#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
STAC3	246329	broad.mit.edu	37	12	57642553	57642553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:57642553C>T	ENST00000332782.2	-	4	569	c.368G>A	c.(367-369)tGc>tAc	p.C123Y	STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	123					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GTTGGTTTTGCAGTTCTTACA	0.488																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(367-369)tGc>tAc		SH3 and cysteine rich domain 3							440.0	383.0	403.0					12																	57642553		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642553C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.368G>A	12.37:g.57642553C>T	ENSP00000329200:p.Cys123Tyr					STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y	p.C123Y	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	569	-			123					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.368G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692577	0.88735	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000553489	D;D;D	0.99876	-7.41;-7.41;-7.41	5.36	5.36	0.76844	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.93106	3.38	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.96592	0.9438	10	0.66056	D	0.02	-22.6744	18.2426	0.89973	0.0:1.0:0.0:0.0	.	123	Q96MF2	STAC3_HUMAN	Y	84;123;123	ENSP00000452068:C84Y;ENSP00000329200:C123Y;ENSP00000452299:C123Y	ENSP00000329200:C123Y	C	-	2	0	STAC3	55928820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.296000	0.78790	2.676000	0.91093	0.655000	0.94253	TGC		0.488	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		5	365	0	0	0	1	0	5	365				
IL13RA1	3597	broad.mit.edu	37	X	117875042	117875042	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:117875042A>G	ENST00000371666.3	+	2	218	c.151A>G	c.(151-153)Aca>Gca	p.T51A	SNORA35_ENST00000458908.1_RNA|IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	51	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGTAATATGGACATGGAATCC	0.378																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(151-153)Aca>Gca		interleukin 13 receptor, alpha 1							120.0	110.0	113.0					X																	117875042		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117875042A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.151A>G	X.37:g.117875042A>G	ENSP00000360730:p.Thr51Ala					IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			2	218	+			51					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.151A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483302	0.44147	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.92199	-2.69;-2.99	5.78	4.57	0.56435	.	0.078262	0.53938	D	0.000044	D	0.83505	0.5269	L	0.29908	0.895	0.80722	D	1	B;B;P	0.36837	0.354;0.354;0.571	B;B;B	0.26416	0.069;0.069;0.069	T	0.83154	-0.0102	10	0.46703	T	0.11	-16.4197	9.0011	0.36083	0.8177:0.1823:0.0:0.0	.	51;51;51	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	A	51	ENSP00000360730:T51A;ENSP00000360705:T51A	ENSP00000360705:T51A	T	+	1	0	IL13RA1	117759070	0.998000	0.40836	0.998000	0.56505	0.889000	0.51656	2.854000	0.48325	1.937000	0.56155	0.486000	0.48141	ACA		0.378	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		8	42	0	0	0	1	0	8	42				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		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.chr17:7577547C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	15	1	0	1.22574e-08	1	1.25887e-08	19	15				
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121.0	119.0	119.0					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	49	0	0	0	1	0	3	49				
NRXN3	9369	broad.mit.edu	37	14	79433549	79433549	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:79433549A>G	ENST00000554719.1	+	10	2149		c.e10-1		NRXN3_ENST00000335750.5_Splice_Site	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTTTCTTCCTAGGTATATACA	0.423																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.e10-1		neurexin 3							36.0	34.0	35.0					14																	79433549		2203	4300	6503	SO:0001630	splice_region_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79433549A>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1659-1A>G	14.37:g.79433549A>G						NRXN3_ENST00000335750.5_Splice_Site		NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	10	2149	+		Renal(4;0.00876)						A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Splice_Site	SNP	ENST00000554719.1	37		CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259626	0.80246	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRXN3	78503302	1.000000	0.71417	0.938000	0.37757	0.790000	0.44656	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	.		0.423	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	Intron	7	16	0	0	0	1	0	7	16				
BTBD7	55727	broad.mit.edu	37	14	93730194	93730194	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:93730194C>T	ENST00000334746.5	-	4	1615	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	BTBD7_ENST00000554565.1_Silent_p.S85S|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAAACATCCGAAGTCATGA	0.423																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1306-1308)tcG>tcA		BTB (POZ) domain containing 7							124.0	115.0	118.0					14																	93730194		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93730194C>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1308G>A	14.37:g.93730194C>T						BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Silent_p.S85S	p.S436S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	4	1615	-		all_cancers(154;0.08)	436					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.1308G>A	CCDS32146.1																																																																																				0.423	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		19	58	0	0	0	1	0	19	58				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		5	45	0	0	0	1	0	5	45				
