#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
RAB40C	57799	broad.mit.edu	37	16	677517	677517	+	Silent	SNP	C	C	T	rs375833821		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr16:677517C>T	ENST00000248139.3	+	6	944	c.741C>T	c.(739-741)gcC>gcT	p.A247A	RAB40C_ENST00000539661.1_Silent_p.A247A|RAB40C_ENST00000538492.1_Silent_p.A247A|RAB40C_ENST00000535977.1_Silent_p.A247A	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	247					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCAGCGGGGCCGGGGGCGGCG	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(739-741)gcC>gcT		RAB40C, member RAS oncogene family		C	,,,,	0,4402		0,0,2201	93.0	87.0	89.0		741,741,741,684,741	-9.1	0.0	16		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAB40C	NM_001172663.1,NM_001172664.1,NM_001172665.1,NM_001172666.1,NM_021168.4	,,,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,,,	247/282,247/282,247/282,228/263,247/282	677517	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677517C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.741C>T	16.37:g.677517C>T						RAB40C_ENST00000248139.3_Silent_p.A247A|RAB40C_ENST00000539661.1_Silent_p.A247A|RAB40C_ENST00000538492.1_Silent_p.A247A	p.A247A	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	963	+		Hepatocellular(780;0.0218)	247					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Silent	SNP	ENST00000248139.3	37	c.741C>T	CCDS10413.1																																																																																				0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		4	86	0	0	0	1	0	4	86				
CROCCP2	84809	broad.mit.edu	37	1	16956555	16956555	+	lincRNA	SNP	C	C	T	rs9329440	byFrequency	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:16956555C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCTAGGGCCCGCCGCTCACT	0.607																																						ENST00000412962.1																			0																																																			0							g.chr1:16956555C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956555C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.607	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	26	0	0	0	1	0	7	26				
SCN11A	11280	broad.mit.edu	37	3	38888474	38888474	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:38888474C>T	ENST00000302328.3	-	26	5285	c.5087G>A	c.(5086-5088)gGc>gAc	p.G1696D	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1658D|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1696D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1696					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCATCAGAGCCACCGAGTAC	0.448																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(5086-5088)gGc>gAc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						136.0	135.0	135.0					3																	38888474		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888474C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5087G>A	3.37:g.38888474C>T	ENSP00000307599:p.Gly1696Asp					SCN11A_ENST00000456224.3_Missense_Mutation_p.G1658D|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1696D	p.G1696D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5285	-			1696					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.5087G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566554	0.03910	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.95656	-3.77;-3.77;-3.7	5.07	3.92	0.45320	.	0.392218	0.30311	N	0.009917	T	0.78071	0.4226	N	0.00121	-2.07	0.32519	N	0.536503	B	0.02656	0.0	B	0.01281	0.0	T	0.74757	-0.3557	10	0.17369	T	0.5	.	10.0476	0.42197	0.0:0.0812:0.0:0.9188	.	1696	Q9UI33	SCNBA_HUMAN	D	1696;1696;1658	ENSP00000307599:G1696D;ENSP00000400945:G1696D;ENSP00000416757:G1658D	ENSP00000307599:G1696D	G	-	2	0	SCN11A	38863478	0.999000	0.42202	0.005000	0.12908	0.001000	0.01503	6.244000	0.72391	0.775000	0.33450	-0.312000	0.09012	GGC		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		44	74	0	0	0	1	0	44	74				
GPC5	2262	broad.mit.edu	37	13	92560208	92560208	+	Missense_Mutation	SNP	T	T	C	rs532444694		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr13:92560208T>C	ENST00000377067.3	+	6	1670	c.1298T>C	c.(1297-1299)gTt>gCt	p.V433A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	433					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGCGTGTGGTTGGAAATGGA	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		17176	0.001		0.0	False		,,,				2504	0.0					ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1297-1299)gTt>gCt		glypican 5							72.0	75.0	74.0					13																	92560208		1352	2302	3654	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560208T>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1298T>C	13.37:g.92560208T>C	ENSP00000366267:p.Val433Ala						p.V433A	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			6	1670	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	433					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1298T>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	T	7.337	0.620200	0.14193	.	.	ENSG00000179399	ENST00000377067	T	0.50813	0.73	4.73	3.51	0.40186	.	0.215706	0.37955	N	0.001880	T	0.39462	0.1079	L	0.53249	1.67	0.35478	D	0.797907	B	0.17667	0.023	B	0.22880	0.042	T	0.38845	-0.9642	10	0.20046	T	0.44	-0.3432	8.6378	0.33959	0.0:0.0905:0.0:0.9095	.	433	P78333	GPC5_HUMAN	A	433	ENSP00000366267:V433A	ENSP00000366267:V433A	V	+	2	0	GPC5	91358209	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.507000	0.53371	0.729000	0.32403	0.477000	0.44152	GTT		0.383	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		3	47	0	0	0	1	0	3	47				
UBQLN1	29979	broad.mit.edu	37	9	86284200	86284200	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:86284200T>C	ENST00000376395.4	-	7	1671	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q383R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	383					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCAGTTATTTGTTGCAACAA	0.378																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(1147-1149)cAa>cGa		ubiquilin 1							151.0	132.0	138.0					9																	86284200		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86284200T>C	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1148A>G	9.37:g.86284200T>C	ENSP00000365576:p.Gln383Arg					UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q383R	p.Q383R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			7	1671	-			383					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.1148A>G	CCDS6663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.875409|4.875409	0.91664|0.91664	.|.	.|.	ENSG00000135018|ENSG00000135018	ENST00000526134|ENST00000376395;ENST00000257468	.|T;T	.|0.55052	.|1.07;0.54	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.63046|0.63046	0.2478|0.2478	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P	.|0.37423	.|0.521;0.594	.|P;B	.|0.44518	.|0.452;0.118	T|T	0.63976|0.63976	-0.6515|-0.6515	5|10	.|0.40728	.|T	.|0.16	.|.	15.9769|15.9769	0.80076|0.80076	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|383;383	.|Q9UMX0-2;Q9UMX0	.|.;UBQL1_HUMAN	E|R	3|383	.|ENSP00000365576:Q383R;ENSP00000257468:Q383R	.|ENSP00000257468:Q383R	K|Q	-|-	1|2	0|0	UBQLN1|UBQLN1	85474020|85474020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.694000|7.694000	0.84235|0.84235	2.169000|2.169000	0.68431|0.68431	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.378	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		9	26	0	0	0	1	0	9	26				
