59436	1.845	0.80722	D	1	P	0.40515	0.719	B	0.23018	0.043	T	0.03957	-1.0989	10	0.41790	T	0.15	.	13.8152	0.63287	0.0744:0.0:0.9256:0.0	.	568	Q14DG7	T132B_HUMAN	T	568;80	ENSP00000299308:A568T;ENSP00000440436:A80T	ENSP00000299308:A568T	A	+	1	0	TMEM132B	124701255	1.000000	0.71417	0.043000	0.18650	0.693000	0.40251	9.545000	0.98095	1.137000	0.42214	0.655000	0.94253	GCC		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		9	67	0	0	0	1	0	9	67				
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	A	rs3211483		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1930-1932)Gtg>Atg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						91.0	104.0	99.0					5																	256470		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:256470G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1930G>A	5.37:g.256470G>A	ENSP00000264932:p.Val644Met					SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M	p.V644M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		15	2045	+			644					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1930G>A	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	15.71|15.71	2.915077|2.915077	0.52546|0.52546	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|D;D;D	.|0.84730	.|-1.89;-1.89;-1.89	4.12|4.12	4.12|4.12	0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.94056|0.94056	0.8095|0.8095	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.993;0.997	D|D	0.95511|0.95511	0.8586|0.8586	5|10	.|0.87932	.|D	.|0	.|.	13.8591|13.8591	0.63548|0.63548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs3211483;rs17415232|rs3211483;rs17415232	.|596;238;563;644	.|E9PBJ5;B3KYA5;D6RFM5;P31040	.|.;.;.;DHSA_HUMAN	H|M	126|644;499;563;596	.|ENSP00000264932:V644M;ENSP00000426514:V563M;ENSP00000427703:V596M	.|ENSP00000264932:V644M	R|V	+|+	2|1	0|0	SDHA|SDHA	309470|309470	1.000000|1.000000	0.71417|0.71417	0.642000|0.642000	0.29436|0.29436	0.242000|0.242000	0.25591|0.25591	8.735000|8.735000	0.91549|0.91549	1.861000|1.861000	0.53984|0.53984	0.305000|0.305000	0.20034|0.20034	CGT|GTG		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	177	0	0	0	1	0	5	177				
ESPNL	339768	broad.mit.edu	37	2	239040177	239040177	+	Missense_Mutation	SNP	G	G	A	rs143407493		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:239040177G>A	ENST00000343063.3	+	9	3085	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	ESPNL_ENST00000409506.1_Missense_Mutation_p.R573H|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.R897H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	941										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCCTGGCCGCAAGTCAGGT	0.731																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(2821-2823)cGc>cAc		espin-like		G	HIS/ARG	1,4373		0,1,2186	12.0	14.0	14.0		2822	1.8	0.0	2	dbSNP_134	14	0,8558		0,0,4279	no	missense	ESPNL	NM_194312.2	29	0,1,6465	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging	941/1006	239040177	1,12931	2187	4279	6466	SO:0001583	missense	339768							g.chr2:239040177G>A	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2822G>A	2.37:g.239040177G>A	ENSP00000339115:p.Arg941His					ESPNL_ENST00000409506.1_Missense_Mutation_p.R573H|ESPNL_ENST00000409169.1_Missense_Mutation_p.R897H|ESPNL_ENST00000477241.1_3'UTR	p.R941H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	3085	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	941					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2822G>A	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500824	0.26861	2.29E-4	0.0	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.63096	-0.02;1.08;0.66	4.72	1.84	0.25277	.	0.586877	0.15328	N	0.268194	T	0.67126	0.2860	L	0.56769	1.78	0.09310	N	1	D;D	0.76494	0.999;0.999	D;P	0.67231	0.95;0.893	T	0.56013	-0.8049	10	0.62326	D	0.03	-14.1801	1.363	0.02195	0.1933:0.1721:0.4573:0.1773	.	897;941	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	H	941;897;573	ENSP00000339115:R941H;ENSP00000386577:R897H;ENSP00000386579:R573H	ENSP00000339115:R941H	R	+	2	0	ESPNL	238704916	0.213000	0.23551	0.025000	0.17156	0.060000	0.15804	1.260000	0.32968	0.393000	0.25203	0.460000	0.39030	CGC		0.731	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		3	33	0	0	0	1	0	3	33				
