#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_ACHILLES_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
YRDC	79693	broad.mit.edu	37	1	38269643	38269643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:38269643A>G	ENST00000373044.2	-	5	798	c.794T>C	c.(793-795)cTc>cCc	p.L265P		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	265					negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)	p.L265P(1)		lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTCTGTTGGAGGATGGCTGT	0.557																																							uc001cca.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(793-795)CTC>CCC		ischemia/reperfusion inducible protein							151.0	119.0	130.0					1																	38269643		2203	4300	6503	SO:0001583	missense	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38269643A>G		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.794T>C	1.37:g.38269643A>G	ENSP00000362135:p.Leu265Pro						p.L265P	NM_024640	NP_078916	Q86U90	YRDC_HUMAN			5	807	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	265					Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	c.794T>C	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975355	0.74360	.	.	ENSG00000196449	ENST00000373044	.	.	.	5.89	5.89	0.94794	DHBP synthase RibB-like alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83964	0.0323	9	0.87932	D	0	.	14.0568	0.64774	1.0:0.0:0.0:0.0	.	265	Q86U90	YRDC_HUMAN	P	265	.	ENSP00000362135:L265P	L	-	2	0	YRDC	38042230	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.658000	0.68003	2.254000	0.74563	0.533000	0.62120	CTC		0.557	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		3	108	0	0	0	0.004672	0	3	108				
TBX15	6913	broad.mit.edu	37	1	119474252	119474252	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:119474252T>C	ENST00000369429.3	-	2	418	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	TBX15_ENST00000207157.3_Missense_Mutation_p.K31E			Q96SF7	TBX15_HUMAN	T-box 15	137					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K31E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCTTTGGTGATGATC	0.448																																							uc001ehl.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)	2						c.(91-93)AAA>GAA		T-box 15							102.0	90.0	94.0					1																	119474252		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474252T>C	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.409A>G	1.37:g.119474252T>C	ENSP00000358437:p.Lys137Glu						p.K31E	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	406	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	137			T-box.		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.91A>G		.	.	.	.	.	.	.	.	.	.	T	26.5	4.744507	0.89663	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.90732	-2.72;-2.72	5.97	5.97	0.96955	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.099639	0.64402	D	0.000002	D	0.96473	0.8849	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97523	1.0074	10	0.87932	D	0	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	137	Q96SF7	TBX15_HUMAN	E	31;137	ENSP00000207157:K31E;ENSP00000358437:K137E	ENSP00000207157:K31E	K	-	1	0	TBX15	119275775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.673000	0.83973	2.285000	0.76669	0.477000	0.44152	AAA		0.448	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		5	85	0	0	0	0.014758	0	5	85				
TDRD10	126668	broad.mit.edu	37	1	154493861	154493861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:154493861G>C	ENST00000368480.3	+	6	360	c.275G>C	c.(274-276)gGt>gCt	p.G92A	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.G92A			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G92A(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCTGAATGGTAAACTCTTC	0.507																																							uc009wow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(274-276)GGT>GCT		tudor domain containing 10 isoform a							154.0	163.0	160.0					1																	154493861		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154493861G>C	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.275G>C	1.37:g.154493861G>C	ENSP00000357465:p.Gly92Ala					TDRD10_uc001ffd.2_Missense_Mutation_p.G92A|TDRD10_uc001ffe.2_Missense_Mutation_p.G13A	p.G92A	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1113	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		92			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.275G>C	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302379	0.60195	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	D;D	0.82081	-1.57;-1.57	3.79	3.79	0.43588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	D	0.87047	0.6080	M	0.86268	2.805	0.09310	N	1	D;D	0.67145	0.996;0.995	P;P	0.61397	0.888;0.821	T	0.78558	-0.2158	9	0.87932	D	0	-11.428	11.3003	0.49302	0.0:0.0:1.0:0.0	.	92;92	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	A	92	ENSP00000357467:G92A;ENSP00000357465:G92A	ENSP00000357465:G92A	G	+	2	0	TDRD10	152760485	0.291000	0.24352	0.016000	0.15963	0.327000	0.28475	3.455000	0.52993	2.106000	0.64143	0.557000	0.71058	GGT		0.507	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		10	422	0	0	0	0.006214	0	10	422				
CASQ1	844	broad.mit.edu	37	1	160167365	160167365	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:160167365C>A	ENST00000368078.3	+	7	985	c.789C>A	c.(787-789)acC>acA	p.T263T	CASQ1_ENST00000368079.3_Silent_p.T257T|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	263					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAGATCAACCCTGAGGAAAC	0.562																																							uc010pja.1		NA																	0				central_nervous_system(1)	1						c.(787-789)ACC>ACA		calsequestrin 1							121.0	118.0	119.0					1																	160167365		2203	4300	6503	SO:0001819	synonymous_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160167365C>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.789C>A	1.37:g.160167365C>A							p.T263T	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1046	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		263					B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	c.789C>A	CCDS1198.2																																																																																				0.562	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		4	134	1	0	0.00024832	0.009096	0.00026978	4	134				
DDIT4	54541	broad.mit.edu	37	10	74033978	74033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:74033978C>T	ENST00000307365.3	+	2	205	c.4C>T	c.(4-6)Cct>Tct	p.P2S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	2					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.P2S(2)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCTCACCATGCCTAGCCTTTG	0.647																																							uc001jsx.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(4-6)CCT>TCT		RTP801							94.0	91.0	92.0					10																	74033978		2203	4300	6503	SO:0001583	missense	54541				apoptosis			g.chr10:74033978C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.4C>T	10.37:g.74033978C>T	ENSP00000307305:p.Pro2Ser						p.P2S	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			2	206	+			2					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.4C>T	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194028	0.78902	.	.	ENSG00000168209	ENST00000307365	T	0.55588	0.51	5.51	5.51	0.81932	.	0.117788	0.64402	D	0.000020	T	0.57446	0.2054	L	0.29908	0.895	0.38212	D	0.940503	D	0.69078	0.997	P	0.60789	0.879	T	0.63319	-0.6664	10	0.87932	D	0	-10.8451	13.3455	0.60571	0.1578:0.8422:0.0:0.0	.	2	Q9NX09	DDIT4_HUMAN	S	2	ENSP00000307305:P2S	ENSP00000307305:P2S	P	+	1	0	DDIT4	73703984	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.883000	0.48554	2.736000	0.93811	0.655000	0.94253	CCT		0.647	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		48	108	0	0	0	0.01441	0	48	108				