DUSP27	92235	broad.mit.edu	37	1	167097663	167097663	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:167097663G>A	ENST00000361200.2	+	6	3461	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	DUSP27_ENST00000443333.1_Missense_Mutation_p.G1099R|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1099R|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1099					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G1099*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAAGAAGAGGGAGAGAAAGA	0.498																																						ENST00000361200.2																			1	Substitution - Nonsense(1)	p.G1099*(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3295-3297)Gga>Aga		dual specificity phosphatase 27 (putative)							40.0	37.0	38.0					1																	167097663		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097663G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3295G>A	1.37:g.167097663G>A	ENSP00000354483:p.Gly1099Arg					DUSP27_ENST00000443333.1_Missense_Mutation_p.G1099R|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1099R|DUSP27_ENST00000485151.1_Intron	p.G1099R			Q5VZP5	DUS27_HUMAN			6	3461	+			1099					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3295G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135734	0.77662	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04758	3.56;3.56;3.56	5.4	5.4	0.78164	.	0.000000	0.49305	D	0.000141	T	0.14700	0.0355	M	0.65975	2.015	0.53005	D	0.999965	D	0.89917	1.0	D	0.74023	0.982	T	0.00759	-1.1578	10	0.87932	D	0	-28.0843	19.1783	0.93612	0.0:0.0:1.0:0.0	.	1099	Q5VZP5	DUS27_HUMAN	R	1099	ENSP00000354483:G1099R;ENSP00000271385:G1099R;ENSP00000404874:G1099R	ENSP00000271385:G1099R	G	+	1	0	DUSP27	165364287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.171000	0.58236	2.532000	0.85374	0.549000	0.68633	GGA		0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		4	14	0	0	0	1	0	4	14				
NLRP2	55655	broad.mit.edu	37	19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1987-1989)cCg>cTg		NLR family, pyrin domain containing 2							59.0	55.0	56.0					19																	55495054		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55495054C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1988C>T	19.37:g.55495054C>T	ENSP00000445135:p.Pro663Leu					NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L	p.P663L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2131	+			663					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1988C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.819475	0.00595	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.73469	-0.7;-0.64;-0.64;-0.7;-0.64;-0.75;-0.64;-0.7	1.94	0.902	0.19290	.	.	.	.	.	T	0.44519	0.1297	N	0.03016	-0.435	0.24743	N	0.99303	B;B;B;B;B	0.19200	0.02;0.034;0.02;0.034;0.02	B;B;B;B;B	0.17098	0.007;0.017;0.005;0.011;0.005	T	0.29150	-1.0021	9	0.28530	T	0.3	.	3.3387	0.07110	0.0:0.2365:0.0:0.7635	.	640;641;660;639;663	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	L	663;639;641;663;641;640;639;660	ENSP00000445135:P663L;ENSP00000375601:P639L;ENSP00000344074:P641L;ENSP00000409370:P663L;ENSP00000440601:P641L;ENSP00000402474:P640L;ENSP00000441133:P639L;ENSP00000263437:P660L	ENSP00000263437:P660L	P	+	2	0	NLRP2	60186866	0.000000	0.05858	0.127000	0.21898	0.004000	0.04260	-0.306000	0.08178	0.230000	0.21059	-0.367000	0.07326	CCG		0.493	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		14	29	0	0	0	1	0	14	29				
ZNF107	51427	broad.mit.edu	37	7	64168484	64168484	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:64168484T>C	ENST00000395391.1	+	4	3177	c.1802T>C	c.(1801-1803)aTt>aCt	p.I601T	ZNF107_ENST00000344930.3_Missense_Mutation_p.I601T|ZNF107_ENST00000423627.1_Missense_Mutation_p.I601T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATAAGATAATTTATACTGGA	0.328																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1801-1803)aTt>aCt		zinc finger protein 107							40.0	47.0	45.0					7																	64168484		2198	4287	6485	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168484T>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1802T>C	7.37:g.64168484T>C	ENSP00000378789:p.Ile601Thr					ZNF107_ENST00000423627.1_Missense_Mutation_p.I601T|ZNF107_ENST00000344930.3_Missense_Mutation_p.I601T	p.I601T			Q9UII5	ZN107_HUMAN			4	3177	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	601						Missense_Mutation	SNP	ENST00000395391.1	37	c.1802T>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.62	2.590222	0.46214	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.16073	2.37;2.37;2.37	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19287	0.0463	N	0.20574	0.59	0.22034	N	0.999403	D	0.60575	0.988	D	0.63113	0.911	T	0.14337	-1.0476	8	.	.	.	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	601	Q9UII5	ZN107_HUMAN	T	601	ENSP00000343443:I601T;ENSP00000400037:I601T;ENSP00000378789:I601T	.	I	+	2	0	ZNF107	63805919	0.003000	0.15002	0.538000	0.28064	0.803000	0.45373	0.395000	0.20850	0.530000	0.28619	0.260000	0.18958	ATT		0.328	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		27	30	0	0	0	1	0	27	30				
CNOT6	57472	broad.mit.edu	37	5	179998424	179998424	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:179998424G>A	ENST00000393356.1	+	13	1877	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	485	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTACACATTTGATTTCAAGGT	0.413																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1453-1455)Gat>Aat		CCR4-NOT transcription complex, subunit 6							128.0	115.0	120.0					5																	179998424		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179998424G>A	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1453G>A	5.37:g.179998424G>A	ENSP00000377024:p.Asp485Asn					CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N	p.D485N			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	13	1877	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	485					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1453G>A	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624729	0.87560	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.29142	1.58;1.58	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.048196	0.85682	D	0.000000	T	0.41305	0.1153	L	0.50919	1.6	0.80722	D	1	P	0.44195	0.828	P	0.48524	0.58	T	0.04307	-1.0961	9	.	.	.	-11.7684	19.6755	0.95930	0.0:0.0:1.0:0.0	.	485	Q9ULM6	CNOT6_HUMAN	N	485	ENSP00000261951:D485N;ENSP00000377024:D485N	.	D	+	1	0	CNOT6	179931030	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.869000	0.99810	2.652000	0.90054	0.563000	0.77884	GAT		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		23	37	0	0	0	1	0	23	37				
CSF2RA	1438	broad.mit.edu	37	X	1409341	1409341	+	Silent	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:1409341C>T	ENST00000381524.3	+	7	771	c.585C>T	c.(583-585)aaC>aaT	p.N195N	CSF2RA_ENST00000355805.2_Silent_p.N195N|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000501036.2_Silent_p.N62N|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.N195N|CSF2RA_ENST00000361536.3_Silent_p.N195N|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Silent_p.N195N|CSF2RA_ENST00000432318.2_Silent_p.N195N|CSF2RA_ENST00000381529.3_Silent_p.N195N|CSF2RA_ENST00000381509.3_Silent_p.N195N|CSF2RA_ENST00000355432.3_Silent_p.N195N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	195					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCTGGTTAACGGAACCAGCC	0.398																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(583-585)aaC>aaT		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)	C	,,,,,,,,	0,4406		0,0,2203	273.0	272.0	273.0		585,585,585,186,585,585,585,585,585	-2.1	0.0	X	dbSNP_134	273	3,8589		0,3,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	,,,,,,,,	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	,,,,,,,,	195/401,195/435,195/411,62/268,195/401,195/401,195/378,195/334,195/234	1409341	3,12995	2203	4296	6499	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409341C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.585C>T	X.37:g.1409341C>T						CSF2RA_ENST00000501036.2_Silent_p.N62N|CSF2RA_ENST00000381529.3_Silent_p.N195N|CSF2RA_ENST00000355432.3_Silent_p.N195N|CSF2RA_ENST00000432318.2_Silent_p.N195N|CSF2RA_ENST00000361536.3_Silent_p.N195N|CSF2RA_ENST00000381500.1_Silent_p.N195N|CSF2RA_ENST00000417535.2_Silent_p.N195N|CSF2RA_ENST00000381509.3_Silent_p.N195N|CSF2RA_ENST00000355805.2_Silent_p.N195N	p.N195N			P15509	CSF2R_HUMAN			7	771	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	195					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.585C>T	CCDS35191.1																																																																																				0.398	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			108	212	0	0	0	1	0	108	212				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	45	0	0	0	1	0	26	45				