ITIH1	3697	broad.mit.edu	37	3	52822010	52822010	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:52822010C>T	ENST00000273283.2	+	17	1957	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	ITIH1_ENST00000405128.3_Silent_p.L11L|ITIH1_ENST00000537050.1_Silent_p.L357L|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000542827.1_Intron	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	645	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCGTTCGTGCTGTCAGCCTT	0.607																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1933-1935)Ctg>Ttg		inter-alpha-trypsin inhibitor heavy chain 1							145.0	133.0	137.0					3																	52822010		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52822010C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1933C>T	3.37:g.52822010C>T						ITIH1_ENST00000405128.3_Silent_p.L11L|ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000537050.1_Silent_p.L357L	p.L645L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	17	1957	+			645			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1933C>T	CCDS2864.1																																																																																				0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		34	58	0	0	0	1	0	34	58				
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A	rs562134831	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000366827.2_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		3	8	0	0	0	1	0	3	8				
TNRC18	84629	broad.mit.edu	37	7	5402311	5402311	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr7:5402311C>G	ENST00000430969.1	-	12	4713	c.4365G>C	c.(4363-4365)aaG>aaC	p.K1455N	TNRC18_ENST00000399537.4_Missense_Mutation_p.K1455N	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1455							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCAGCTGTACTTCTTGTTGG	0.677																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4363-4365)aaG>aaC		trinucleotide repeat containing 18							28.0	36.0	33.0					7																	5402311		2018	4165	6183	SO:0001583	missense	84629						DNA binding	g.chr7:5402311C>G	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4365G>C	7.37:g.5402311C>G	ENSP00000395538:p.Lys1455Asn					TNRC18_ENST00000430969.1_Missense_Mutation_p.K1455N	p.K1455N			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	12	4713	-		Ovarian(82;0.142)	1455					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4365G>C	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618709	0.28801	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.27104	1.71;1.69	5.34	3.49	0.39957	.	0.000000	0.46758	D	0.000272	T	0.49167	0.1541	M	0.73962	2.25	0.47476	D	0.999433	D	0.89917	1.0	D	0.85130	0.997	T	0.53479	-0.8433	10	0.66056	D	0.02	.	12.5115	0.56007	0.0:0.8596:0.0:0.1404	.	1455	O15417	TNC18_HUMAN	N	1455;1455;510	ENSP00000382452:K1455N;ENSP00000395538:K1455N	ENSP00000382452:K1455N	K	-	3	2	TNRC18	5368837	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.408000	0.34668	1.216000	0.43427	0.561000	0.74099	AAG		0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	1	0	0	0	1	0	4	1				
ANXA10	11199	broad.mit.edu	37	4	169100462	169100462	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:169100462T>C	ENST00000359299.3	+	9	909	c.723T>C	c.(721-723)atT>atC	p.I241I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	241						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGGTTGCAATTGGTAAGTAAT	0.338																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.e9+1		annexin A10							55.0	56.0	55.0					4																	169100462		2203	4300	6503	SO:0001630	splice_region_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169100462T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.724+1T>C	4.37:g.169100462T>C							p.I241_splice	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	9	909	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	241					Q96IQ5|Q9UJV4	Splice_Site	SNP	ENST00000359299.3	37	c.724_splice	CCDS34096.1																																																																																				0.338	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	Silent	6	2	0	0	0	1	0	6	2				
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	rs201264205		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1888-1890)Cgc>Tgc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4		C	CYS/ARG	0,4406		0,0,2203	159.0	166.0	164.0		1888	5.8	1.0	2		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/799	103141552	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141552C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1888C>T	2.37:g.103141552C>T	ENSP00000295269:p.Arg630Cys						p.R630C	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2345	+			630					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1888C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073447	0.76415	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.48201	0.82	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.56124	0.1964	M	0.86268	2.805	0.58432	D	0.999996	B	0.32350	0.366	B	0.28916	0.096	T	0.61163	-0.7118	10	0.62326	D	0.03	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	C	630	ENSP00000295269:R630C	ENSP00000295269:R630C	R	+	1	0	SLC9A4	102507984	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.751000	0.62169	2.765000	0.95021	0.643000	0.83706	CGC		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		5	150	0	0	0	1	0	5	150				