KIR2DL3	3804	broad.mit.edu	37	19	55255285	55255285	+	Missense_Mutation	SNP	C	C	T	rs575503782	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:55255285C>T	ENST00000342376.3	+	4	444	c.413C>T	c.(412-414)aCg>aTg	p.T138M	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	138					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCGGGCCCCACGGTTCTGGCA	0.567													.|||	3	0.000599042	0.0	0.0	5008	,	,		12390	0.0		0.0	False		,,,				2504	0.0031					ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(412-414)aCg>aTg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							48.0	58.0	54.0					19																	55255285		1216	2373	3589	SO:0001583	missense	3804							g.chr19:55255285C>T	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.413C>T	19.37:g.55255285C>T	ENSP00000342215:p.Thr138Met					KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M	p.T138M	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	4	444	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.413C>T	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	3.185	-0.167064	0.06461	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.13538	2.58;2.58	1.28	-2.56	0.06268	Immunoglobulin subtype (2);Immunoglobulin-like fold (2);	.	.	.	.	T	0.10165	0.0249	L	0.45051	1.395	0.09310	N	1	B;P;B;B	0.36712	0.012;0.566;0.032;0.032	B;B;B;B	0.36244	0.018;0.22;0.022;0.022	T	0.09058	-1.0692	9	0.66056	D	0.02	.	3.7601	0.08601	0.0:0.2806:0.3988:0.3206	.	138;138;138;138	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	M	138	ENSP00000342215:T138M;ENSP00000415758:T138M	ENSP00000342215:T138M	T	+	2	0	KIR2DL3	59947097	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.905000	0.01591	-1.902000	0.01094	0.184000	0.17185	ACG		0.567	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			30	13	0	0	0	1	0	30	13				
HNRNPF	3185	broad.mit.edu	37	10	43882166	43882166	+	Silent	SNP	G	G	A	rs375590998		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:43882166G>A	ENST00000544000.1	-	4	1574	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000443950.2_Silent_p.Y389Y|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Silent_p.Y389Y	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537																																						ENST00000443950.2																			4	Substitution - coding silent(4)	p.Y389Y(4)	lung(4)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(1165-1167)taC>taT		heterogeneous nuclear ribonucleoprotein F		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	59.0	72.0	68.0		1167,1167,1167,1167,1167,1167	-0.4	0.8	10		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HNRNPF	NM_001098204.1,NM_001098205.1,NM_001098206.1,NM_001098207.1,NM_001098208.1,NM_004966.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	389/416,389/416,389/416,389/416,389/416,389/416	43882166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882166G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1167C>T	10.37:g.43882166G>A						HNRNPF_ENST00000337970.3_Silent_p.Y389Y|HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000544000.1_Silent_p.Y389Y	p.Y389Y	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1653	-			389					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.1167C>T	CCDS7204.1																																																																																				0.537	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			113	141	0	0	0	1	0	113	141				
PAX2	5076	broad.mit.edu	37	10	102541110	102541110	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:102541110A>G	ENST00000428433.1	+	5	1154	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	PAX2_ENST00000556085.1_Missense_Mutation_p.K201E|PAX2_ENST00000370296.2_Missense_Mutation_p.K202E|PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	202					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAGAAGAGGAAACGTGATGA	0.587																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(604-606)Aaa>Gaa		paired box 2							147.0	131.0	137.0					10																	102541110		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102541110A>G		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.604A>G	10.37:g.102541110A>G	ENSP00000396259:p.Lys202Glu					PAX2_ENST00000556085.1_Missense_Mutation_p.K201E|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000428433.1_Missense_Mutation_p.K202E|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E	p.K202E			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	5	1154	+		Colorectal(252;0.234)	202					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.604A>G	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592211	0.86953	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256	D;D;D;D;D;D	0.98028	-4.06;-4.15;-4.15;-4.12;-4.12;-4.67	5.61	5.61	0.85477	.	0.242156	0.39834	N	0.001245	D	0.98388	0.9464	M	0.72353	2.195	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.988;0.998;0.998	D;D;D;D	0.85130	0.997;0.99;0.993;0.996	D	0.98936	1.0789	10	0.48119	T	0.1	.	14.9901	0.71381	1.0:0.0:0.0:0.0	.	201;202;202;202	G3V5U4;Q02962-3;Q02962;Q02962-4	.;.;PAX2_HUMAN;.	E	94;202;202;202;202;201;202	ENSP00000359319:K202E;ENSP00000396259:K202E;ENSP00000355069:K202E;ENSP00000347385:K202E;ENSP00000452527:K201E;ENSP00000398652:K202E	ENSP00000347385:K202E	K	+	1	0	PAX2	102531100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.131000	0.65755	0.533000	0.62120	AAA		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				26	178	0	0	0	1	0	26	178				