NLRP14	338323	broad.mit.edu	37	11	7067952	7067952	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:7067952C>A	ENST00000299481.4	+	5	2358	c.2012C>A	c.(2011-2013)aCa>aAa	p.T671K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	671					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGCTTCATACAAATGAACAC	0.368																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2011-2013)aCa>aAa		NLR family, pyrin domain containing 14							237.0	203.0	215.0					11																	7067952		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7067952C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2012C>A	11.37:g.7067952C>A	ENSP00000299481:p.Thr671Lys						p.T671K	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	5	2358	+			671					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2012C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183170	0.38511	.	.	ENSG00000158077	ENST00000299481	D	0.93604	-3.25	4.41	-0.101	0.13618	.	0.326530	0.22463	N	0.059728	D	0.87954	0.6308	M	0.63208	1.945	0.30246	N	0.794504	B	0.32829	0.386	B	0.28553	0.091	T	0.82248	-0.0551	10	0.72032	D	0.01	.	2.8743	0.05626	0.1735:0.3922:0.3333:0.101	.	671	Q86W24	NAL14_HUMAN	K	671	ENSP00000299481:T671K	ENSP00000299481:T671K	T	+	2	0	NLRP14	7024528	0.888000	0.30383	0.972000	0.41901	0.971000	0.66376	0.416000	0.21198	0.192000	0.20272	0.585000	0.79938	ACA		0.368	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		26	114	1	0	9.86323e-18	1	1.02658e-17	26	114				
CNTN4	152330	broad.mit.edu	37	3	2967440	2967440	+	Silent	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:2967440G>A	ENST00000397461.1	+	12	1719	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000358480.3_Silent_p.R226R|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000418658.1_Silent_p.R445R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	445	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAGGAAGGGATATATTAA	0.343																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1333-1335)agG>agA		contactin 4							104.0	113.0	110.0					3																	2967440		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2967440G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1335G>A	3.37:g.2967440G>A						CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000418658.1_Silent_p.R445R|CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000358480.3_Silent_p.R226R	p.R445R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	12	1719	+		Ovarian(110;0.156)	445			Ig-like C2-type 5.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1335G>A	CCDS43041.1																																																																																				0.343	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			4	76	0	0	0	1	0	4	76				
YWHAG	7532	broad.mit.edu	37	7	75959375	75959375	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:75959375T>C	ENST00000307630.3	-	2	485	c.263A>G	c.(262-264)aAg>aGg	p.K88R		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	88					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTCTCTATCTTCTCCCGGTA	0.532																																						ENST00000307630.3																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(262-264)aAg>aGg		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							249.0	214.0	226.0					7																	75959375		2203	4300	6503	SO:0001583	missense	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959375T>C	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.263A>G	7.37:g.75959375T>C	ENSP00000306330:p.Lys88Arg						p.K88R	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	485	-			88					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	ENST00000307630.3	37	c.263A>G	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140665	0.56936	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.52057	0.68	5.97	5.97	0.96955	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.83312	2.635	0.80722	D	1	P	0.36683	0.565	B	0.40940	0.344	T	0.62544	-0.6832	10	0.52906	T	0.07	-9.3787	15.6412	0.77006	0.0:0.0:0.0:1.0	.	88	P61981	1433G_HUMAN	R	88;66;88	ENSP00000306330:K88R	ENSP00000306330:K88R	K	-	2	0	YWHAG	75797311	1.000000	0.71417	0.903000	0.35520	0.962000	0.63368	8.004000	0.88535	2.289000	0.77006	0.528000	0.53228	AAG		0.532	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		54	88	0	0	0	1	0	54	88				
TLE4	7091	broad.mit.edu	37	9	82336786	82336786	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:82336786C>T	ENST00000376552.2	+	17	2987	c.1969C>T	c.(1969-1971)Cac>Tac	p.H657Y	TLE4_ENST00000265284.6_Missense_Mutation_p.H632Y|TLE4_ENST00000376544.3_Missense_Mutation_p.H588Y|TLE4_ENST00000376537.4_Missense_Mutation_p.H689Y|TLE4_ENST00000376520.4_Missense_Mutation_p.H689Y|TLE4_ENST00000376534.4_Missense_Mutation_p.H294Y	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	657					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCTGCAGCAGCACGACTTCAC	0.557																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2065-2067)Cac>Tac		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							61.0	64.0	63.0					9																	82336786		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82336786C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1969C>T	9.37:g.82336786C>T	ENSP00000365735:p.His657Tyr					TLE4_ENST00000376534.4_Missense_Mutation_p.H294Y|TLE4_ENST00000376537.4_Missense_Mutation_p.H689Y|TLE4_ENST00000376544.3_Missense_Mutation_p.H588Y|TLE4_ENST00000376552.2_Missense_Mutation_p.H657Y|TLE4_ENST00000265284.6_Missense_Mutation_p.H632Y	p.H689Y			O60756	BCE1_HUMAN			18	2893	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2065C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661142	0.67700	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	N	0.21373	0.66	0.80722	D	1	P;P;P;P	0.51240	0.823;0.943;0.457;0.828	B;B;B;B	0.40329	0.326;0.324;0.198;0.24	T	0.04347	-1.0958	10	0.44086	T	0.13	-23.7851	20.5373	0.99239	0.0:1.0:0.0:0.0	.	632;588;689;657	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	Y	657;588;689;689;294;632	ENSP00000365735:H657Y;ENSP00000365727:H588Y;ENSP00000365703:H689Y;ENSP00000365720:H689Y;ENSP00000365717:H294Y;ENSP00000265284:H632Y	ENSP00000265284:H632Y	H	+	1	0	TLE4	81526606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	CAC		0.557	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		9	36	0	0	0	1	0	9	36				
DEFB113	245927	broad.mit.edu	37	6	49936524	49936524	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr6:49936524G>A	ENST00000398718.1	-	2	114	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	39					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R39C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403																																						ENST00000398718.1																			1	Substitution - Missense(1)	p.R39C(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(115-117)Cgt>Tgt		defensin, beta 113							108.0	104.0	106.0					6																	49936524		1880	4108	5988	SO:0001583	missense	245927				defense response to bacterium	extracellular region		g.chr6:49936524G>A	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.115C>T	6.37:g.49936524G>A	ENSP00000381703:p.Arg39Cys						p.R39C	NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN			2	114	-	Lung NSC(77;0.042)		39						Missense_Mutation	SNP	ENST00000398718.1	37	c.115C>T	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181487	0.21787	.	.	ENSG00000214642	ENST00000398718	T	0.13089	2.62	4.15	1.02	0.19986	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.05666	-1.0871	7	.	.	.	-8.2089	6.3984	0.21624	0.0:0.18:0.4521:0.368	.	39	Q30KQ7	DB113_HUMAN	C	39	ENSP00000381703:R39C	.	R	-	1	0	DEFB113	50044483	0.003000	0.15002	0.057000	0.19452	0.022000	0.10575	0.555000	0.23422	0.478000	0.27488	0.557000	0.71058	CGT		0.403	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1			3	38	0	0	0	1	0	3	38				