MARCH10	162333	broad.mit.edu	37	17	60802387	60802387	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:60802387G>A	ENST00000311269.5	-	7	2290	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P|MARCH10_ENST00000583600.1_Silent_p.P710P|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Silent_p.P671P|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	672					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCAGGAGGGGGTTGCTTG	0.537																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(2011-2013)ccC>ccT		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							73.0	80.0	78.0					17																	60802387		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60802387G>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2016C>T	17.37:g.60802387G>A						RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Silent_p.P672P|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.P710P|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P	p.P671P			Q8NA82	MARHA_HUMAN			8	2391	-			672					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.2013C>T	CCDS11635.1																																																																																				0.537	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		31	43	0	0	0	1	0	31	43				
WNT7A	7476	broad.mit.edu	37	3	13896294	13896294	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:13896294C>T	ENST00000285018.4	-	3	609	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCAGCCTCCCGGCTCCCTGC	0.622																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(304-306)cGg>cAg		wingless-type MMTV integration site family, member 7A							52.0	52.0	52.0					3																	13896294		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896294C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.305G>A	3.37:g.13896294C>T	ENSP00000285018:p.Arg102Gln						p.R102Q	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	609	-			102					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.305G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192949	0.78902	.	.	ENSG00000154764	ENST00000285018	T	0.81078	-1.45	5.16	5.16	0.70880	.	0.264784	0.36444	N	0.002591	D	0.90642	0.7065	M	0.89658	3.05	0.48288	D	0.999626	D	0.60160	0.987	P	0.59643	0.861	D	0.92685	0.6161	10	0.87932	D	0	.	18.6562	0.91455	0.0:1.0:0.0:0.0	.	102	O00755	WNT7A_HUMAN	Q	102	ENSP00000285018:R102Q	ENSP00000285018:R102Q	R	-	2	0	WNT7A	13871295	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	2.925000	0.48884	2.410000	0.81850	0.561000	0.74099	CGG		0.622	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		9	37	0	0	0	1	0	9	37				
SNX9	51429	broad.mit.edu	37	6	158357011	158357011	+	Missense_Mutation	SNP	A	A	G	rs187768612	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:158357011A>G	ENST00000392185.3	+	14	1553	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	RNU6-786P_ENST00000516849.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	461	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ACAGATCTCAATGATGCAATA	0.303													A|||	4	0.000798722	0.003	0.0	5008	,	,		17589	0.0		0.0	False		,,,				2504	0.0					ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1381-1383)aAt>aGt		sorting nexin 9							76.0	71.0	73.0					6																	158357011		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158357011A>G	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1382A>G	6.37:g.158357011A>G	ENSP00000376024:p.Asn461Ser						p.N461S	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	14	1553	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	461			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1382A>G	CCDS5253.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	16.15	3.041575	0.55003	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.38401	1.14	5.42	5.42	0.78866	Sorting nexin protein, WASP-binding domain (1);	0.055757	0.64402	D	0.000001	T	0.11793	0.0287	N	0.21324	0.655	0.45822	D	0.998695	P	0.36789	0.57	B	0.32980	0.156	T	0.06752	-1.0809	10	0.31617	T	0.26	-11.435	15.4373	0.75157	1.0:0.0:0.0:0.0	.	461	Q9Y5X1	SNX9_HUMAN	S	461;461;261	ENSP00000376024:N461S	ENSP00000252631:N261S	N	+	2	0	SNX9	158276999	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	5.886000	0.69743	-0.660000	0.05352	0.533000	0.62120	AAT		0.303	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			10	20	0	0	0	1	0	10	20				
CFAP61	26074	broad.mit.edu	37	20	20269322	20269322	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:20269322G>T	ENST00000245957.5	+	23	2942	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		956										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCATGTCTTGTGTATGACAG	0.418																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2866-2868)Gtg>Ttg		chromosome 20 open reading frame 26							218.0	203.0	208.0					20																	20269322		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269322G>T																												ENST00000245957.5:c.2866G>T	20.37:g.20269322G>T	ENSP00000245957:p.Val956Leu					C20orf26_ENST00000377309.2_Intron	p.V956L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2942	+			956					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2866G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615457	0.87359	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.40225	1.04	5.75	5.75	0.90469	.	0.149508	0.44902	D	0.000404	T	0.60051	0.2239	M	0.80183	2.485	0.80722	D	1	P	0.51537	0.946	P	0.50270	0.636	T	0.65265	-0.6210	10	0.72032	D	0.01	.	19.938	0.97149	0.0:0.0:1.0:0.0	.	956	Q8NHU2	CT026_HUMAN	L	896;922;956	ENSP00000245957:V956L	ENSP00000245957:V956L	V	+	1	0	C20orf26	20217322	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	6.017000	0.70805	2.732000	0.93576	0.650000	0.86243	GTG		0.418	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			60	106	1	0	3.13765e-25	1	3.31197e-25	60	106				