PWWP2B	170394	broad.mit.edu	37	10	134219372	134219372	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:134219372G>A	ENST00000305233.5	+	2	1427	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PWWP2B_ENST00000368609.4_Silent_p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	456										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCGCCCTCGGTGTCCAGAG	0.701																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1366-1368)tcG>tcA		PWWP domain containing 2B							38.0	38.0	38.0					10																	134219372		2198	4296	6494	SO:0001819	synonymous_variant	170394							g.chr10:134219372G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1368G>A	10.37:g.134219372G>A						PWWP2B_ENST00000368609.4_Silent_p.S456S	p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1427	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	456					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.1368G>A	CCDS7667.2																																																																																				0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		34	58	0	0	0	1	0	34	58				
IPO9	55705	broad.mit.edu	37	1	201841994	201841994	+	Missense_Mutation	SNP	A	A	G	rs141172151		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:201841994A>G	ENST00000361565.4	+	20	2684	c.2615A>G	c.(2614-2616)aAt>aGt	p.N872S		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	872					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CATGGCATCAATGCAGATGAC	0.527																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2614-2616)aAt>aGt		importin 9		A	SER/ASN	0,4406		0,0,2203	101.0	99.0	100.0		2615	2.9	1.0	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPO9	NM_018085.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	872/1042	201841994	1,13005	2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201841994A>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2615A>G	1.37:g.201841994A>G	ENSP00000354742:p.Asn872Ser						p.N872S	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			20	2684	+			872					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2615A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629930	0.28978	0.0	1.16E-4	ENSG00000198700	ENST00000361565	T	0.66638	-0.22	5.23	2.86	0.33363	Armadillo-like helical (1);Armadillo-type fold (1);	0.086330	0.85682	D	0.000000	T	0.35998	0.0951	N	0.03238	-0.38	0.45822	D	0.998695	B	0.09022	0.002	B	0.04013	0.001	T	0.32348	-0.9910	10	0.02654	T	1	-14.2713	11.0422	0.47838	0.572:0.428:0.0:0.0	.	872	Q96P70	IPO9_HUMAN	S	872	ENSP00000354742:N872S	ENSP00000354742:N872S	N	+	2	0	IPO9	200108617	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.609000	0.61148	0.379000	0.24794	0.533000	0.62120	AAT		0.527	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		20	82	0	0	0	1	0	20	82				
MMAA	166785	broad.mit.edu	37	4	146560298	146560298	+	Missense_Mutation	SNP	A	A	G	rs527340737		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:146560298A>G	ENST00000281317.5	+	2	1217	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	3					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATGCCCATGCTGCTACC	0.423																																						ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(7-9)Atg>Gtg		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						99.0	100.0	100.0					4																	146560298		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560298A>G	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.7A>G	4.37:g.146560298A>G	ENSP00000281317:p.Met3Val					MMAA_ENST00000541599.1_5'UTR	p.M3V	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			2	1217	+	all_hematologic(180;0.151)		3					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.7A>G	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	a	5.497	0.276735	0.10403	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.90620	-2.7	5.42	-7.72	0.01250	.	1.059490	0.07278	N	0.870290	D	0.83552	0.5279	L	0.57536	1.79	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65327	-0.6195	10	0.22706	T	0.39	-8.1666	5.2887	0.15716	0.1634:0.3015:0.4363:0.0988	.	3;3	Q8IVH4;D6RIS5	MMAA_HUMAN;.	V	3	ENSP00000281317:M3V	ENSP00000281317:M3V	M	+	1	0	MMAA	146779748	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-0.428000	0.06991	-1.659000	0.01488	0.533000	0.62120	ATG		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			69	97	0	0	0	1	0	69	97				