PDE2A	5138	broad.mit.edu	37	11	72290400	72290400	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:72290400G>A	ENST00000334456.5	-	27	2529	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	PDE2A_ENST00000444035.2_Missense_Mutation_p.R753W|PDE2A_ENST00000540345.1_Missense_Mutation_p.R753W|PDE2A_ENST00000544570.1_Missense_Mutation_p.R755W|PDE2A_ENST00000418754.2_Missense_Mutation_p.R647W|PDE2A_ENST00000376450.3_Missense_Mutation_p.R506W	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	762	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	ATGATGTCCCGCATCAGATCC	0.607																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2284-2286)Cgg>Tgg		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						92.0	81.0	85.0					11																	72290400		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290400G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2284C>T	11.37:g.72290400G>A	ENSP00000334910:p.Arg762Trp					PDE2A_ENST00000376450.3_Missense_Mutation_p.R506W|PDE2A_ENST00000544570.1_Missense_Mutation_p.R755W|PDE2A_ENST00000418754.2_Missense_Mutation_p.R647W|PDE2A_ENST00000444035.2_Missense_Mutation_p.R753W|PDE2A_ENST00000540345.1_Missense_Mutation_p.R753W	p.R762W	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2529	-			762			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2284C>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938735	0.73557	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.37	1.99	0.26369	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.81497	2.545	0.54753	D	0.999988	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	0.83275	0.922;0.993;0.996;0.988;0.995;0.994	D	0.87736	0.2582	10	0.72032	D	0.01	.	13.0679	0.59045	0.0:0.0:0.4561:0.5439	.	647;762;753;755;762;506	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	W	762;506;753;831;755;647;753;141;303	ENSP00000334910:R762W;ENSP00000365633:R506W;ENSP00000411657:R753W;ENSP00000442256:R755W;ENSP00000410310:R647W;ENSP00000446399:R753W;ENSP00000388997:R141W;ENSP00000392457:R303W	ENSP00000334910:R762W	R	-	1	2	PDE2A	71968048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.915000	0.28638	0.568000	0.29311	0.650000	0.86243	CGG		0.607	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		3	40	0	0	0	1	0	3	40				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	47	0	0	0	1	0	19	47				
SPTLC2	9517	broad.mit.edu	37	14	77984443	77984443	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:77984443T>C	ENST00000216484.2	-	11	1700	c.1507A>G	c.(1507-1509)Att>Gtt	p.I503V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	503					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GACTCAATAATTGGGGTGGCA	0.463																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(1507-1509)Att>Gtt		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						100.0	91.0	94.0					14																	77984443		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:77984443T>C	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1507A>G	14.37:g.77984443T>C	ENSP00000216484:p.Ile503Val						p.I503V	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	11	1700	-			503					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1507A>G	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856431	0.51376	.	.	ENSG00000100596	ENST00000216484	D	0.94828	-3.53	5.59	4.43	0.53597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048827	0.85682	D	0.000000	D	0.94059	0.8096	L	0.48642	1.525	0.58432	D	0.999999	P	0.41159	0.74	P	0.50440	0.641	D	0.92521	0.6025	10	0.42905	T	0.14	-16.1558	12.8752	0.57986	0.0:0.0:0.136:0.864	.	503	O15270	SPTC2_HUMAN	V	503	ENSP00000216484:I503V	ENSP00000216484:I503V	I	-	1	0	SPTLC2	77054196	1.000000	0.71417	0.076000	0.20297	0.761000	0.43186	8.040000	0.89188	0.930000	0.37217	0.455000	0.32223	ATT		0.463	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		25	41	0	0	0	1	0	25	41				
ABHD17B	51104	broad.mit.edu	37	9	74489680	74489680	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:74489680T>C	ENST00000333421.6	-	2	428	c.317A>G	c.(316-318)cAa>cGa	p.Q106R	ABHD17B_ENST00000377041.2_Missense_Mutation_p.Q106R	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	106						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCTGCTCATTTGACCAAGATC	0.393																																						ENST00000333421.6																			0											c.(316-318)cAa>cGa		abhydrolase domain containing 17B							161.0	150.0	154.0					9																	74489680		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74489680T>C	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.317A>G	9.37:g.74489680T>C	ENSP00000330222:p.Gln106Arg					ABHD17B_ENST00000377041.2_Missense_Mutation_p.Q106R	p.Q106R	NM_001025780.1	NP_001020951.1					2	428	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.317A>G	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635095	0.87760	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.22336	1.96;1.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71184	0.962;0.972	T	0.64019	-0.6505	10	0.72032	D	0.01	-4.2161	16.8222	0.85835	0.0:0.0:0.0:1.0	.	106;106	Q5VST6;Q5VST6-2	F108B_HUMAN;.	R	106	ENSP00000366240:Q106R;ENSP00000330222:Q106R	ENSP00000330222:Q106R	Q	-	2	0	FAM108B1	73679500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	CAA		0.393	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		34	44	0	0	0	1	0	34	44				
OBSCN	84033	broad.mit.edu	37	1	228451927	228451927	+	Missense_Mutation	SNP	A	A	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:228451927A>C	ENST00000422127.1	+	16	4740	c.4696A>C	c.(4696-4698)Acg>Ccg	p.T1566P	OBSCN_ENST00000570156.2_Missense_Mutation_p.T1750P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1566P|OBSCN_ENST00000359599.6_Missense_Mutation_p.T222P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1566	Ig-like 16.		T -> M (in dbSNP:rs56217040). {ECO:0000269|PubMed:17344846}.		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGAGGTGACGTGGTACAA	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5248-5250)Acg>Ccg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							68.0	72.0	71.0					1																	228451927		2095	4219	6314	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228451927A>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4696A>C	1.37:g.228451927A>C	ENSP00000409493:p.Thr1566Pro					OBSCN_ENST00000359599.6_Missense_Mutation_p.T222P|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1566P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1566P|OBSCN_ENST00000366707.4_5'UTR	p.T1750P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			18	5322	+		Prostate(94;0.0405)	738			Fibronectin type-III 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5248A>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.241729	0.79912	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.68765	-0.35;-0.35;-0.35	4.82	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.393578	0.21471	N	0.073986	T	0.80939	0.4720	M	0.90759	3.145	0.80722	D	1	P;D	0.60575	0.947;0.988	P;P	0.56042	0.79;0.735	T	0.83029	-0.0163	10	0.37606	T	0.19	.	14.5423	0.68005	1.0:0.0:0.0:0.0	.	1566;1566	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	P	1566;1566;222	ENSP00000284548:T1566P;ENSP00000409493:T1566P;ENSP00000352613:T222P	ENSP00000284548:T1566P	T	+	1	0	OBSCN	226518550	0.252000	0.23972	0.999000	0.59377	0.936000	0.57629	0.953000	0.29162	2.029000	0.59856	0.482000	0.46254	ACG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	85	0	0	0	1	0	4	85				
TP53	7157	broad.mit.edu	37	17	7578538	7578538	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578538T>C	ENST00000269305.4	-	5	581	c.392A>G	c.(391-393)aAc>aGc	p.N131S	TP53_ENST00000413465.2_Missense_Mutation_p.N131S|TP53_ENST00000455263.2_Missense_Mutation_p.N131S|TP53_ENST00000359597.4_Missense_Mutation_p.N131S|TP53_ENST00000420246.2_Missense_Mutation_p.N131S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.N131S	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	131	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)	AAACATCTTGTTGAGGGCAGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		47	Deletion - In frame(21)|Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1)	breast(8)|central_nervous_system(7)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|liver(4)|lung(3)|adrenal_gland(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|stomach(1)|biliary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(391-393)aAc>aGc	Other conserved DNA damage response genes	tumor protein p53							46.0	46.0	46.0					17																	7578538		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.chr17:7578538T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.392A>G	17.37:g.7578538T>C	ENSP00000269305:p.Asn131Ser	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.N131S|TP53_ENST00000455263.2_Missense_Mutation_p.N131S|TP53_ENST00000269305.4_Missense_Mutation_p.N131S|TP53_ENST00000359597.4_Missense_Mutation_p.N131S|TP53_ENST00000413465.2_Missense_Mutation_p.N131S	p.N131S	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)	5	524	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	131		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.392A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343460	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99791	-6.76;-6.76;-6.76;-6.76;-6.76;-6.76;-6.76;-6.76	5.48	5.48	0.80851	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	0.99753	0.9901	M	0.87547	2.89	0.80722	D	1	D;D;D;P;D;D;D	0.89917	0.988;0.988;0.979;0.925;0.99;0.993;1.0	P;D;P;P;D;D;D	0.81914	0.62;0.945;0.845;0.455;0.967;0.983;0.995	D	0.97181	0.9851	10	0.72032	D	0.01	-30.8858	13.8301	0.63375	0.0:0.0:0.0:1.0	.	92;131;131;38;131;131;131	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	131;131;131;131;131;131;120;38;38;131	ENSP00000410739:N131S;ENSP00000352610:N131S;ENSP00000269305:N131S;ENSP00000398846:N131S;ENSP00000391127:N131S;ENSP00000391478:N131S;ENSP00000423862:N38S;ENSP00000424104:N131S	ENSP00000269305:N131S	N	-	2	0	TP53	7519263	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	21	0	0	0	1	0	13	21				