SLC22A6	9356	broad.mit.edu	37	11	62751060	62751060	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:62751060G>T	ENST00000377871.3	-	3	843	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	SLC22A6_ENST00000421062.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L193I|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	193					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L193I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCCGAGAGGAGCCGGAAGGCG	0.612																																							uc001nwk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(577-579)CTC>ATC		solute carrier family 22 member 6 isoform a							54.0	46.0	48.0					11																	62751060		2201	4297	6498	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751060G>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.577C>A	11.37:g.62751060G>T	ENSP00000367102:p.Leu193Ile					SLC22A6_uc001nwl.2_Missense_Mutation_p.L193I|SLC22A6_uc001nwj.2_Missense_Mutation_p.L193I|SLC22A6_uc001nwm.2_Missense_Mutation_p.L193I	p.L193I	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			3	884	-			193			Helical; (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.577C>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982133	0.53827	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.53	1.31	0.21738	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.196882	0.43747	D	0.000540	T	0.47192	0.1432	L	0.35414	1.06	0.28305	N	0.922935	B;B;B;B	0.23058	0.064;0.064;0.079;0.064	B;B;B;B	0.36766	0.149;0.149;0.232;0.096	T	0.48937	-0.8990	10	0.62326	D	0.03	.	6.6985	0.23213	0.5715:0.0:0.4285:0.0	.	193;193;193;193	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	I	193;172;193;193;193	ENSP00000353597:L193I;ENSP00000367102:L193I;ENSP00000396401:L193I;ENSP00000404441:L193I	ENSP00000353597:L193I	L	-	1	0	SLC22A6	62507636	1.000000	0.71417	0.981000	0.43875	0.911000	0.54048	3.371000	0.52379	0.257000	0.21650	0.650000	0.86243	CTC		0.612	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		7	14	1	0	0.00307968	0.00308	0.00330502	7	14				
FAT3	120114	broad.mit.edu	37	11	92085756	92085756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:92085756C>T	ENST00000298047.6	+	1	495	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	FAT3_ENST00000525166.1_Missense_Mutation_p.P10S|FAT3_ENST00000409404.2_Missense_Mutation_p.P160S|FAT3_ENST00000541502.1_Missense_Mutation_p.P160S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	160	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P160S(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGTTTTCACCCACAACATA	0.413										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|pancreas(1)	5						c.(478-480)CCC>TCC		FAT tumor suppressor homolog 3							64.0	63.0	63.0					11																	92085756		1873	4116	5989	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085756C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.478C>T	11.37:g.92085756C>T	ENSP00000298047:p.Pro160Ser	TCGA Ovarian(4;0.039)					p.P160S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	495	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	160			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.478C>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.310194	0.81358	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.53	5.53	0.82687	.	.	.	.	.	T	0.75510	0.3859	M	0.71296	2.17	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.71846	-0.4469	9	0.33141	T	0.24	.	18.8073	0.92043	0.0:1.0:0.0:0.0	.	160	Q8TDW7-3	.	S	160;160;160;10	ENSP00000298047:P160S;ENSP00000387040:P160S;ENSP00000443786:P160S;ENSP00000432586:P10S	ENSP00000298047:P160S	P	+	1	0	FAT3	91725404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.756000	0.94617	0.655000	0.94253	CCC		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		24	72	0	0	0	0.005443	0	24	72				
SORL1	6653	broad.mit.edu	37	11	121495876	121495876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:121495876C>T	ENST00000260197.7	+	46	6383	c.6254C>T	c.(6253-6255)tCc>tTc	p.S2085F	SORL1_ENST00000525532.1_Missense_Mutation_p.S1029F|SORL1_ENST00000532694.1_Missense_Mutation_p.S931F|SORL1_ENST00000527934.1_Missense_Mutation_p.S700F|SORL1_ENST00000534286.1_Missense_Mutation_p.S995F	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2085	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.S2085F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTAAAATTTCCAACCTGAAG	0.428																																							uc001pxx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(6253-6255)TCC>TTC		sortilin-related receptor containing LDLR class							164.0	155.0	158.0					11																	121495876		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121495876C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6254C>T	11.37:g.121495876C>T	ENSP00000260197:p.Ser2085Phe					SORL1_uc010rzp.1_Missense_Mutation_p.S931F|SORL1_uc010rzq.1_Missense_Mutation_p.S700F	p.S2085F	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	46	6334	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	2085			Extracellular (Potential).|Fibronectin type-III 6.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.6254C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997514	0.74818	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.32	5.32	0.75619	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.547018	0.19588	N	0.110696	T	0.61426	0.2346	L	0.27053	0.805	0.47214	D	0.999356	D;D	0.71674	0.998;0.996	D;P	0.63488	0.915;0.853	T	0.65084	-0.6254	10	0.66056	D	0.02	.	19.007	0.92856	0.0:1.0:0.0:0.0	.	700;2085	E9PKB0;Q92673	.;SORL_HUMAN	F	2085;1029;931;995;700	ENSP00000260197:S2085F;ENSP00000434634:S1029F;ENSP00000432131:S931F;ENSP00000436447:S995F;ENSP00000435405:S700F	ENSP00000260197:S2085F	S	+	2	0	SORL1	121001086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.672000	0.61597	2.476000	0.83614	0.655000	0.94253	TCC		0.428	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		7	250	0	0	0	0.006214	0	7	250				
OVCH1	341350	broad.mit.edu	37	12	29598221	29598221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:29598221C>G	ENST00000318184.5	-	23	2870	c.2871G>C	c.(2869-2871)ttG>ttC	p.L957F	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	957	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L957F(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAGGACTTTCAAGACAATAT	0.353																																							uc001rix.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2869-2871)TTG>TTC		ovochymase 1 precursor							94.0	89.0	90.0					12																	29598221		1833	4087	5920	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29598221C>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2871G>C	12.37:g.29598221C>G	ENSP00000326708:p.Leu957Phe						p.L957F	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			23	2871	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		957			CUB 3.			Missense_Mutation	SNP	ENST00000318184.5	37	c.2871G>C		.	.	.	.	.	.	.	.	.	.	C	0.282	-0.985640	0.02180	.	.	ENSG00000187950	ENST00000318184	D	0.87334	-2.24	2.33	0.15	0.14883	CUB (3);	.	.	.	.	T	0.62889	0.2465	N	0.02539	-0.55	0.19945	N	0.999947	B	0.02656	0.0	B	0.01281	0.0	T	0.51973	-0.8637	9	0.15499	T	0.54	.	2.3361	0.04248	0.3012:0.3479:0.351:0.0	.	957	Q7RTY7	OVCH1_HUMAN	F	957	ENSP00000326708:L957F	ENSP00000326708:L957F	L	-	3	2	OVCH1	29489488	0.424000	0.25490	0.941000	0.38009	0.217000	0.24651	0.246000	0.18160	0.040000	0.15660	-0.147000	0.13772	TTG		0.353	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		8	97	0	0	0	0.006214	0	8	97				
MYH7	4625	broad.mit.edu	37	14	23895200	23895200	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:23895200C>T	ENST00000355349.3	-	19	2297	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	712	Myosin motor.		R -> L (in CMH1). {ECO:0000269|PubMed:10679957}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTAGAGGATGCGGTTGGGGAA	0.617																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4	GRCh37	CM994128	MYH7	M		c.(2134-2136)CGC>CAC		myosin, heavy chain 7, cardiac muscle, beta							60.0	59.0	59.0					14																	23895200		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23895200C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2135G>A	14.37:g.23895200C>T	ENSP00000347507:p.Arg712His						p.R712H	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	19	2241	-	all_cancers(95;2.54e-05)		712		R -> L (in CMH1).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2135G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236993	0.95240	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.97791	-4.54	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.99130	0.9700	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.99201	1.0873	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	712	P12883	MYH7_HUMAN	H	712	ENSP00000347507:R712H	ENSP00000347507:R712H	R	-	2	0	MYH7	22965040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.692000	0.68256	2.612000	0.88384	0.655000	0.94253	CGC		0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	125	0	0	0	0.009096	0	4	125				