KCNA2	3737	broad.mit.edu	37	1	111146564	111146564	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:111146564C>T	ENST00000485317.1	-	3	1514	c.841G>A	c.(841-843)Gct>Act	p.A281T	KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.A281T|KCNA2_ENST00000369770.3_Missense_Mutation_p.A281T|KCNA2_ENST00000440270.1_Missense_Mutation_p.A281T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	281					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CCTTGCTGAGCGTCCTCTGGC	0.522																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(841-843)Gct>Act		potassium voltage-gated channel, shaker-related subfamily, member 2							103.0	103.0	103.0					1																	111146564		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146564C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.841G>A	1.37:g.111146564C>T	ENSP00000433109:p.Ala281Thr					KCNA2_ENST00000316361.4_Missense_Mutation_p.A281T|KCNA2_ENST00000369770.3_Missense_Mutation_p.A281T|KCNA2_ENST00000440270.1_Missense_Mutation_p.A281T	p.A281T			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	1514	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	281					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.841G>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166148	0.21621	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96587	-1.31;-4.06;-4.06;-4.06	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.40302	N	0.001121	D	0.86167	0.5868	N	0.04090	-0.28	0.42210	D	0.991801	B;B	0.25206	0.12;0.0	B;B	0.18263	0.021;0.0	T	0.82686	-0.0334	10	0.20519	T	0.43	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	281;281	Q86XG6;P16389	.;KCNA2_HUMAN	T	281	ENSP00000358785:A281T;ENSP00000433109:A281T;ENSP00000415257:A281T;ENSP00000314520:A281T	ENSP00000314520:A281T	A	-	1	0	KCNA2	110948087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.568000	0.60857	2.785000	0.95823	0.655000	0.94253	GCT		0.522	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		6	174	0	0	0	1	0	6	174				
MACROD1	28992	broad.mit.edu	37	11	63884997	63884997	+	Intron	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:63884997C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.R420C|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCAGGGCTGCGCCTCCCCGA	0.652																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(1258-1260)Cgc>Tgc		fibronectin leucine rich transmembrane protein 1							45.0	43.0	44.0					11																	63884997		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884997C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33713G>A	11.37:g.63884997C>T						MACROD1_ENST00000255681.6_Intron	p.R420C	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	2301	+			392			Fibronectin type-III.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.1258C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033296	0.35893	.	.	ENSG00000126500	ENST00000246841	T	0.52295	0.67	5.4	5.4	0.78164	.	0.389408	0.25842	N	0.027955	T	0.41213	0.1149	L	0.29908	0.895	0.46725	D	0.999175	D	0.56521	0.976	B	0.42653	0.394	T	0.44190	-0.9344	10	0.62326	D	0.03	-22.6107	17.9416	0.89027	0.0:1.0:0.0:0.0	.	392	Q9NZU1	FLRT1_HUMAN	C	420	ENSP00000246841:R420C	ENSP00000246841:R420C	R	+	1	0	FLRT1	63641573	0.982000	0.34865	0.996000	0.52242	0.119000	0.20118	1.184000	0.32053	2.512000	0.84698	0.650000	0.86243	CGC		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		5	26	0	0	0	1	0	5	26				
EAPP	55837	broad.mit.edu	37	14	35008834	35008834	+	Start_Codon_SNP	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:35008834T>C	ENST00000250454.3	-	1	82	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-671J11.7_ENST00000553697.1_RNA	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	1					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		AGCCGGTTCATGGTGGCCTGC	0.637																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(1-3)Atg>Gtg		E2F-associated phosphoprotein							27.0	36.0	33.0					14																	35008834		1950	4123	6073	SO:0001582	initiator_codon_variant	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:35008834T>C	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.1A>G	14.37:g.35008834T>C	ENSP00000250454:p.Met1Val						p.M1V	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	1	82	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		1					Q9BVF4|Q9NWV5|Q9NZ86	Translation_Start_Site	SNP	ENST00000250454.3	37	c.1A>G	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146755	0.57151	.	.	ENSG00000129518	ENST00000250454	T	0.43688	0.94	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	.	.	.	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.66995	-0.5782	9	0.66056	D	0.02	-11.6747	14.9875	0.71359	0.0:0.0:0.0:1.0	.	1	Q56P03	EAPP_HUMAN	V	1	ENSP00000250454:M1V	ENSP00000250454:M1V	M	-	1	0	EAPP	34078585	1.000000	0.71417	0.987000	0.45799	0.337000	0.28794	5.827000	0.69300	2.094000	0.63399	0.533000	0.62120	ATG		0.637	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	Missense_Mutation	16	55	0	0	0	1	0	16	55				