CXCR1	3577	broad.mit.edu	37	2	219028901	219028901	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:219028901T>C	ENST00000295683.2	-	2	1154	c.1034A>G	c.(1033-1035)aAt>aGt	p.N345S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	345					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GGAAGAGACATTGACAGACGA	0.478																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(1033-1035)aAt>aGt		chemokine (C-X-C motif) receptor 1							121.0	112.0	115.0					2																	219028901		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219028901T>C	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.1034A>G	2.37:g.219028901T>C	ENSP00000295683:p.Asn345Ser						p.N345S	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	1154	-			345					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.1034A>G	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527534	0.27299	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.65732	-0.17	4.29	-5.76	0.02376	.	1.058520	0.07338	N	0.880255	T	0.36524	0.0970	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18304	-1.0341	10	0.23302	T	0.38	.	6.627	0.22835	0.0:0.2579:0.373:0.3691	.	345	P25024	CXCR1_HUMAN	S	345;289	ENSP00000295683:N345S	ENSP00000295683:N345S	N	-	2	0	CXCR1	218737146	0.033000	0.19621	0.000000	0.03702	0.133000	0.20885	0.157000	0.16402	-0.784000	0.04528	-0.379000	0.06801	AAT		0.478	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		16	25	0	0	0	1	0	16	25				
MIR7162	102466227	broad.mit.edu	37	15	62535627	62535627	+	RNA	SNP	G	G	A	rs199738207		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr15:62535627G>A	ENST00000570077.1	-	0	1311				AC126323.1_ENST00000408214.1_RNA																							TCCCCCTGCCGTGCCCTGACC	0.587																																						ENST00000408214.1																			0																																																			0							g.chr15:62535627G>A																													15.37:g.62535627G>A														0	20	-									RNA	SNP	ENST00000570077.1	37																																																																																						0.587	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			4	9	0	0	0	1	0	4	9				
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:68512673C>T	ENST00000370981.1	-	4	944	c.308G>A	c.(307-309)cGc>cAc	p.R103H	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103H|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577																																						ENST00000370981.1																			2	Substitution - Missense(2)	p.R103L(2)	lung(2)	NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(307-309)cGc>cAc		DIRAS family, GTP-binding RAS-like 3							114.0	123.0	120.0					1																	68512673		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512673C>T	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.308G>A	1.37:g.68512673C>T	ENSP00000360020:p.Arg103His					DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103H|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	p.R103H			O95661	DIRA3_HUMAN			4	944	-			103					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.308G>A	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879693	0.72294	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.70869	-0.52;-0.52	4.48	1.33	0.21861	Small GTP-binding protein domain (1);	.	.	.	.	T	0.59555	0.2202	M	0.84082	2.675	0.29324	N	0.867163	P	0.45827	0.867	P	0.45406	0.479	T	0.55276	-0.8166	9	0.72032	D	0.01	.	6.4371	0.21829	0.0:0.6711:0.1483:0.1807	.	103	O95661	DIRA3_HUMAN	H	103	ENSP00000360020:R103H;ENSP00000378627:R103H	ENSP00000360020:R103H	R	-	2	0	DIRAS3	68285261	1.000000	0.71417	0.002000	0.10522	0.026000	0.11368	4.333000	0.59285	0.048000	0.15891	0.655000	0.94253	CGC		0.577	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		58	93	0	0	0	1	0	58	93				
IL12A-AS1	101928376	broad.mit.edu	37	3	159820584	159820584	+	RNA	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:159820584C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		GTTGAGGCTGCCTGGTATTTG	0.333																																						ENST00000497452.1																			0																																																			0							g.chr3:159820584C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820584C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.333	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			16	25	0	0	0	1	0	16	25				
ATP8B3	148229	broad.mit.edu	37	19	1788945	1788945	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:1788945C>T	ENST00000310127.6	-	24	3258	c.3020G>A	c.(3019-3021)aGc>aAc	p.S1007N	ATP8B3_ENST00000539485.1_Missense_Mutation_p.S1017N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S970N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1007					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCATCATGCTGGCCATGCT	0.632																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3049-3051)aGc>aAc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							42.0	51.0	48.0					19																	1788945		2188	4273	6461	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1788945C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3020G>A	19.37:g.1788945C>T	ENSP00000311336:p.Ser1007Asn					ATP8B3_ENST00000525591.1_Missense_Mutation_p.S970N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1007N	p.S1017N			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3283	-		Hepatocellular(1079;0.137)	1007					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3050G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	c	13.17	2.157020	0.38119	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.70631	-0.5;-0.5;-0.5	4.89	2.68	0.31781	.	0.390349	0.29239	N	0.012727	T	0.54711	0.1875	L	0.38531	1.155	0.25823	N	0.984264	B;B	0.24721	0.11;0.069	B;B	0.20577	0.03;0.024	T	0.49103	-0.8974	10	0.54805	T	0.06	.	4.7621	0.13113	0.1578:0.609:0.152:0.0813	.	1007;970	O60423;Q7Z485	AT8B3_HUMAN;.	N	1007;1017;970	ENSP00000311336:S1007N;ENSP00000443574:S1017N;ENSP00000437115:S970N	ENSP00000311336:S1007N	S	-	2	0	ATP8B3	1739945	0.998000	0.40836	1.000000	0.80357	0.558000	0.35554	1.703000	0.37846	0.448000	0.26722	0.550000	0.68814	AGC		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		3	14	0	0	0	1	0	3	14				
PTRF	284119	broad.mit.edu	37	17	40557199	40557199	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:40557199G>A	ENST00000357037.5	-	2	1098	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCACGCGCCGCAGGCCGCTG	0.622																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(679-681)Cgg>Tgg		polymerase I and transcript release factor							101.0	102.0	101.0					17																	40557199		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557199G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.679C>T	17.37:g.40557199G>A	ENSP00000349541:p.Arg227Trp						p.R227W	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1098	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	227						Missense_Mutation	SNP	ENST00000357037.5	37	c.679C>T	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634726	0.67130	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.60672	0.17	5.35	4.38	0.52667	.	0.216731	0.41823	D	0.000809	T	0.67135	0.2861	L	0.43152	1.355	0.41925	D	0.99053	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	T	0.70753	-0.4786	10	0.87932	D	0	-25.3094	13.5085	0.61497	0.0:0.0:0.6586:0.3414	.	209;227	B4DNU9;Q6NZI2	.;PTRF_HUMAN	W	227;182	ENSP00000349541:R227W	ENSP00000349541:R227W	R	-	1	2	PTRF	37810725	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	3.457000	0.53007	1.235000	0.43724	0.446000	0.29264	CGG		0.622	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		4	105	0	0	0	1	0	4	105				