SYNE2	23224	broad.mit.edu	37	14	64518664	64518664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:64518664G>T	ENST00000344113.4	+	48	8245	c.8033G>T	c.(8032-8034)gGa>gTa	p.G2678V	SYNE2_ENST00000358025.3_Missense_Mutation_p.G2678V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2711V|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2678					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G2678V(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAGCATGGATTTTCTGTT	0.433																																							uc001xgm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8032-8034)GGA>GTA		spectrin repeat containing, nuclear envelope 2							92.0	93.0	92.0					14																	64518664		1911	4118	6029	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518664G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8033G>T	14.37:g.64518664G>T	ENSP00000341781:p.Gly2678Val					SYNE2_uc001xgl.2_Missense_Mutation_p.G2678V	p.G2678V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8263	+			2678			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8033G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	3.605	-0.080721	0.07141	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55588	0.89;0.89;0.51	5.68	1.81	0.25067	.	1.114640	0.06769	N	0.783179	T	0.39384	0.1076	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.34015	0.309;0.435	B;B	0.38616	0.143;0.277	T	0.37842	-0.9688	10	0.28530	T	0.3	.	9.6642	0.39974	0.3049:0.0:0.6951:0.0	.	2678;2678	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	2678;2678;2711;2711	ENSP00000350719:G2678V;ENSP00000341781:G2678V;ENSP00000452570:G2711V	ENSP00000261678:G2711V	G	+	2	0	SYNE2	63588417	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.936000	0.28938	0.505000	0.28104	0.563000	0.77884	GGA		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		96	232	1	0	7.30829e-53	0.01441	8.35233e-53	96	232				
MTMR10	54893	broad.mit.edu	37	15	31233830	31233830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:31233830G>A	ENST00000435680.1	-	16	2274	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	726							phosphatase activity (GO:0016791)	p.T726I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CGAGGTGTCGGTGTGGTGAGG	0.572																																							uc001zfh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2176-2178)ACC>ATC		myotubularin related protein 10							31.0	32.0	32.0					15																	31233830		2016	4184	6200	SO:0001583	missense	54893						phosphatase activity	g.chr15:31233830G>A	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.2177C>T	15.37:g.31233830G>A	ENSP00000402537:p.Thr726Ile					MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.T140I|MTMR10_uc001zfg.1_Missense_Mutation_p.T307I|MTMR10_uc010azx.1_Missense_Mutation_p.T478I|MTMR10_uc001zfi.1_3'UTR	p.T726I	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	16	2275	-		all_lung(180;2.81e-11)	726					Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.2177C>T	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770234	0.00645	.	.	ENSG00000166912	ENST00000435680	D	0.95238	-3.65	0.468	-0.935	0.10423	.	.	.	.	.	D	0.82618	0.5076	N	0.08118	0	0.09310	N	0.999999	B	0.15473	0.013	B	0.01281	0.0	T	0.67373	-0.5687	8	0.21540	T	0.41	.	.	.	.	.	726	Q9NXD2	MTMRA_HUMAN	I	726	ENSP00000402537:T726I	ENSP00000402537:T726I	T	-	2	0	MTMR10	29021122	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.896000	0.00706	-1.335000	0.02241	-1.337000	0.01257	ACC		0.572	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		4	29	0	0	0	0.009096	0	4	29				
TRPM1	4308	broad.mit.edu	37	15	31294527	31294527	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:31294527G>C	ENST00000256552.6	-	28	4523	c.4376C>G	c.(4375-4377)tCc>tGc	p.S1459C	TRPM1_ENST00000542188.1_Missense_Mutation_p.S1476C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1437C	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.S1437C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGCTTCTGGACTTCATTGT	0.453																																							uc001zfm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(4309-4311)TCC>TGC		transient receptor potential cation channel,							110.0	101.0	104.0					15																	31294527		1851	4097	5948	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294527G>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4376C>G	15.37:g.31294527G>C	ENSP00000256552:p.Ser1459Cys					TRPM1_uc010azy.2_Missense_Mutation_p.S1344C|TRPM1_uc001zfl.2_RNA	p.S1437C	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4438	-		all_lung(180;1.92e-11)	1437			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4310C>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737254	0.49045	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61040	0.15;0.14;0.17	4.91	4.91	0.64330	.	0.175545	0.40222	N	0.001146	T	0.67543	0.2904	L	0.34521	1.04	0.51012	D	0.999908	D;D	0.76494	0.997;0.999	D;D	0.71414	0.973;0.94	T	0.72050	-0.4407	10	0.87932	D	0	-22.0114	18.1275	0.89590	0.0:0.0:1.0:0.0	.	1431;1437	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1437;1476;1459;1437	ENSP00000380897:S1437C;ENSP00000437849:S1476C;ENSP00000256552:S1459C	ENSP00000256552:S1459C	S	-	2	0	TRPM1	29081819	1.000000	0.71417	0.999000	0.59377	0.163000	0.22366	5.634000	0.67833	2.260000	0.74910	0.650000	0.86243	TCC		0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		53	162	0	0	0	0.01441	0	53	162				
LRRC57	255252	broad.mit.edu	37	15	42840384	42840384	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:42840384T>C	ENST00000323443.2	-	2	510	c.143A>G	c.(142-144)aAc>aGc	p.N48S	HAUS2_ENST00000260372.3_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.N48S|LRRC57_ENST00000397130.3_Missense_Mutation_p.N48S|HAUS2_ENST00000568876.1_5'Flank|HAUS2_ENST00000568846.2_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	48						extracellular vesicular exosome (GO:0070062)		p.N48S(2)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTCGATCTTGTTGTTGGACAA	0.532																																							uc001zqd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(142-144)AAC>AGC		leucine rich repeat containing 57							144.0	143.0	143.0					15																	42840384		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42840384T>C	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.143A>G	15.37:g.42840384T>C	ENSP00000326817:p.Asn48Ser					HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.N48S	p.N48S	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	2	511	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	48			LRR 1.		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.143A>G	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000575	0.93227	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.27890	1.64;1.64	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74982	-0.3478	10	0.72032	D	0.01	.	15.3268	0.74172	0.0:0.0:0.0:1.0	.	48	Q8N9N7	LRC57_HUMAN	S	48	ENSP00000326817:N48S;ENSP00000380319:N48S	ENSP00000326817:N48S	N	-	2	0	LRRC57	40627676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.630000	0.83225	2.089000	0.63090	0.460000	0.39030	AAC		0.532	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		21	302	0	0	0	0.021523	0	21	302				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941329	TP53	M		c.(586-588)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	p.R196*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	101	0	0	0	0.014758	0	5	101				
CCL2	6347	broad.mit.edu	37	17	32583777	32583777	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:32583777C>T	ENST00000225831.4	+	3	296	c.231C>T	c.(229-231)gaC>gaT	p.D77D	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	77					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.D77D(2)		kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	TCTGTGCTGACCCCAAGCAGA	0.517																																							uc002hhy.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(229-231)GAC>GAT		small inducible cytokine A2 precursor	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)						111.0	91.0	98.0					17																	32583777		2203	4300	6503	SO:0001819	synonymous_variant	6347				angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	g.chr17:32583777C>T	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.231C>T	17.37:g.32583777C>T							p.D77D	NM_002982	NP_002973	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	3	304	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	77	Missing: 90% reduction in activity.|Missing: 83% reduction in activity.				B2R4V3|Q9UDF3	Silent	SNP	ENST00000225831.4	37	c.231C>T	CCDS11277.1																																																																																				0.517	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		29	68	0	0	0	0.008361	0	29	68				