RBM12	10137	broad.mit.edu	37	20	34240878	34240878	+	Silent	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:34240878A>G	ENST00000374114.3	-	3	2630	c.2367T>C	c.(2365-2367)ccT>ccC	p.P789P	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Silent_p.P789P|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	789	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAAATTCTGAGGGCCCCCTC	0.572																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2365-2367)ccT>ccC		RNA binding motif protein 12							30.0	35.0	33.0					20																	34240878		2201	4296	6497	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240878A>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2367T>C	20.37:g.34240878A>G						RBM12_ENST00000359646.1_Silent_p.P789P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron	p.P789P	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2630	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		789			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2367T>C	CCDS13261.1																																																																																				0.572	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		3	34	0	0	0	1	0	3	34				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>A		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.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	29	0	0	0	1	0	15	29				
LRP8	7804	broad.mit.edu	37	1	53736990	53736990	+	Silent	SNP	G	G	A	rs374879339		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:53736990G>A	ENST00000306052.6	-	7	1136	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000371454.2_Silent_p.G345G|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.G175G|RP4-784A16.1_ENST00000432653.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	345	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGAGCAGCCGCCATTGTTGT	0.612																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1033-1035)ggC>ggT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor		G	,,,	1,4405	2.1+/-5.4	0,1,2202	73.0	67.0	69.0		1035,1035,648,525	-10.3	0.0	1		69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LRP8	NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	345/905,345/964,216/701,175/794	53736990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53736990G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1035C>T	1.37:g.53736990G>A						LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000347547.2_Silent_p.G175G|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.G345G	p.G345G	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			7	1136	-			345			EGF-like 1.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1035C>T	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	0.272	-0.992327	0.02162	2.27E-4	0.0	ENSG00000157193	ENST00000475501	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62353	-0.6872	4	.	.	.	.	7.9894	0.30231	0.5151:0.331:0.0877:0.0663	.	.	.	.	V	34	.	.	A	-	2	0	LRP8	53509578	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-4.659000	0.00202	-4.072000	0.00076	-2.129000	0.00344	GCG		0.612	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	59	0	0	0	1	0	5	59				
ATN1	1822	broad.mit.edu	37	12	7045239	7045239	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:7045239C>G	ENST00000356654.4	+	5	1046	c.809C>G	c.(808-810)gCt>gGt	p.A270G	ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	270					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTAGTGGTGCTCCCCCAACA	0.627																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(808-810)gCt>gGt		atrophin 1							56.0	48.0	51.0					12																	7045239		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045239C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.809C>G	12.37:g.7045239C>G	ENSP00000349076:p.Ala270Gly					ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1046	+			270					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.809C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	2.739	-0.262695	0.05754	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.46451	0.87;0.87;0.87	3.51	2.61	0.31194	.	0.258446	0.20338	U	0.094281	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B;B	0.22276	0.004;0.067	B;B	0.18871	0.013;0.023	T	0.18335	-1.0340	10	0.18276	T	0.48	.	6.9877	0.24737	0.0:0.7162:0.0:0.2838	.	270;270	Q86V38;P54259	.;ATN1_HUMAN	G	270	ENSP00000349076:A270G;ENSP00000379915:A270G;ENSP00000441744:A270G	ENSP00000349076:A270G	A	+	2	0	ATN1	6915500	0.000000	0.05858	0.997000	0.53966	0.461000	0.32589	0.520000	0.22878	0.810000	0.34279	0.580000	0.79431	GCT		0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		9	27	0	0	0	1	0	9	27				