SLC6A19	340024	broad.mit.edu	37	5	1221296	1221296	+	Silent	SNP	C	C	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:1221296C>A	ENST00000304460.10	+	11	1625	c.1569C>A	c.(1567-1569)ggC>ggA	p.G523G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	523					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATGATCGGCCACAAGCCCA	0.542																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1567-1569)ggC>ggA		solute carrier family 6 (neutral amino acid transporter), member 19							159.0	115.0	130.0					5																	1221296		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1221296C>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1569C>A	5.37:g.1221296C>A							p.G523G	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1625	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		523					A8K446	Silent	SNP	ENST00000304460.10	37	c.1569C>A	CCDS34130.1																																																																																				0.542	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	31	1	0	1	1	1	3	31				
APC	324	broad.mit.edu	37	5	112176256	112176256	+	Silent	SNP	A	A	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:112176256A>C	ENST00000457016.1	+	16	5345	c.4965A>C	c.(4963-4965)acA>acC	p.T1655T	APC_ENST00000508376.2_Silent_p.T1655T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.T1655T			P25054	APC_HUMAN	adenomatous polyposis coli	1655	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACAGCTACATCTCTAAGTG	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4963-4965)acA>acC		adenomatous polyposis coli							83.0	78.0	79.0					5																	112176256		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176256A>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4965A>C	5.37:g.112176256A>C		TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.T1655T|APC_ENST00000508376.2_Silent_p.T1655T	p.T1655T			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5345	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1655			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.4965A>C	CCDS4107.1																																																																																				0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		28	31	0	0	0	1	0	28	31				
PRAMEF11	440560	broad.mit.edu	37	1	12887677	12887677	+	Silent	SNP	A	A	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(178-180)ctT>ctC		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887677A>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.180T>C	1.37:g.12887677A>G							p.L60L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	375	-			60						Silent	SNP	ENST00000535591.1	37	c.180T>C	CCDS53268.1																																																																																				0.463	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	215	0	0	0	1	0	4	215				
PRG4	10216	broad.mit.edu	37	1	186276099	186276099	+	Silent	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:186276099C>T	ENST00000445192.2	+	7	1293	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T323T|PRG4_ENST00000367486.3_Silent_p.T373T|PRG4_ENST00000367483.4_Silent_p.T375T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	416	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1246-1248)acC>acT		proteoglycan 4							92.0	85.0	87.0					1																	186276099		2202	4298	6500	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276099C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1248C>T	1.37:g.186276099C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T323T|PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367486.3_Silent_p.T373T	p.T416T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1293	+			416			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1248C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		3	70	0	0	0	1	0	3	70				
HERC1	8925	broad.mit.edu	37	15	63967167	63967167	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr15:63967167C>T	ENST00000443617.2	-	38	7307	c.7220G>A	c.(7219-7221)gGc>gAc	p.G2407D	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2407					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTCTGTTTGCCCATGTCTTC	0.502																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(7219-7221)gGc>gAc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							153.0	145.0	147.0					15																	63967167		2041	4201	6242	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63967167C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7220G>A	15.37:g.63967167C>T	ENSP00000390158:p.Gly2407Asp						p.G2407D	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			38	7307	-			2407					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.7220G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393634	0.42410	.	.	ENSG00000103657	ENST00000443617	T	0.23552	1.9	5.51	5.51	0.81932	.	0.068192	0.56097	D	0.000033	T	0.17662	0.0424	N	0.24115	0.695	0.52501	D	0.999958	P	0.45348	0.856	B	0.39805	0.31	T	0.04607	-1.0939	10	0.14252	T	0.57	.	15.7521	0.77994	0.0:0.8635:0.1365:0.0	.	2407	Q15751	HERC1_HUMAN	D	2407	ENSP00000390158:G2407D	ENSP00000390158:G2407D	G	-	2	0	HERC1	61754220	0.994000	0.37717	0.996000	0.52242	0.907000	0.53573	4.266000	0.58871	2.589000	0.87451	0.650000	0.86243	GGC		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		45	97	0	0	0	1	0	45	97				
TPH1	7166	broad.mit.edu	37	11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:18051095C>T	ENST00000250018.2	-	4	996	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(433-435)cGa>cAa		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						61.0	65.0	63.0					11																	18051095		2198	4289	6487	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18051095C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.434G>A	11.37:g.18051095C>T	ENSP00000250018:p.Arg145Gln					TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			4	996	-			145					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.434G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702294	0.96812	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99771	-6.71;-6.71;-6.71	5.93	5.93	0.95920	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96669	0.9495	10	0.87932	D	0	-9.0434	20.3528	0.98816	0.0:1.0:0.0:0.0	.	145	P17752	TPH1_HUMAN	Q	145;145;155	ENSP00000250018:R145Q;ENSP00000343550:R145Q;ENSP00000436081:R155Q	ENSP00000250018:R145Q	R	-	2	0	TPH1	18007671	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.567000	0.82357	2.815000	0.96918	0.650000	0.86243	CGA		0.264	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		6	135	0	0	0	1	0	6	135				
PIFO	128344	broad.mit.edu	37	1	111891191	111891191	+	Silent	SNP	A	A	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:111891191A>G	ENST00000369738.4	+	4	677	c.312A>G	c.(310-312)aaA>aaG	p.K104K	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Silent_p.K71K	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	104					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										AGCAGGAAAAACACAAACAAA	0.398																																						ENST00000369738.4																			0											c.(310-312)aaA>aaG		primary cilia formation							268.0	290.0	282.0					1																	111891191		2203	4300	6503	SO:0001819	synonymous_variant	128344							g.chr1:111891191A>G	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.312A>G	1.37:g.111891191A>G						PIFO_ENST00000369737.4_Silent_p.K71K|PIFO_ENST00000484512.1_3'UTR	p.K104K	NM_181643.4	NP_857594.2					4	677	+								D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Silent	SNP	ENST00000369738.4	37	c.312A>G	CCDS833.1																																																																																				0.398	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		14	260	0	0	0	1	0	14	260				