C3	718	broad.mit.edu	37	19	6710828	6710828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:6710828G>A	ENST00000245907.6	-	13	1600	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	503					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A503V(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTGGCGTCCCGCCTTCAACAG	0.662																																							uc002mfm.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)	5						c.(1507-1509)GCG>GTG		complement component 3 precursor							42.0	44.0	43.0					19																	6710828		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6710828G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1508C>T	19.37:g.6710828G>A	ENSP00000245907:p.Ala503Val						p.A503V	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	13	1570	-			503					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1508C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	1.772	-0.484136	0.04383	.	.	ENSG00000125730	ENST00000245907	T	0.63255	-0.03	5.31	-4.9	0.03094	Alpha-2-macroglobulin, N-terminal 2 (1);	1.102270	0.06775	N	0.784131	T	0.37293	0.0998	N	0.05078	-0.115	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.38090	-0.9677	10	0.10902	T	0.67	.	14.9036	0.70699	0.3725:0.0:0.6275:0.0	.	503	P01024	CO3_HUMAN	V	503	ENSP00000245907:A503V	ENSP00000245907:A503V	A	-	2	0	C3	6661828	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.892000	0.04131	-0.769000	0.04620	-1.728000	0.00702	GCG		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	104	0	0	0	0.001984	0	7	104				
MUC16	94025	broad.mit.edu	37	19	9047069	9047069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:9047069G>A	ENST00000397910.4	-	5	34765	c.34562C>T	c.(34561-34563)gCc>gTc	p.A11521V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11523	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A11521V(2)|p.A7154V(2)		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						ACTGGTGATGGCTACTGGGAG	0.507																																							uc002mkp.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34561-34563)GCC>GTC		mucin 16							118.0	117.0	117.0					19																	9047069		2061	4201	6262	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047069G>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.34562C>T	19.37:g.9047069G>A	ENSP00000381008:p.Ala11521Val						p.A11521V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34766	-			11523			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34562C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.147039	0.21288	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	2.58	-1.14	0.09741	.	.	.	.	.	T	0.01454	0.0047	N	0.02539	-0.55	.	.	.	B	0.27166	0.17	B	0.21708	0.036	T	0.44620	-0.9316	8	0.87932	D	0	.	2.9322	0.05803	0.3064:0.2412:0.4524:0.0	.	11521	B5ME49	.	V	11521	ENSP00000381008:A11521V	ENSP00000381008:A11521V	A	-	2	0	MUC16	8908069	0.002000	0.14202	0.002000	0.10522	0.290000	0.27261	0.242000	0.18087	-0.138000	0.11434	0.586000	0.80456	GCC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	97	0	0	0	0.006122	0	17	97				
DDX49	54555	broad.mit.edu	37	19	19032540	19032540	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19032540T>C	ENST00000247003.4	+	3	375	c.308T>C	c.(307-309)aTc>aCc	p.I103T	COPE_ENST00000600932.1_5'Flank|COPE_ENST00000349893.4_5'Flank|COPE_ENST00000262812.4_5'Flank|DDX49_ENST00000438170.2_5'UTR|COPE_ENST00000351079.4_5'Flank|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	103	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.I103T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AAAGACTGCATCATCGTCGGT	0.652																																							uc002nkq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(307-309)ATC>ACC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 49							112.0	99.0	103.0					19																	19032540		2203	4300	6503	SO:0001583	missense	54555						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr19:19032540T>C		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.308T>C	19.37:g.19032540T>C	ENSP00000247003:p.Ile103Thr					COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_5'UTR|DDX49_uc002nkt.1_5'Flank	p.I103T	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Epithelial(12;0.0289)		3	365	+			103			Helicase ATP-binding.		E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	c.308T>C	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186490	0.57909	.	.	ENSG00000105671	ENST00000247003	T	0.15372	2.43	5.44	5.44	0.79542	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.048039	0.85682	D	0.000000	T	0.08582	0.0213	N	0.02334	-0.595	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.18967	-1.0320	10	0.54805	T	0.06	-28.9712	14.3012	0.66355	0.0:0.0:0.0:1.0	.	103	Q9Y6V7	DDX49_HUMAN	T	103	ENSP00000247003:I103T	ENSP00000247003:I103T	I	+	2	0	DDX49	18893540	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.871000	0.69628	2.070000	0.61991	0.459000	0.35465	ATC		0.652	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070		39	117	0	0	0	0.01441	0	39	117				
TM6SF2	53345	broad.mit.edu	37	19	19379455	19379455	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19379455C>T	ENST00000389363.4	-	6	665	c.593G>A	c.(592-594)cGc>cAc	p.R198H	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral component of membrane (GO:0016021)		p.R198H(2)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCGGTGCAGCGGGTTAGCGC	0.572																																							uc002nmd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(592-594)CGC>CAC		transmembrane 6 superfamily member 2							59.0	64.0	62.0					19																	19379455		1978	4162	6140	SO:0001583	missense	53345					integral to membrane		g.chr19:19379455C>T	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.593G>A	19.37:g.19379455C>T	ENSP00000374014:p.Arg198His					HAPLN4_uc002nmc.2_Intron	p.R198H	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		6	643	-			198					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.593G>A	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	C	7.564	0.665278	0.14710	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.29397	1.57	4.88	1.42	0.22433	.	0.955595	0.08598	U	0.921948	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.27229	0.172	B	0.16289	0.015	T	0.24693	-1.0153	10	0.35671	T	0.21	-0.7129	6.3588	0.21417	0.0:0.6633:0.1572:0.1795	.	198	Q9BZW4	TM6S2_HUMAN	H	198	ENSP00000374014:R198H	ENSP00000269990:R198H	R	-	2	0	TM6SF2	19240455	0.243000	0.23878	0.027000	0.17364	0.165000	0.22458	0.862000	0.27899	0.102000	0.17638	0.557000	0.71058	CGC		0.572	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		15	105	0	0	0	0.00499	0	15	105				
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:30936168G>A	ENST00000355537.3	+	2	1846	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	567					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.V567M(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGAGTACGTGTTAGTGGG	0.532																																							uc002nsu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1699-1701)GTG>ATG		zinc finger protein 536							83.0	88.0	86.0					19																	30936168		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936168G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1699G>A	19.37:g.30936168G>A	ENSP00000347730:p.Val567Met					ZNF536_uc010edd.1_Missense_Mutation_p.V567M	p.V567M	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1837	+	Esophageal squamous(110;0.0834)		567					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1699G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747030	0.30955	.	.	ENSG00000198597	ENST00000355537	T	0.44881	0.91	5.53	3.36	0.38483	.	0.401943	0.28301	N	0.015848	T	0.28797	0.0714	L	0.34521	1.04	0.32125	N	0.587452	B;B	0.24882	0.113;0.113	B;B	0.13407	0.009;0.009	T	0.29336	-1.0015	10	0.66056	D	0.02	-22.2382	7.3541	0.26709	0.1459:0.1393:0.7148:0.0	.	567;567	A7E228;O15090	.;ZN536_HUMAN	M	567	ENSP00000347730:V567M	ENSP00000347730:V567M	V	+	1	0	ZNF536	35628008	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.202000	0.42743	0.659000	0.30945	0.655000	0.94253	GTG		0.532	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		19	186	0	0	0	0.012319	0	19	186				