SNHG14	104472715	broad.mit.edu	37	15	25415763	25415763	+	RNA	SNP	C	C	T	rs575103610		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr15:25415763C>T	ENST00000441592.2	+	0	0				SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GCCCCCGGTGCGCTGAAGCTC	0.657																																						ENST00000549301.1																			0																																																			0							g.chr15:25415763C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415763C>T						SNHG14_ENST00000553149.1_RNA								0	277	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.657	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			10	20	0	0	0	1	0	10	20				
MAN1C1	57134	broad.mit.edu	37	1	26104708	26104708	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:26104708G>A	ENST00000374332.4	+	9	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	457					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1369-1371)gGc>gAc		mannosidase, alpha, class 1C, member 1							49.0	51.0	50.0					1																	26104708		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26104708G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1370G>A	1.37:g.26104708G>A	ENSP00000363452:p.Gly457Asp					MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D	p.G457D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	9	1700	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	457					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1370G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368587	0.95900	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	D;D;D	0.87029	-2.2;-2.2;-2.2	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98740	1.0716	10	0.87932	D	0	.	18.9545	0.92653	0.0:0.0:1.0:0.0	.	457	Q9NR34	MA1C1_HUMAN	D	457;277;277;228	ENSP00000363452:G457D;ENSP00000263979:G277D;ENSP00000363449:G228D	ENSP00000263979:G277D	G	+	2	0	MAN1C1	25977295	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.581000	0.98210	2.702000	0.92279	0.655000	0.94253	GGC		0.612	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		18	21	0	0	0	1	0	18	21				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	13	0	0	0	1	0	3	13				
SNX31	169166	broad.mit.edu	37	8	101612660	101612660	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:101612660C>T	ENST00000311812.2	-	9	841	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	231					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCAATGTCCTGTATTGCC	0.348																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(691-693)Gac>Aac		sorting nexin 31							185.0	172.0	176.0					8																	101612660		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101612660C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.691G>A	8.37:g.101612660C>T	ENSP00000312368:p.Asp231Asn					SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	p.D231N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		9	841	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		231					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.691G>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094527	0.76870	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.38560	1.49;1.13	5.06	5.06	0.68205	.	0.095144	0.44097	D	0.000482	T	0.66973	0.2844	M	0.83223	2.63	0.52099	D	0.999947	D;P	0.63880	0.993;0.877	D;P	0.66602	0.945;0.494	T	0.72404	-0.4304	10	0.87932	D	0	-20.0087	17.3678	0.87368	0.0:1.0:0.0:0.0	.	132;231	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	N	231;132	ENSP00000312368:D231N;ENSP00000405024:D132N	ENSP00000312368:D231N	D	-	1	0	SNX31	101681836	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.588000	0.60999	2.618000	0.88619	0.557000	0.71058	GAC		0.348	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		38	80	0	0	0	1	0	38	80				
GATA6	2627	broad.mit.edu	37	18	19751274	19751274	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr18:19751274G>A	ENST00000269216.3	+	2	446	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	GATA6_ENST00000581694.1_Missense_Mutation_p.A57T|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	57					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCCGGCGGCGCCAGCAACTG	0.741																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(169-171)Gcc>Acc		GATA binding protein 6							6.0	8.0	8.0					18																	19751274		1947	3929	5876	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751274G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.169G>A	18.37:g.19751274G>A	ENSP00000269216:p.Ala57Thr					GATA6_ENST00000581694.1_Missense_Mutation_p.A57T	p.A57T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	446	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		57					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.169G>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896953	0.52121	.	.	ENSG00000141448	ENST00000269216	D	0.98617	-5.03	3.89	3.89	0.44902	.	0.537870	0.15314	U	0.268930	D	0.94922	0.8358	N	0.24115	0.695	0.26497	N	0.974841	B	0.27117	0.168	B	0.14578	0.011	D	0.91301	0.5067	10	0.62326	D	0.03	.	6.7339	0.23399	0.1009:0.182:0.7171:0.0	.	57	Q92908	GATA6_HUMAN	T	57	ENSP00000269216:A57T	ENSP00000269216:A57T	A	+	1	0	GATA6	18005272	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.694000	0.37752	1.723000	0.51488	0.455000	0.32223	GCC		0.741	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		4	3	0	0	0	1	0	4	3				