FAT2	2196	broad.mit.edu	37	5	150947117	150947117	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:150947117T>C	ENST00000261800.5	-	1	1388	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGACCTGTTGAAGAGGGG	0.537																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1375-1377)aAc>aGc		FAT atypical cadherin 2							116.0	117.0	116.0					5																	150947117		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947117T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1376A>G	5.37:g.150947117T>C	ENSP00000261800:p.Asn459Ser						p.N459S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1388	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	459			Cadherin 4.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1376A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	2.888	-0.230277	0.05983	.	.	ENSG00000086570	ENST00000261800	T	0.59502	0.26	5.72	0.867	0.19085	Cadherin (3);Cadherin-like (1);	0.616205	0.16271	N	0.221764	T	0.28333	0.0700	N	0.11313	0.125	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.05721	T	0.95	.	6.8771	0.24153	0.0:0.3338:0.2922:0.374	.	459	Q9NYQ8	FAT2_HUMAN	S	459	ENSP00000261800:N459S	ENSP00000261800:N459S	N	-	2	0	FAT2	150927310	0.996000	0.38824	0.951000	0.38953	0.939000	0.58152	0.707000	0.25704	0.135000	0.18707	0.533000	0.62120	AAC		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		56	91	0	0	0	1	0	56	91				
FAM126B	285172	broad.mit.edu	37	2	201876188	201876188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:201876188G>A	ENST00000418596.3	-	6	528	c.341C>T	c.(340-342)gCt>gTt	p.A114V	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	114						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTTATCAGCGATTTCCTA	0.303																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(340-342)gCt>gTt		family with sequence similarity 126, member B							38.0	37.0	37.0					2																	201876188		2203	4275	6478	SO:0001583	missense	285172					intracellular		g.chr2:201876188G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.341C>T	2.37:g.201876188G>A	ENSP00000393667:p.Ala114Val						p.A114V	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			6	528	-			114					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.341C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908636	0.17833	.	.	ENSG00000155744	ENST00000418596;ENST00000452799	T;T	0.75050	-0.9;-0.9	5.9	5.9	0.94986	.	0.056865	0.64402	D	0.000001	T	0.37293	0.0998	N	0.00119	-2.075	0.58432	D	0.999994	B	0.14012	0.009	B	0.12837	0.008	T	0.59794	-0.7387	10	0.02654	T	1	-13.2691	20.2787	0.98501	0.0:0.0:1.0:0.0	.	114	Q8IXS8	F126B_HUMAN	V	114	ENSP00000393667:A114V;ENSP00000401905:A114V	ENSP00000393667:A114V	A	-	2	0	FAM126B	201584433	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.168000	0.77570	2.798000	0.96311	0.650000	0.86243	GCT		0.303	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		7	10	0	0	0	1	0	7	10				
STK32A	202374	broad.mit.edu	37	5	146657719	146657719	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:146657719A>G	ENST00000397936.3	+	3	418	c.85A>G	c.(85-87)Att>Gtt	p.I29V	STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGAGCCATTGGGAAAGG	0.358																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(85-87)Att>Gtt		serine/threonine kinase 32A							56.0	52.0	53.0					5																	146657719		1830	4086	5916	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146657719A>G		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.85A>G	5.37:g.146657719A>G	ENSP00000381030:p.Ile29Val					STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	418	+			29			Protein kinase.		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.85A>G	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688985	0.68271	.	.	ENSG00000169302	ENST00000397936;ENST00000541094;ENST00000398521;ENST00000398523	T;T;T;T	0.32272	1.46;2.78;2.78;1.46	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000362	T	0.48786	0.1519	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.998;0.985	D;D;D;P	0.76071	0.979;0.987;0.964;0.814	T	0.33828	-0.9853	10	0.18276	T	0.48	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	29;29;29;29	B7Z9H7;Q8WU08;Q8WU08-3;Q8WU08-2	.;ST32A_HUMAN;.;.	V	29	ENSP00000381030:I29V;ENSP00000443156:I29V;ENSP00000381533:I29V;ENSP00000381535:I29V	ENSP00000381030:I29V	I	+	1	0	STK32A	146637912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.640000	0.91028	2.105000	0.64084	0.528000	0.53228	ATT		0.358	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		5	11	0	0	0	1	0	5	11				