NUCB1	4924	broad.mit.edu	37	19	49409050	49409050	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:49409050A>C	ENST00000405315.4	+	4	618	c.284A>C	c.(283-285)cAc>cCc	p.H95P	NUCB1_ENST00000263273.5_Missense_Mutation_p.H95P|NUCB1_ENST00000407032.1_Missense_Mutation_p.H95P|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	95						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.H95P(2)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTCAGCCACCACGTCCGCACC	0.622																																							uc002plb.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(283-285)CAC>CCC		nucleobindin 1 precursor							55.0	52.0	53.0					19																	49409050		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49409050A>C	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.284A>C	19.37:g.49409050A>C	ENSP00000385923:p.His95Pro					NUCB1_uc002pla.2_Missense_Mutation_p.H95P|NUCB1_uc002plc.2_Missense_Mutation_p.H95P	p.H95P	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	4	356	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	95					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.284A>C	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.508328|4.508328	0.85282|0.85282	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273|ENST00000424608	T;T;T|.	0.19806|.	2.12;2.12;2.12|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.050183|.	0.85682|.	D|.	0.000000|.	T|T	0.76800|0.76800	0.4038|0.4038	M|M	0.85197|0.85197	2.74|2.74	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.53462|.	0.96;0.96|.	P;P|.	0.49502|.	0.613;0.613|.	T|T	0.79598|0.79598	-0.1737|-0.1737	10|5	0.66056|.	D|.	0.02|.	.|.	12.3588|12.3588	0.55190|0.55190	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	95;95|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	P|P	95|95	ENSP00000385923:H95P;ENSP00000385211:H95P;ENSP00000263273:H95P|.	ENSP00000263273:H95P|.	H|T	+|+	2|1	0|0	NUCB1|NUCB1	54100862|54100862	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.962000|0.962000	0.63368|0.63368	8.744000|8.744000	0.91596|0.91596	1.882000|1.882000	0.54519|0.54519	0.391000|0.391000	0.25812|0.25812	CAC|ACG		0.622	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		7	116	0	0	0	0.00308	0	7	116				
LAIR2	3904	broad.mit.edu	37	19	55019211	55019211	+	Missense_Mutation	SNP	G	G	A	rs528394144		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:55019211G>A	ENST00000301202.2	+	3	298	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LAIR2_ENST00000351841.2_Missense_Mutation_p.R59H	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	59	Ig-like C2-type.					extracellular region (GO:0005576)		p.R59H(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAAACATTCCGCCTGGAGAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17378	0.0		0.001	False		,,,				2504	0.0						uc002qgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(175-177)CGC>CAC		leukocyte-associated immunoglobulin-like							96.0	96.0	96.0					19																	55019211		2203	4300	6503	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55019211G>A	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.176G>A	19.37:g.55019211G>A	ENSP00000301202:p.Arg59His					LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Missense_Mutation_p.R59H|LAIR2_uc010erl.2_Missense_Mutation_p.R59H	p.R59H	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	298	+	Ovarian(34;0.19)		59			Ig-like C2-type.		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.176G>A	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930995	0.34096	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.22134	1.97;2.66;2.66	3.51	-0.045	0.13853	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.521055	0.16330	N	0.219179	T	0.28863	0.0716	L	0.46670	1.46	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.21827	-1.0234	10	0.15066	T	0.55	.	5.6795	0.17767	0.4027:0.0:0.5973:0.0	.	53;59;59	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	H	53;41;59;59	ENSP00000390729:R53H;ENSP00000301202:R59H;ENSP00000301203:R59H	ENSP00000301202:R59H	R	+	2	0	LAIR2	59711023	0.043000	0.20138	0.006000	0.13384	0.078000	0.17371	0.705000	0.25675	-0.019000	0.14055	-0.379000	0.06801	CGC		0.537	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			46	153	0	0	0	0.013114	0	46	153				
ZNF471	57573	broad.mit.edu	37	19	57036148	57036148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:57036148G>T	ENST00000308031.5	+	5	845	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.R97S	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGCATGTGAGGAATGTGGAAA	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(712-714)GAA>TAA		zinc finger protein 471							65.0	70.0	68.0					19																	57036148		2203	4300	6503	SO:0001587	stop_gained	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036148G>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.712G>T	19.37:g.57036148G>T	ENSP00000309161:p.Glu238*						p.E238*	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	845	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	238			C2H2-type 2.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Nonsense_Mutation	SNP	ENST00000308031.5	37	c.712G>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805688	0.90623	.	.	ENSG00000196263	ENST00000308031	.	.	.	4.29	0.783	0.18572	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.9664	0.14093	0.2767:0.1577:0.5656:0.0	.	.	.	.	X	238	.	ENSP00000309161:E238X	E	+	1	0	ZNF471	61727960	0.002000	0.14202	0.226000	0.23910	0.956000	0.61745	1.160000	0.31761	0.457000	0.26962	0.462000	0.41574	GAA		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		4	137	1	0	0.00909568	0.009096	0.00964361	4	137				
WDSUB1	151525	broad.mit.edu	37	2	160104993	160104993	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:160104993C>G	ENST00000409990.3	-	10	1419	c.1163G>C	c.(1162-1164)aGg>aCg	p.R388T	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R388T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R388T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R296T	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	388	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)	p.R388T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAATTTTCCTCAGCACTTT	0.378																																							uc002uaj.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1162-1164)AGG>ACG		WD repeat, sterile alpha motif and U-box domain							98.0	99.0	99.0					2																	160104993		2203	4300	6503	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160104993C>G	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1163G>C	2.37:g.160104993C>G	ENSP00000387078:p.Arg388Thr					WDSUB1_uc002uak.3_Missense_Mutation_p.R388T|WDSUB1_uc002ual.3_Missense_Mutation_p.R388T|WDSUB1_uc002uam.3_Intron|WDSUB1_uc010foo.2_Missense_Mutation_p.R296T	p.R388T	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN			10	1312	-			388			SAM.		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.1163G>C	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204356	0.79127	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.97	5.97	0.96955	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.042128	0.85682	D	0.000000	D	0.90205	0.6938	M	0.64080	1.96	0.80722	D	1	D;D	0.63880	0.977;0.993	P;D	0.65140	0.787;0.932	D	0.90392	0.4396	10	0.72032	D	0.01	.	14.0212	0.64555	0.0:0.9226:0.0:0.0774	.	296;388	Q8N9V3-2;Q8N9V3	.;WSDU1_HUMAN	T	388;296;388;388	ENSP00000352820:R388T;ENSP00000350866:R296T;ENSP00000376545:R388T;ENSP00000387078:R388T	ENSP00000350866:R296T	R	-	2	0	WDSUB1	159813239	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.606000	0.61126	2.834000	0.97654	0.650000	0.86243	AGG		0.378	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		26	119	0	0	0	0.00632	0	26	119				