PKHD1	5314	broad.mit.edu	37	6	51484035	51484035	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:51484035G>A	ENST00000371117.3	-	67	12344	c.12069C>T	c.(12067-12069)gaC>gaT	p.D4023D	RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4023					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGTCTGAAGTCTGGGCATA	0.567																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(12067-12069)gaC>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							55.0	53.0	54.0					6																	51484035		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484035G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.12069C>T	6.37:g.51484035G>A						RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	p.D4023D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12344	-	Lung NSC(77;0.0605)		4023					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.12069C>T	CCDS4935.1																																																																																				0.567	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	23	0	0	0	1	0	10	23				
PHF3	23469	broad.mit.edu	37	6	64408211	64408211	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:64408211A>G	ENST00000262043.3	+	7	3119	c.2779A>G	c.(2779-2781)Atc>Gtc	p.I927V	PHF3_ENST00000393387.1_Missense_Mutation_p.I927V			Q92576	PHF3_HUMAN	PHD finger protein 3	927	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCAGATCAGATCAGGCAAAG	0.343																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2779-2781)Atc>Gtc		PHD finger protein 3							140.0	142.0	141.0					6																	64408211		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64408211A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2779A>G	6.37:g.64408211A>G	ENSP00000262043:p.Ile927Val					PHF3_ENST00000393387.1_Missense_Mutation_p.I927V	p.I927V			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		7	3119	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		927			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2779A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319902	0.60634	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.49	5.49	0.81192	Transcription elongation factor S-II, central domain (4);	0.000000	0.40469	N	0.001094	T	0.39279	0.1072	N	0.17082	0.46	0.80722	D	1	P	0.47350	0.894	D	0.74348	0.983	T	0.41088	-0.9528	10	0.40728	T	0.16	-8.4127	15.8791	0.79189	1.0:0.0:0.0:0.0	.	927	Q92576	PHF3_HUMAN	V	741;196;927;927	ENSP00000424694:I741V;ENSP00000425338:I196V;ENSP00000262043:I927V;ENSP00000377048:I927V	ENSP00000262043:I927V	I	+	1	0	PHF3	64466170	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.620000	0.90943	2.213000	0.71641	0.397000	0.26171	ATC		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			44	109	0	0	0	1	0	44	109				
MUC16	94025	broad.mit.edu	37	19	9048095	9048095	+	Missense_Mutation	SNP	G	G	T	rs72486386	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:9048095G>T	ENST00000397910.4	-	5	33739	c.33536C>A	c.(33535-33537)aCc>aAc	p.T11179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGTTGTGGTCTCTGGTTC	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33535-33537)aCc>aAc		mucin 16, cell surface associated							65.0	59.0	61.0					19																	9048095		1937	4144	6081	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048095G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33536C>A	19.37:g.9048095G>T	ENSP00000381008:p.Thr11179Asn						p.T11179N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33739	-			11181			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33536C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.704	0.498532	0.12762	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.44	1.28	0.21552	.	.	.	.	.	T	0.03305	0.0096	M	0.63843	1.955	.	.	.	P	0.37101	0.582	B	0.31614	0.133	T	0.26467	-1.0102	8	0.87932	D	0	.	4.0053	0.09598	0.1247:0.0:0.6413:0.234	.	11179	B5ME49	.	N	11179	ENSP00000381008:T11179N	ENSP00000381008:T11179N	T	-	2	0	MUC16	8909095	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.264000	0.18497	0.437000	0.26423	0.556000	0.70494	ACC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	27	1	0	1	1	1	3	27				
OR5AP2	338675	broad.mit.edu	37	11	56409457	56409457	+	Silent	SNP	G	G	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:56409457G>C	ENST00000302981.1	-	1	458	c.459C>G	c.(457-459)acC>acG	p.T153T	OR5AP2_ENST00000544374.1_Silent_p.T154T	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTAAGAAGGAGGTAGCTATTA	0.453																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(460-462)acC>acG		olfactory receptor, family 5, subfamily AP, member 2							91.0	90.0	90.0					11																	56409457		2201	4296	6497	SO:0001819	synonymous_variant	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409457G>C	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.459C>G	11.37:g.56409457G>C						OR5AP2_ENST00000302981.1_Silent_p.T153T	p.T154T			Q8NGF4	O5AP2_HUMAN			1	490	-			153					B2RNM8	Silent	SNP	ENST00000302981.1	37	c.462C>G	CCDS31534.1																																																																																				0.453	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		10	33	0	0	0	1	0	10	33				
YIPF3	25844	broad.mit.edu	37	6	43480227	43480227	+	Silent	SNP	G	G	A	rs147670761	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:43480227G>A	ENST00000372422.2	-	8	1037	c.855C>T	c.(853-855)caC>caT	p.H285H	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Silent_p.H291H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	285					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGAAGAGCATGTGTAGGGCAG	0.567													G|||	4	0.000798722	0.0	0.0	5008	,	,		19918	0.004		0.0	False		,,,				2504	0.0					ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(853-855)caC>caT		Yip1 domain family, member 3							42.0	44.0	43.0					6																	43480227		2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480227G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.855C>T	6.37:g.43480227G>A						YIPF3_ENST00000506469.1_Silent_p.H291H	p.H285H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		8	1037	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		285					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.855C>T	CCDS4899.1																																																																																				0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		7	6	0	0	0	1	0	7	6				