SRCAP	10847	broad.mit.edu	37	16	30736149	30736149	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:30736149G>A	ENST00000262518.4	+	25	5789	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1740T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1644T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1802	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gggcccggccgcagctcagac	0.637																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5404-5406)Gca>Aca		Snf2-related CREBBP activator protein							43.0	40.0	41.0					16																	30736149		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736149G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5404G>A	16.37:g.30736149G>A	ENSP00000262518:p.Ala1802Thr					SRCAP_ENST00000395059.2_Missense_Mutation_p.A1740T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1644T	p.A1802T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5789	+			1802			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.5404G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748329	0.30955	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91792	-2.83;-2.91;-2.88	5.62	-1.43	0.08884	.	0.608225	0.14682	N	0.304703	T	0.79805	0.4509	N	0.19112	0.55	0.24359	N	0.994884	B;B;B	0.13145	0.003;0.007;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.65747	-0.6093	10	0.40728	T	0.16	-1.1051	0.3179	0.00298	0.2515:0.2136:0.2971:0.2378	.	1644;1740;1802	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1802;1740;1644	ENSP00000262518:A1802T;ENSP00000378499:A1740T;ENSP00000343042:A1644T	ENSP00000262518:A1802T	A	+	1	0	SRCAP	30643650	0.000000	0.05858	0.406000	0.26421	0.875000	0.50365	0.199000	0.17237	0.046000	0.15833	-0.793000	0.03317	GCA		0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	72	0	0	0	1	0	4	72				
ELP2	55250	broad.mit.edu	37	18	33738840	33738840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr18:33738840G>T	ENST00000358232.6	+	14	1570	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	503					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCCTGCATTGGGATTATCAAA	0.333																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(1507-1509)Gga>Tga		elongator acetyltransferase complex subunit 2							70.0	69.0	70.0					18																	33738840		2203	4300	6503	SO:0001587	stop_gained	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33738840G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1507G>T	18.37:g.33738840G>T	ENSP00000350967:p.Gly503*					ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*	p.G503*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			14	1570	+			503					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	c.1507G>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	39	7.620694	0.98393	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.3846	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	X	503;477;568;433;498;433	.	ENSP00000316051:G498X	G	+	1	0	ELP2	31992838	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.993000	0.93524	2.761000	0.94854	0.585000	0.79938	GGA		0.333	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		23	20	1	0	9.80776e-20	1	1.04207e-19	23	20				
CDH12	1010	broad.mit.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1912-1914)Cga>Tga		cadherin 12, type 2 (N-cadherin 2)							78.0	76.0	76.0					5																	21752319		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752319G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1912C>T	5.37:g.21752319G>A	ENSP00000371689:p.Arg638*	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*	p.R638*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	2998	-			638					B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.1912C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	38	7.035683	0.98017	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.44	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.0773	0.99966	0.0:0.0:0.1604:0.8396	.	.	.	.	X	638;638;598	.	ENSP00000371689:R638X	R	-	1	2	CDH12	21788076	0.003000	0.15002	0.610000	0.28997	0.550000	0.35303	-0.179000	0.09768	-0.676000	0.05238	-0.467000	0.05162	CGA		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		34	11	0	0	0	1	0	34	11				
TP63	8626	broad.mit.edu	37	3	189604292	189604292	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:189604292C>T	ENST00000264731.3	+	11	1548	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	TP63_ENST00000392463.2_Missense_Mutation_p.R393C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C|TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000456148.1_Missense_Mutation_p.R389C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	487					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCTCAGCAGCGCAACGCCCT	0.502										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1459-1461)Cgc>Tgc		tumor protein p63							137.0	111.0	120.0					3																	189604292		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189604292C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1459C>T	3.37:g.189604292C>T	ENSP00000264731:p.Arg487Cys	HNSCC(45;0.13)				TP63_ENST00000456148.1_Missense_Mutation_p.R389C|TP63_ENST00000392463.2_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C|TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C	p.R487C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1548	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		487					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1459C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138235	0.77775	.	