DYTN	391475	broad.mit.edu	37	2	207558023	207558023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:207558023G>A	ENST00000452335.2	-	9	972	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	286						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L286F(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGAAGAGAAGTTTTGTATTC	0.483																																							uc002vbr.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(856-858)CTT>TTT		dystrotelin							86.0	82.0	84.0					2																	207558023		1919	4141	6060	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207558023G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.856C>T	2.37:g.207558023G>A	ENSP00000396593:p.Leu286Phe						p.L286F	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	9	973	-			286						Missense_Mutation	SNP	ENST00000452335.2	37	c.856C>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	7.090	0.571892	0.13623	.	.	ENSG00000232125	ENST00000452335	T	0.14766	2.48	5.29	3.5	0.40072	.	.	.	.	.	T	0.10981	0.0268	L	0.29908	0.895	0.09310	N	0.999999	B	0.25390	0.125	B	0.22753	0.041	T	0.22871	-1.0204	9	0.45353	T	0.12	-3.1261	10.0897	0.42439	0.1544:0.0:0.8456:0.0	.	286	A2CJ06	DYTN_HUMAN	F	286	ENSP00000396593:L286F	ENSP00000396593:L286F	L	-	1	0	DYTN	207266268	0.991000	0.36638	0.038000	0.18304	0.124000	0.20399	1.241000	0.32743	0.816000	0.34421	0.550000	0.68814	CTT		0.483	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			28	85	0	0	0	0.012213	0	28	85				
TTI1	9675	broad.mit.edu	37	20	36640637	36640637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:36640637C>T	ENST00000373448.2	-	3	1820	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	TTI1_ENST00000449821.1_Missense_Mutation_p.E528K|TTI1_ENST00000373447.3_Missense_Mutation_p.E528K|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	528					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.E528K(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAACCAGTTCATTAAGGATC	0.408																																							uc002xhl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1582-1584)GAA>AAA		hypothetical protein LOC9675							57.0	62.0	60.0					20																	36640637		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640637C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1582G>A	20.37:g.36640637C>T	ENSP00000362547:p.Glu528Lys					KIAA0406_uc002xhm.2_Missense_Mutation_p.E528K	p.E528K	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	1791	-		Myeloproliferative disorder(115;0.00874)	528					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1582G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908664	0.72868	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67171	-0.25;-0.25;-0.25	4.97	4.97	0.65823	Armadillo-type fold (1);	0.048891	0.85682	D	0.000000	T	0.77280	0.4107	M	0.73598	2.24	0.54753	D	0.99998	D	0.65815	0.995	P	0.59546	0.859	T	0.77191	-0.2678	10	0.41790	T	0.15	-29.6379	13.1622	0.59550	0.0:0.8398:0.1602:0.0	.	528	O43156	TTI1_HUMAN	K	528	ENSP00000362547:E528K;ENSP00000362546:E528K;ENSP00000407270:E528K	ENSP00000362546:E528K	E	-	1	0	TTI1	36074051	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.495000	0.66912	2.579000	0.87056	0.655000	0.94253	GAA		0.408	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		22	95	0	0	0	0.01892	0	22	95				
CHRNA4	1137	broad.mit.edu	37	20	61981765	61981765	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:61981765C>T	ENST00000370263.4	-	5	1219	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	333					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.R333H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCGTGGCGAGCGGTGGTGCAC	0.612																																							uc002yes.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(997-999)CGC>CAC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						187.0	130.0	149.0					20																	61981765		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981765C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.998G>A	20.37:g.61981765C>T	ENSP00000359285:p.Arg333His					CHRNA4_uc002yet.1_Missense_Mutation_p.R157H|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R262H|CHRNA4_uc002yev.1_Missense_Mutation_p.R157H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R157H	p.R333H	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1176	-	all_cancers(38;1.71e-10)		333			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.998G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832084	0.91036	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.88741	-2.42	5.15	5.15	0.70609	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93723	0.7994	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.94330	0.7561	10	0.87932	D	0	.	18.6226	0.91326	0.0:1.0:0.0:0.0	.	262;333	Q4VAQ5;P43681	.;ACHA4_HUMAN	H	239;333;262	ENSP00000359285:R333H	ENSP00000359280:R239H	R	-	2	0	CHRNA4	61452209	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	7.577000	0.82486	2.390000	0.81377	0.655000	0.94253	CGC		0.612	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			4	153	0	0	0	0.001168	0	4	153				
KRTAP10-7	386675	broad.mit.edu	37	21	46020608	46020608	+	Silent	SNP	C	C	G	rs374137541	byFrequency	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:46020608C>G	ENST00000380102.2	+	1	112	c.87C>G	c.(85-87)tcC>tcG	p.S29S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	29						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						ACTCTTGCTCCGACTCCTGGC	0.677																																							uc002zfn.3		NA																	0					0						c.(85-87)TCC>TCG		keratin associated protein 10-7							55.0	55.0	55.0					21																	46020608		2003	4149	6152	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46020608C>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.87C>G	21.37:g.46020608C>G						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S29S	NM_198689	NP_941962	P60409	KR107_HUMAN			1	112	+			29					Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.87C>G																																																																																					0.677	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		3	57	0	0	0	0.004672	0	3	57				
PATZ1	23598	broad.mit.edu	37	22	31741165	31741165	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:31741165A>T	ENST00000266269.5	-	1	1053	c.424T>A	c.(424-426)Ttc>Atc	p.F142I	PATZ1_ENST00000215919.3_Missense_Mutation_p.F142I|PATZ1_ENST00000351933.4_Missense_Mutation_p.F142I|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.F142I	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	142					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F142I(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATCAGCAGGAACTTGGCGGCC	0.542																																							uc003akq.2		NA																EWSR1/PATZ1(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(2)	2						c.(424-426)TTC>ATC		POZ (BTB) and AT hook containing zinc finger 1							143.0	150.0	147.0					22																	31741165		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31741165A>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.424T>A	22.37:g.31741165A>T	ENSP00000266269:p.Phe142Ile					PATZ1_uc003akp.2_Missense_Mutation_p.F142I|PATZ1_uc003akr.2_Missense_Mutation_p.F142I|PATZ1_uc003aks.2_Missense_Mutation_p.F142I|uc003akt.2_5'Flank	p.F142I	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			1	1085	-			142					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.424T>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678409	0.88542	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.26	4.26	0.50523	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.055149	0.64402	D	0.000001	T	0.36690	0.0976	L	0.50993	1.605	0.80722	D	1	P;P;D;P	0.69078	0.573;0.793;0.997;0.573	B;B;D;B	0.80764	0.115;0.186;0.994;0.115	T	0.05370	-1.0889	10	0.22706	T	0.39	-15.5445	12.8742	0.57982	1.0:0.0:0.0:0.0	.	142;142;142;142	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	I	142	ENSP00000266269:F142I;ENSP00000384173:F142I;ENSP00000337520:F142I;ENSP00000215919:F142I	ENSP00000215919:F142I	F	-	1	0	PATZ1	30071165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.522000	0.67092	1.698000	0.51180	0.459000	0.35465	TTC		0.542	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		9	408	0	0	0	0.010729	0	9	408				
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		4	Substitution - Nonsense(4)		lung(4)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3964-3966)CGA>TGA		SET domain containing 2							104.0	98.0	100.0					3																	47162162		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162162G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3964C>T	3.37:g.47162162G>A	ENSP00000386759:p.Arg1322*					SETD2_uc003cqv.2_Nonsense_Mutation_p.R1311*	p.R1322*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4017	-		Acute lymphoblastic leukemia(5;0.0169)	1322					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.3964C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	39	7.350623	0.98228	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.32	4.38	0.52667	.	0.000000	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6621	0.68879	0.0:0.0:0.779:0.221	.	.	.	.	X	1322;1322;1322;1278	.	ENSP00000386759:R1322X	R	-	1	2	SETD2	47137166	0.881000	0.30235	0.996000	0.52242	0.962000	0.63368	1.783000	0.38664	2.770000	0.95276	0.563000	0.77884	CGA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		33	102	0	0	0	0.013726	0	33	102				