C1orf85	112770	broad.mit.edu	37	1	156262835	156262835	+	Silent	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:156262835T>C	ENST00000362007.1	-	6	1247	c.1221A>G	c.(1219-1221)taA>taG	p.*407*	C1orf85_ENST00000482579.1_5'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	0					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGAGCGGGCCTTAATTTATGG	0.582																																						ENST00000362007.1																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(1219-1221)taA>taG		chromosome 1 open reading frame 85							85.0	81.0	82.0					1																	156262835		2203	4300	6503	SO:0001819	synonymous_variant	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156262835T>C	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.1221A>G	1.37:g.156262835T>C						C1orf85_ENST00000472870.1_5'UTR	p.*407*	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			6	1247	-	Hepatocellular(266;0.158)		0					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	c.1221A>G	CCDS1139.1																																																																																				0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		34	52	0	0	0	1	0	34	52				
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	rs147592698	byFrequency	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													G|||	8	0.00159744	0.0	0.0	5008	,	,		17226	0.0079		0.0	False		,,,				2504	0.0					ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(541-543)cGc>cAc		tripartite motif containing 58		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	57.0	63.0		542	1.3	0.2	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	TRIM58	NM_015431.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	181/487	248028032	1,13005	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028032G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.542G>A	1.37:g.248028032G>A	ENSP00000355437:p.Arg181His						p.R181H	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	590	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	181					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.542G>A	CCDS1636.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.79	2.641317	0.47153	2.27E-4	0.0	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.29	0.21616	.	0.622326	0.13793	N	0.362392	T	0.06826	0.0174	M	0.81179	2.53	0.09310	N	0.999999	B	0.30563	0.285	B	0.23716	0.048	T	0.29458	-1.0011	10	0.72032	D	0.01	.	3.4156	0.07375	0.2901:0.0:0.5304:0.1795	.	181	Q8NG06	TRI58_HUMAN	H	181	ENSP00000355437:R181H	ENSP00000355437:R181H	R	+	2	0	TRIM58	246094655	0.001000	0.12720	0.182000	0.23118	0.606000	0.37113	-0.027000	0.12371	0.170000	0.19704	0.655000	0.94253	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		14	17	0	0	0	1	0	14	17				
MMP10	4319	broad.mit.edu	37	11	102647464	102647464	+	Silent	SNP	G	G	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:102647464G>T	ENST00000279441.4	-	5	702	c.666C>A	c.(664-666)tcC>tcA	p.S222S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	222					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AGAGCCCCAGGGAGTGGCCAA	0.453																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(664-666)tcC>tcA		matrix metallopeptidase 10 (stromelysin 2)							116.0	114.0	115.0					11																	102647464		2203	4299	6502	SO:0001819	synonymous_variant	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647464G>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.666C>A	11.37:g.102647464G>T							p.S222S	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	702	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	222					B2R9X9|Q53HH9	Silent	SNP	ENST00000279441.4	37	c.666C>A	CCDS8321.1																																																																																				0.453	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			17	40	1	0	6.94344e-10	1	7.08231e-10	17	40				
STEAP2	261729	broad.mit.edu	37	7	89856666	89856666	+	Missense_Mutation	SNP	C	C	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:89856666C>G	ENST00000287908.3	+	3	1267	c.874C>G	c.(874-876)Cca>Gca	p.P292A	STEAP2_ENST00000394629.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394626.1_Missense_Mutation_p.P292A|STEAP2_ENST00000394621.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394622.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394632.1_Missense_Mutation_p.P292A|STEAP2_ENST00000402625.2_Missense_Mutation_p.P292A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	292	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TAGGAGATTTCCACCTTGGTT	0.438																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(874-876)Cca>Gca		STEAP family member 2, metalloreductase							88.0	88.0	88.0					7																	89856666		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856666C>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.874C>G	7.37:g.89856666C>G	ENSP00000287908:p.Pro292Ala					STEAP2_ENST00000394621.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394629.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394622.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394626.1_Missense_Mutation_p.P292A|STEAP2_ENST00000394632.1_Missense_Mutation_p.P292A|STEAP2_ENST00000402625.2_Missense_Mutation_p.P292A	p.P292A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1267	+	all_hematologic(106;0.112)		292			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.874C>G	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709211	0.89018	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	6.04	6.04	0.98038	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.96081	0.8723	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.95255	0.8363	9	.	.	.	-13.0466	20.5948	0.99439	0.0:1.0:0.0:0.0	.	292;292;292;292	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	A	292	ENSP00000287908:P292A;ENSP00000378123:P292A;ENSP00000378120:P292A;ENSP00000378128:P292A;ENSP00000378119:P292A;ENSP00000384191:P292A;ENSP00000378125:P292A	.	P	+	1	0	STEAP2	89694602	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	CCA		0.438	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		5	166	0	0	0	1	0	5	166				
RAB11FIP1	80223	broad.mit.edu	37	8	37729690	37729690	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr8:37729690G>A	ENST00000330843.4	-	4	2642	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	877					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGAGGCTGGCGCACCACACGT	0.617																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(2629-2631)gCg>gTg		RAB11 family interacting protein 1 (class I)							38.0	39.0	39.0					8																	37729690		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729690G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2630C>T	8.37:g.37729690G>A	ENSP00000331342:p.Ala877Val					RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.A877V	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2642	-		Lung NSC(58;0.118)|all_lung(54;0.195)	877					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2630C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	2.191	-0.385230	0.04966	.	.	ENSG00000156675	ENST00000330843	T	0.11604	2.76	3.74	-7.47	0.01365	.	1.494520	0.04268	N	0.341518	T	0.03959	0.0111	N	0.08118	0	0.09310	N	0.999999	B;B	0.17268	0.021;0.002	B;B	0.06405	0.002;0.0	T	0.34502	-0.9826	10	0.30078	T	0.28	.	1.7676	0.03005	0.2007:0.1151:0.4352:0.249	.	206;877	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	V	877	ENSP00000331342:A877V	ENSP00000331342:A877V	A	-	2	0	RAB11FIP1	37848848	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.045000	0.00631	-1.617000	0.01570	-0.229000	0.12294	GCG		0.617	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	36	0	0	0	1	0	5	36				
IQCG	84223	broad.mit.edu	37	3	197670672	197670672	+	Missense_Mutation	SNP	C	C	T	rs374525402		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:197670672C>T	ENST00000265239.6	-	4	683	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.E87K|IQCG_ENST00000455191.1_Missense_Mutation_p.E87K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	87						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTCTCCCTTCGTACTGAACG	0.453																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(259-261)Gaa>Aaa		IQ motif containing G		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	135.0	134.0	134.0		259,259	5.4	0.1	3		134	0,8600		0,0,4300	no	missense,missense	IQCG	NM_001134435.1,NM_032263.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	87/444,87/444	197670672	1,13005	2203	4300	6503	SO:0001583	missense	84223							g.chr3:197670672C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.259G>A	3.37:g.197670672C>T	ENSP00000265239:p.Glu87Lys					IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.E87K|IQCG_ENST00000453254.1_Missense_Mutation_p.E87K	p.E87K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	683	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		87					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.259G>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952373	0.73787	2.27E-4	0.0	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.55930	0.53;0.53;0.49;0.49	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000004	T	0.68449	0.3002	M	0.79475	2.455	0.31601	N	0.652662	D;D	0.69078	0.995;0.997	P;P	0.58454	0.839;0.741	T	0.76016	-0.3113	10	0.72032	D	0.01	-27.0079	13.9182	0.63914	0.0:0.848:0.152:0.0	.	87;87	C9JKX8;Q9H095	.;IQCG_HUMAN	K	87;87;87;68	ENSP00000265239:E87K;ENSP00000407736:E87K;ENSP00000389897:E87K;ENSP00000406411:E68K	ENSP00000265239:E87K	E	-	1	0	IQCG	199155069	0.094000	0.21725	0.127000	0.21898	0.004000	0.04260	0.882000	0.28186	2.559000	0.86315	0.551000	0.68910	GAA		0.453	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		30	52	0	0	0	1	0	30	52				