.	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99704	-6.14;-6.41;-6.39;-6.14;-6.45;-6.12;-6.36;-6.38;-6.46;-6.12	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.996;1.0;0.997	P;D;D;P;D;P	0.69142	0.862;0.95;0.931;0.862;0.962;0.835	D	0.98147	1.0439	9	.	.	.	-6.9312	14.4918	0.67657	0.1466:0.8534:0.0:0.0	.	308;487;393;393;487;487	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	C	487;487;487;483;402;393;393;393;308;389	ENSP00000264731:R487C;ENSP00000317510:R487C;ENSP00000376253:R487C;ENSP00000394337:R483C;ENSP00000371495:R402C;ENSP00000346614:R393C;ENSP00000376256:R393C;ENSP00000376254:R393C;ENSP00000387839:R308C;ENSP00000389485:R389C	.	R	+	1	0	TP63	191086986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.424000	0.52764	2.894000	0.99253	0.591000	0.81541	CGC		0.502	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		24	57	0	0	0	1	0	24	57				
FAM188B	84182	broad.mit.edu	37	7	30898919	30898919	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:30898919T>C	ENST00000265299.6	+	13	1801	c.1724T>C	c.(1723-1725)aTc>aCc	p.I575T	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.I38T	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	575										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTCTGCCATCCTGTCCAGG	0.567																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1723-1725)aTc>aCc		family with sequence similarity 188, member B							122.0	128.0	126.0					7																	30898919		2078	4224	6302	SO:0001583	missense	84182							g.chr7:30898919T>C	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1724T>C	7.37:g.30898919T>C	ENSP00000265299:p.Ile575Thr					INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.I38T	p.I575T	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			13	1801	+			575					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1724T>C	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740039	0.69304	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.40476	1.03;1.03	5.26	5.26	0.73747	.	0.312951	0.32671	N	0.005798	T	0.59128	0.2171	M	0.84683	2.71	0.80722	D	1	P;D	0.53745	0.918;0.962	P;P	0.53146	0.524;0.719	T	0.66941	-0.5796	10	0.87932	D	0	-23.6808	11.5476	0.50702	0.0:0.0:0.0:1.0	.	95;575	B8ZZX1;Q4G0A6	.;F188B_HUMAN	T	575;95;38	ENSP00000265299:I575T;ENSP00000421315:I38T	ENSP00000265299:I575T	I	+	2	0	RP5-877J2.1;FAM188B	30865444	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.383000	0.52471	1.989000	0.58080	0.459000	0.35465	ATC		0.567	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		16	63	0	0	0	1	0	16	63				
PRR30	339779	broad.mit.edu	37	2	27360157	27360157	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:27360157G>A	ENST00000335524.3	-	3	1566	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PREB_ENST00000406567.3_5'Flank|PREB_ENST00000416802.1_5'Flank|PREB_ENST00000260643.2_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		347										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGGGTCGGCCCGGGCCT	0.637																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(1039-1041)gcC>gcT		chromosome 2 open reading frame 53							84.0	82.0	82.0					2																	27360157		2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360157G>A																												ENST00000335524.3:c.1041C>T	2.37:g.27360157G>A							p.A347A	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1566	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		347					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.1041C>T	CCDS1739.1																																																																																				0.637	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			38	106	0	0	0	1	0	38	106				