SEMA3G	56920	broad.mit.edu	37	3	52473930	52473930	+	Missense_Mutation	SNP	C	C	T	rs199949304		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:52473930C>T	ENST00000231721.2	-	11	1327	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	443	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R443H(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGCCTCCACGCGGTCCACCAC	0.647																																							uc003dea.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1327-1329)CGC>CAC		semaphorin sem2 precursor		C	HIS/ARG	0,4406		0,0,2203	71.0	71.0	71.0		1328	4.2	0.9	3		71	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SEMA3G	NM_020163.1	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	443/783	52473930	4,13002	2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52473930C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1328G>A	3.37:g.52473930C>T	ENSP00000231721:p.Arg443His						p.R443H	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	11	1328	-			443			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1328G>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635524	0.67130	0.0	4.65E-4	ENSG00000010319	ENST00000231721	T	0.13307	2.6	5.13	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.064275	0.64402	D	0.000007	T	0.37972	0.1023	M	0.78223	2.4	0.48632	D	0.999689	D	0.89917	1.0	D	0.79784	0.993	T	0.27088	-1.0084	10	0.48119	T	0.1	.	14.9699	0.71226	0.1439:0.8561:0.0:0.0	.	443	Q9NS98	SEM3G_HUMAN	H	443	ENSP00000231721:R443H	ENSP00000231721:R443H	R	-	2	0	SEMA3G	52448970	1.000000	0.71417	0.860000	0.33809	0.367000	0.29736	5.913000	0.69957	1.360000	0.45960	0.561000	0.74099	CGC		0.647	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		50	93	0	0	0	0.01441	0	50	93				
SERPINI2	5276	broad.mit.edu	37	3	167167112	167167112	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:167167112G>A	ENST00000476257.1	-	8	1341	c.1043C>T	c.(1042-1044)aCa>aTa	p.T348I	SERPINI2_ENST00000264677.4_Missense_Mutation_p.T348I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.T348I|SERPINI2_ENST00000471111.1_Missense_Mutation_p.T348I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	348					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T348I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCAGTTGATGTTGCAGCTTC	0.383																																							uc003fer.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|urinary_tract(1)	3						c.(1042-1044)ACA>ATA		serpin peptidase inhibitor, clade I (pancpin),							130.0	110.0	117.0					3																	167167112		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167167112G>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1043C>T	3.37:g.167167112G>A	ENSP00000420621:p.Thr348Ile					SERPINI2_uc003fes.1_Missense_Mutation_p.T358I|SERPINI2_uc003fet.1_Missense_Mutation_p.T348I	p.T348I	NM_006217	NP_006208	O75830	SPI2_HUMAN			6	1101	-			348						Missense_Mutation	SNP	ENST00000476257.1	37	c.1043C>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751099	0.31046	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.63	5.63	0.86233	Serpin domain (3);	0.644790	0.15984	N	0.235169	D	0.84224	0.5425	L	0.52573	1.65	0.28327	N	0.921975	B;B	0.31413	0.049;0.322	B;B	0.34138	0.058;0.176	T	0.80777	-0.1231	10	0.87932	D	0	.	17.1668	0.86818	0.0:0.0:1.0:0.0	.	348;348	B4DDY9;O75830	.;SPI2_HUMAN	I	348	ENSP00000420621:T348I;ENSP00000417692:T348I;ENSP00000264677:T348I;ENSP00000419407:T348I	ENSP00000264677:T348I	T	-	2	0	SERPINI2	168649806	1.000000	0.71417	0.539000	0.28077	0.111000	0.19643	4.097000	0.57741	2.668000	0.90789	0.563000	0.77884	ACA		0.383	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		14	69	0	0	0	0.003163	0	14	69				
FAM131A	131408	broad.mit.edu	37	3	184062729	184062729	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:184062729G>C	ENST00000310585.4	+	3	2343	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.E358Q|FAM131A_ENST00000340957.5_Missense_Mutation_p.E273Q|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Missense_Mutation_p.E273Q|FAM131A_ENST00000450976.1_Missense_Mutation_p.E273Q			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	327						extracellular region (GO:0005576)		p.E358Q(1)|p.E327Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCCTTAGATGAGGATGAGGC	0.632																																							uc003fog.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(979-981)GAG>CAG		hypothetical protein LOC131408 precursor							25.0	19.0	21.0					3																	184062729		2202	4299	6501	SO:0001583	missense	131408					extracellular region		g.chr3:184062729G>C	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.979G>C	3.37:g.184062729G>C	ENSP00000310135:p.Glu327Gln					FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Missense_Mutation_p.E273Q|FAM131A_uc003foe.2_Missense_Mutation_p.E273Q	p.E327Q	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	2343	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		327					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.979G>C		.	.	.	.	.	.	.	.	.	.	g	22.6	4.313717	0.81358	.	.	ENSG00000175182	ENST00000450976;ENST00000340957;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.36	4.36	0.52297	.	0.332260	0.29660	N	0.011526	T	0.50429	0.1615	L	0.55481	1.735	0.49299	D	0.999779	D;D	0.76494	0.999;0.996	D;P	0.69479	0.964;0.801	T	0.55617	-0.8113	10	0.87932	D	0	-23.9516	16.513	0.84292	0.0:0.0:1.0:0.0	.	327;358	Q6UXB0;G5E9B1	F131A_HUMAN;.	Q	273;273;358;273;327	ENSP00000388551:E273Q;ENSP00000340974:E273Q;ENSP00000373360:E358Q;ENSP00000390588:E273Q;ENSP00000310135:E327Q	ENSP00000310135:E327Q	E	+	1	0	FAM131A	185545423	1.000000	0.71417	0.981000	0.43875	0.861000	0.49209	9.032000	0.93736	1.977000	0.57605	0.591000	0.81541	GAG		0.632	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		2	16	0	0	0	0.004672	0	2	16				
ADCY2	108	broad.mit.edu	37	5	7709400	7709400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:7709400G>A	ENST00000338316.4	+	10	1567	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R313H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	493					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R493H(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCTCGGTCCGCATGACCCGG	0.587																																							uc003jdz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1477-1479)CGC>CAC		adenylate cyclase 2							76.0	63.0	68.0					5																	7709400		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709400G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1478G>A	5.37:g.7709400G>A	ENSP00000342952:p.Arg493His					ADCY2_uc011cmo.1_Missense_Mutation_p.R313H	p.R493H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			10	1545	+			493			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1478G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	g	35	5.424486	0.96111	.	.	ENSG00000078295	ENST00000338316;ENST00000537121	T;D	0.82344	-1.13;-1.6	5.62	5.62	0.85841	.	0.052729	0.64402	D	0.000001	D	0.90150	0.6922	M	0.78456	2.415	0.58432	D	0.999992	D;D	0.65815	0.995;0.961	P;B	0.58266	0.836;0.431	D	0.90249	0.4292	10	0.54805	T	0.06	.	19.6604	0.95864	0.0:0.0:1.0:0.0	.	313;493	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	493;313	ENSP00000342952:R493H;ENSP00000444803:R313H	ENSP00000342952:R493H	R	+	2	0	ADCY2	7762400	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.554000	0.98121	2.644000	0.89710	0.558000	0.71614	CGC		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	104	0	0	0	0.014758	0	5	104				