VGLL2	245806	broad.mit.edu	37	6	117591791	117591791	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:117591791C>T	ENST00000326274.5	+	3	667	c.477C>T	c.(475-477)ggC>ggT	p.G159G	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGCCGCTGGGCAGCCCTCTGG	0.741																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(475-477)ggC>ggT		vestigial like 2 (Drosophila)							6.0	8.0	7.0					6																	117591791		2089	4134	6223	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117591791C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.477C>T	6.37:g.117591791C>T						VGLL2_ENST00000352536.3_Intron	p.G159G	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	3	667	+			159					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.477C>T	CCDS5115.1																																																																																				0.741	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		4	3	0	0	0	1	0	4	3				
SF3B2	10992	broad.mit.edu	37	11	65829467	65829467	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:65829467G>C	ENST00000322535.6	+	16	2024	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q	SF3B2_ENST00000528302.1_Missense_Mutation_p.E642Q	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	659					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCCCATCCCTGAGGTGAGCAT	0.498																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1924-1926)Gag>Cag		splicing factor 3b, subunit 2, 145kDa							73.0	58.0	63.0					11																	65829467		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65829467G>C	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1975G>C	11.37:g.65829467G>C	ENSP00000318861:p.Glu659Gln					SF3B2_ENST00000322535.6_Missense_Mutation_p.E659Q	p.E642Q			Q13435	SF3B2_HUMAN			15	1978	+			659					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1924G>C	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644218	0.87859	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.8	5.8	0.92144	PSP, proline-rich (1);	0.101421	0.64402	D	0.000003	T	0.78515	0.4295	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.78298	-0.2258	9	0.49607	T	0.09	-32.3175	17.5568	0.87892	0.0:0.0:1.0:0.0	.	659	Q13435	SF3B2_HUMAN	Q	642;659;563	.	ENSP00000318861:E659Q	E	+	1	0	SF3B2	65586043	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.245000	0.95431	2.741000	0.93983	0.650000	0.86243	GAG		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			3	7	0	0	0	1	0	3	7				
VWA2	340706	broad.mit.edu	37	10	116038488	116038488	+	Silent	SNP	C	C	G	rs368890749		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:116038488C>G	ENST00000392982.3	+	8	961	c.711C>G	c.(709-711)gtC>gtG	p.V237V	VWA2_ENST00000603594.1_Silent_p.V237V			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	237					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACTGCAGGGTCGAGGCTCACC	0.657																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(709-711)gtC>gtG		von Willebrand factor A domain containing 2							108.0	84.0	92.0					10																	116038488		2203	4300	6503	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116038488C>G	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.711C>G	10.37:g.116038488C>G						VWA2_ENST00000392982.3_Silent_p.V237V	p.V237V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	8	1032	+			237					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.711C>G																																																																																					0.657	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		17	15	0	0	0	1	0	17	15				
CSPP1	79848	broad.mit.edu	37	8	68074125	68074125	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:68074125A>G	ENST00000262210.5	+	20	2634	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	903					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTTCAGTTGACAGCATCATA	0.343																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2602-2604)gAc>gGc		centrosome and spindle pole associated protein 1							186.0	182.0	183.0					8																	68074125		1861	4103	5964	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68074125A>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2603A>G	8.37:g.68074125A>G	ENSP00000262210:p.Asp868Gly					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G	p.D868G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		20	2634	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	903					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2603A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711762	0.68730	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.35973	1.29;1.28;1.28	5.09	3.95	0.45737	.	0.343695	0.32548	N	0.005958	T	0.34542	0.0901	L	0.51422	1.61	0.32264	N	0.569732	P;P;B	0.51537	0.946;0.655;0.084	P;B;B	0.44561	0.453;0.269;0.028	T	0.51236	-0.8731	10	0.51188	T	0.08	-14.9783	11.1978	0.48724	0.9235:0.0:0.0765:0.0	.	523;868;903	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	G	868;903;523;523	ENSP00000262210:D868G;ENSP00000415782:D523G;ENSP00000430092:D523G	ENSP00000262210:D868G	D	+	2	0	CSPP1	68236679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.448000	0.66612	2.275000	0.75901	0.528000	0.53228	GAC		0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		38	94	0	0	0	1	0	38	94				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	3	0	0	0	1	0	2	3				