SLC17A5	26503	broad.mit.edu	37	6	74331529	74331529	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:74331529C>G	ENST00000355773.5	-	7	1244	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	326					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTCTTACCTCTTGAACATTG	0.308																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(976-978)Gag>Cag		solute carrier family 17 (acidic sugar transporter), member 5							33.0	33.0	33.0					6																	74331529		2203	4297	6500	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331529C>G	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.976G>C	6.37:g.74331529C>G	ENSP00000348019:p.Glu326Gln					SLC17A5_ENST00000393019.3_3'UTR	p.E326Q	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			7	1244	-			326					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.976G>C	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299645	0.23650	.	.	ENSG00000119899	ENST00000355773	T	0.57595	0.39	5.82	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052912	0.85682	D	0.000000	T	0.21307	0.0513	N	0.16478	0.41	0.80722	D	1	B;B	0.26577	0.023;0.153	B;B	0.30316	0.048;0.114	T	0.08617	-1.0713	10	0.17369	T	0.5	.	15.007	0.71519	0.0:0.9314:0.0:0.0686	.	388;326	E1P537;Q9NRA2	.;S17A5_HUMAN	Q	326	ENSP00000348019:E326Q	ENSP00000348019:E326Q	E	-	1	0	SLC17A5	74388250	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.706000	0.61845	1.466000	0.48025	0.555000	0.69702	GAG		0.308	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			7	19	0	0	0	1	0	7	19				
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(802-804)del		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1.0			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		3	4						3	4	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)tfs		interferon gamma receptor 1	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	p.S380fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1253_1254	-	Colorectal(23;0.24)		380					B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			7	156						7	156	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	127						11	127	---	---	---	---
GSPT1	2935	broad.mit.edu	37	16	11981588	11981589	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:11981588_11981589insT	ENST00000563468.1	-	5	407_408	c.381_382insA	c.(379-384)ttagacfs	p.D128fs	GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.D265fs|GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.D128fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Frame_Shift_Ins_p.D266fs|GSPT1_ENST00000564790.1_5'Flank			P15170	ERF3A_HUMAN	G1 to S phase transition 1	128	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TGATTTGTGTCTAAGGCCCAAG	0.356																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(793-798)ttacacfs		G1 to S phase transition 1																																				SO:0001589	frameshift_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11981588_11981589insT	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.382dupA	16.37:g.11981589_11981589dupT	ENSP00000454351:p.Asp128fs					GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.H128fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.H265fs|GSPT1_ENST00000563468.1_Frame_Shift_Ins_p.H128fs	p.H266fs	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			7	994_995	-			128					J3KQG6|Q96GF2	Frame_Shift_Ins	INS	ENST00000563468.1	37	c.795_796insA	CCDS45414.1																																																																																				0.356	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		33	100						33	100	---	---	---	---
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198|rs540642647|rs68023760|rs55861500	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr22:42537119_42537120insA	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000358097.4_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GGGCTACCACCGGGGCTGATGC	0.614														2230	0.445288	0.202	0.4697	5008	,	,		12179	0.748		0.494	False		,,,				2504	0.3947					ENST00000435101.1																			0				endometrium(1)	1																																														0							g.chr22:42537119_42537120insA	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537119_42537120insA						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	296	-									RNA	INS	ENST00000416037.2	37																																																																																						0.614	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		4	6						4	6	---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(238-243)ggg>gg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	57,2761		4,39,10,1217,288					,,	4.4	1.0			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	9949							g.chrX:109561058_109561060delCCG	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del					AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR	p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	407_409	-			80			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.240_242delCGG	CCDS14551.1																																																																																				0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			2	4						2	4	---	---	---	---