MUC16	94025	broad.mit.edu	37	19	9015351	9015351	+	Missense_Mutation	SNP	G	G	A	rs201449501	byFrequency	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:9015351G>A	ENST00000397910.4	-	30	38440	c.38237C>T	c.(38236-38238)cCt>cTt	p.P12746L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12748	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						AGAGTACAGAGGGCCAACACT	0.512													-|||	7	0.00139776	0.0008	0.0	5008	,	,		20370	0.003		0.001	False		,,,				2504	0.002					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.(38236-38238)cCt>cTt		mucin 16, cell surface associated		G	LEU/PRO	0,4000		0,0,2000	153.0	130.0	137.0		38237	-1.6	0.0	19	dbSNP_134	137	4,8338		0,4,4167	no	missense	MUC16	NM_024690.2	98	0,4,6167	AA,AG,GG		0.048,0.0,0.0324	possibly-damaging	12746/14508	9015351	4,12338	2000	4171	6171	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015351G>A	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.38237C>T	19.37:g.9015351G>A	ENSP00000381008:p.Pro12746Leu						p.P12746L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			30	38440	-			12748	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38237C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.365631	0.24684	0.0	4.8E-4	ENSG00000181143	ENST00000397910	T	0.38077	1.16	2.82	-1.58	0.08479	.	.	.	.	.	T	0.39759	0.1090	.	.	.	.	.	.	P	0.50710	0.938	P	0.50270	0.636	T	0.52419	-0.8578	7	0.87932	D	0	.	8.0693	0.30680	0.0:0.0:0.3447:0.6553	.	12746	B5ME49	.	L	12746	ENSP00000381008:P12746L	ENSP00000381008:P12746L	P	-	2	0	MUC16	8876351	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.413000	0.21148	-0.376000	0.07943	0.305000	0.20034	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	59	0	0	0	1	0	3	59				
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_ENST00000396512.3_5'Flank|PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000216254.4_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			1	Substitution - Missense(1)	p.R57S(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(169-171)Cgc>Tgc		PHD finger protein 5A							104.0	85.0	91.0					22																	41863526		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863526G>A	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.169C>T	22.37:g.41863526G>A	ENSP00000216252:p.Arg57Cys					PHF5A_ENST00000491254.1_5'UTR	p.R57C	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	240	-			57					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.169C>T	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704285	0.88924	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.89658	3.05	0.80722	D	1	B	0.27229	0.172	B	0.31245	0.126	T	0.79035	-0.1968	9	0.51188	T	0.08	-18.9427	19.8379	0.96666	0.0:0.0:1.0:0.0	.	57	Q7RTV0	PHF5A_HUMAN	C	57	.	ENSP00000216252:R57C	R	-	1	0	PHF5A	40193472	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.547000	0.98100	2.765000	0.95021	0.655000	0.94253	CGC		0.507	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		8	20	0	0	0	1	0	8	20				
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	5						4	5	---	---	---	---
PPP2R2D	55844	broad.mit.edu	37	10	133758825	133758825	+	Start_Codon_Del	DEL	A	A	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr10:133758825delA	ENST00000422256.2	+	0	486				PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GCCTGCTAACATGGAGGAGCT	0.527																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13								protein phosphatase 2, regulatory subunit B, delta							122.0	122.0	122.0					10																	133758825		2203	4300	6503	SO:0001582	initiator_codon_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133758825delA	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277		10.37:g.133758825delA						PPP2R2D_ENST00000470416.1_3'UTR				Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	0	486	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)						A8KAK0|Q5SQJ2|Q9P1Y7	Translation_Start_Site	DEL	ENST00000422256.2	37																																																																																						0.527	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		37	45						37	45	---	---	---	---
AP5B1	91056	broad.mit.edu	37	11	65546069	65546069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:65546069delC	ENST00000532090.2	-	2	2105	c.1895delG	c.(1894-1896)ggcfs	p.G632fs		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	632					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						AAGCGAGGGGCCCAGGGCCAC	0.677																																						ENST00000532090.2																			0				lung(1)	1						c.(1894-1896)gcfs		adaptor-related protein complex 5, beta 1 subunit							8.0	11.0	10.0					11																	65546069		2048	4175	6223	SO:0001589	frameshift_variant	91056						protein binding	g.chr11:65546069delC	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1895delG	11.37:g.65546069delC	ENSP00000454303:p.Gly632fs						p.G632fs	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	2105	-			575					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Frame_Shift_Del	DEL	ENST00000532090.2	37	c.1895delG	CCDS58146.1																																																																																				0.677	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		2	4						2	4	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917177	26917178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:26917177_26917178insG	ENST00000539517.2	-	5	1828_1829	c.1511_1512insC	c.(1510-1512)cagfs	p.Q504fs	NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.Q382fs|NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.Q480fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	507					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AACCCACTTTCTGAGGATTGGC	0.431																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1510-1512)caafs		neuro-oncological ventral antigen 1																																				SO:0001589	frameshift_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917177_26917178insG	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1511_1512insC	14.37:g.26917177_26917178insG	ENSP00000438875:p.Gln504fs					NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.Q480fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.Q382fs	p.Q504fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1828_1829	-			507					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Ins	INS	ENST00000539517.2	37	c.1511_1512insC	CCDS32061.1																																																																																				0.431	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		19	43						19	43	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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						GGCTGTGGTCTCAATCAGTTTTTT	0.368			"""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.(1078-1083)agfs		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:76939666_76939669delTCAA	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.1079_1082delTTGA	X.37:g.76939666_76939669delTCAA	ENSP00000362441:p.Ile360fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	p.IE360fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1293_1296	-			360					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1079_1082delTTGA	CCDS14434.1																																																																																				0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		72	23						72	23	---	---	---	---