DLG5	9231	broad.mit.edu	37	10	79685993	79685993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:79685993delG	ENST00000372391.2	-	1	291	c.286delC	c.(286-288)cagfs	p.Q96fs	DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs|DLG5-AS1_ENST00000449852.1_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	96					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCGGCGGGCTGCGGCGGCCCG	0.726																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(286-288)agfs		discs, large homolog 5 (Drosophila)							4.0	8.0	7.0					10																	79685993		1427	3328	4755	SO:0001589	frameshift_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79685993delG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.286delC	10.37:g.79685993delG	ENSP00000361467:p.Gln96fs					DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs	p.Q96fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		1	291	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		96					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Del	DEL	ENST00000372391.2	37	c.286delC	CCDS7353.2																																																																																				0.726	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			2	4						2	4	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111594198	111594221	+	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCCTTTGATATTACCAATTTAGGC	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	ENST00000304987.3	+	15	2320_2322	c.2147_2149delTCCTTTGATATTACCAATTTAGGC	c.(2146-2151)atcctt>att	p.L717del		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	717					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAAATTCTTTCCTTTGATATTACCAATTTAGGCTCCAGCAGAA	0.402																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.e15-1		salt-inducible kinase 2																																				SO:0001630	splice_region_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2148-1TCCTTTGATATTACCAATTTAGGC>-	11.37:g.111594198_111594221delTCCTTTGATATTACCAATTTAGGC							p.I716_splice	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2320_2322	+			716					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Splice_Site	DEL	ENST00000304987.3	37	c.2147_splice	CCDS8347.1																																																																																				0.402	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	In_Frame_Del	9	31						9	31	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24511654	24511656	+	RNA	DEL	TTG	TTG	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:24511654_24511656delTTG	ENST00000558293.1	+	0	437					NR_102693.1																						GAAGGAAGATttgttgttgttgt	0.365																																						ENST00000558293.1																			0													dehydrogenase/reductase (SDR family) member 4 like 1																																						728635							g.chr14:24511654_24511656delTTG																													14.37:g.24511663_24511665delTTG								NR_102693.1						0	437	+									RNA	DEL	ENST00000558293.1	37																																																																																						0.365	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			2	4						2	4	---	---	---	---
TCEANC	170082	broad.mit.edu	37	X	13681313	13681313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:13681313delC	ENST00000380600.1	+	2	773	c.686delC	c.(685-687)gccfs	p.A229fs	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	229	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCAAAGTTGCCAATTTGAAG	0.373																																						ENST00000380600.1																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						c.(685-687)gcfs		transcription elongation factor A (SII) N-terminal and central domain containing							27.0	25.0	25.0					X																	13681313		1826	4074	5900	SO:0001589	frameshift_variant	170082				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:13681313delC		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.686delC	X.37:g.13681313delC	ENSP00000369974:p.Ala229fs					TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs	p.A229fs			Q8N8B7	TEANC_HUMAN			2	773	+			229			TFIIS central.		A6NI06|B2RDM3	Frame_Shift_Del	DEL	ENST00000380600.1	37	c.686delC																																																																																					0.373	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76909645	76909646	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:76909645_76909646delTT	ENST00000373344.5	-	14	4473_4474	c.4259_4260delAA	c.(4258-4260)aaafs	p.K1420fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTTTTTCTGTTTATAGCTCCG	0.322			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4258-4260)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909645_76909646delTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4259_4260delAA	X.37:g.76909645_76909646delTT	ENSP00000362441:p.Lys1420fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs|ATRX_ENST00000480283.1_5'UTR	p.K1420fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4473_4474	-			1420					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4259_4260delAA	CCDS14434.1																																																																																				0.322	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		50	34						50	34	---	---	---	---