SHROOM1	134549	broad.mit.edu	37	5	132158801	132158801	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:132158801A>C	ENST00000378679.3	-	10	3050	c.2246T>G	c.(2245-2247)cTc>cGc	p.L749R	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Missense_Mutation_p.L680R|SHROOM1_ENST00000319854.3_Missense_Mutation_p.L744R	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	749	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.L744R(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGAGCCGGAGTCGCTGCAG	0.726																																							uc003kxx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2245-2247)CTC>CGC		shroom family member 1							5.0	6.0	6.0					5																	132158801		1925	3906	5831	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158801A>C	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2246T>G	5.37:g.132158801A>C	ENSP00000367950:p.Leu749Arg					SHROOM1_uc003kxy.1_Missense_Mutation_p.L744R	p.L749R	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3051	-			749			ASD2.		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.2246T>G	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033607	0.19590	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27256	1.68;1.68;1.68	4.91	4.91	0.64330	Apx/shroom, ASD2 (2);	0.202921	0.42420	D	0.000704	T	0.25082	0.0609	N	0.21373	0.66	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.956;0.982	T	0.35226	-0.9797	10	0.05351	T	0.99	-13.903	4.9547	0.14033	0.7366:0.0:0.0886:0.1748	.	744;749	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	R	749;744;680	ENSP00000367950:L749R;ENSP00000324245:L744R;ENSP00000367947:L680R	ENSP00000324245:L744R	L	-	2	0	SHROOM1	132186700	0.997000	0.39634	0.035000	0.18076	0.004000	0.04260	4.070000	0.57548	2.145000	0.66743	0.528000	0.53228	CTC		0.726	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		4	6	0	0	0	0.001984	0	4	6				
KIF20A	10112	broad.mit.edu	37	5	137520631	137520631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:137520631T>C	ENST00000394894.3	+	14	2045	c.1819T>C	c.(1819-1821)Tgc>Cgc	p.C607R	KIF20A_ENST00000508792.1_Missense_Mutation_p.C589R	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.C607R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAACAGTGGTGCAGGTACTA	0.502																																							uc003lcj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1819-1821)TGC>CGC		kinesin family member 20A							121.0	116.0	118.0					5																	137520631		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520631T>C	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1819T>C	5.37:g.137520631T>C	ENSP00000378356:p.Cys607Arg					KIF20A_uc011cyo.1_Missense_Mutation_p.C589R	p.C607R	NM_005733	NP_005724	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	2315	+			607					B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1819T>C	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861867	0.17178	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.69806	-0.41;-0.43	5.41	5.41	0.78517	.	0.000000	0.46145	D	0.000308	T	0.53642	0.1809	L	0.40543	1.245	0.58432	D	0.999994	B;P	0.34462	0.001;0.454	B;B	0.32090	0.006;0.14	T	0.52177	-0.8610	10	0.25751	T	0.34	-11.2897	10.0077	0.41968	0.0:0.0748:0.0:0.9252	.	589;607	B4DL79;O95235	.;KI20A_HUMAN	R	607;589	ENSP00000378356:C607R;ENSP00000420880:C589R	ENSP00000378356:C607R	C	+	1	0	KIF20A	137548530	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.935000	0.48963	2.276000	0.75962	0.455000	0.32223	TGC		0.502	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	267	0	0	0	0.021022	0	33	267				
HSPA9	3313	broad.mit.edu	37	5	137906812	137906812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:137906812C>T	ENST00000297185.3	-	4	372	c.247G>A	c.(247-249)Ggt>Agt	p.G83S		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	83					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.G83S(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTCTGGCACCTTCGGCATTC	0.483																																							uc003ldf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(247-249)GGT>AGT		heat shock 70kDa protein 9 precursor							70.0	61.0	64.0					5																	137906812		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137906812C>T	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.247G>A	5.37:g.137906812C>T	ENSP00000297185:p.Gly83Ser					HSPA9_uc011cyw.1_Missense_Mutation_p.G14S	p.G83S	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	355	-			83					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.247G>A	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520419	0.96416	.	.	ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886	T;T;T	0.01258	5.09;5.09;5.09	5.34	5.34	0.76211	.	0.096943	0.64402	D	0.000001	T	0.21550	0.0519	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52147	-0.8614	10	0.87932	D	0	-16.7898	18.9986	0.92824	0.0:1.0:0.0:0.0	.	14;83	B7Z1V7;P38646	.;GRP75_HUMAN	S	83;69;14;14	ENSP00000297185:G83S;ENSP00000425598:G14S;ENSP00000423098:G14S	ENSP00000297185:G83S	G	-	1	0	HSPA9	137934711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.689000	0.84165	2.657000	0.90304	0.655000	0.94253	GGT		0.483	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		9	89	0	0	0	0.004482	0	9	89				
SH3RF2	153769	broad.mit.edu	37	5	145393551	145393551	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:145393551T>C	ENST00000511217.1	+	4	1038	c.986T>C	c.(985-987)aTc>aCc	p.I329T	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I329T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.I329T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCTCATCAGCTCCAGC	0.562																																							uc003lnt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(985-987)ATC>ACC		SH3 domain containing ring finger 2							116.0	114.0	114.0					5																	145393551		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393551T>C	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.986T>C	5.37:g.145393551T>C	ENSP00000424497:p.Ile329Thr					SH3RF2_uc011dbl.1_Missense_Mutation_p.I329T	p.I329T	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1224	+			329					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.986T>C	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348505	0.82132	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.08546	3.08;3.08	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.27053	0.805	0.50313	D	0.999861	D	0.76494	0.999	D	0.80764	0.994	T	0.02098	-1.1214	10	0.48119	T	0.1	-32.2409	15.822	0.78662	0.0:0.0:0.0:1.0	.	329	Q8TEC5	SH3R2_HUMAN	T	329	ENSP00000352028:I329T;ENSP00000424497:I329T	ENSP00000352028:I329T	I	+	2	0	SH3RF2	145373744	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.689000	0.74562	2.198000	0.70561	0.477000	0.44152	ATC		0.562	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		11	376	0	0	0	0.010729	0	11	376				
PDGFRB	5159	broad.mit.edu	37	5	149503898	149503898	+	Missense_Mutation	SNP	T	T	A	rs200931982	byFrequency	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:149503898T>A	ENST00000261799.4	-	14	2407	c.1938A>T	c.(1936-1938)caA>caT	p.Q646H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.Q646H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACATAAGGGCTTGCTTCTCAC	0.617			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1936-1938)CAA>CAT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						88.0	69.0	76.0					5																	149503898		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503898T>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1938A>T	5.37:g.149503898T>A	ENSP00000261799:p.Gln646His					PDGFRB_uc010jhd.2_Missense_Mutation_p.Q485H	p.Q646H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2407	-		all_hematologic(541;0.224)	646			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1938A>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229855	0.79688	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83335	-1.71	5.18	0.223	0.15292	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000189	D	0.84447	0.5474	L	0.41492	1.28	0.47778	D	0.999518	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.82568	-0.0392	10	0.87932	D	0	.	9.1714	0.37083	0.0:0.3869:0.0:0.6131	.	646;646	A8KAM8;P09619	.;PGFRB_HUMAN	H	646;316	ENSP00000261799:Q646H	ENSP00000261799:Q646H	Q	-	3	2	PDGFRB	149484091	0.992000	0.36948	1.000000	0.80357	0.983000	0.72400	0.354000	0.20146	0.287000	0.22375	0.379000	0.24179	CAA		0.617	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		5	89	0	0	0	0.001168	0	5	89				
PDGFRB	5159	broad.mit.edu	37	5	149503902	149503902	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:149503902T>G	ENST00000261799.4	-	14	2403	c.1934A>C	c.(1933-1935)aAg>aCg	p.K645T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.K645T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGGCTTGCTTCTCACTGCT	0.617			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1933-1935)AAG>ACG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	66.0	72.0					5																	149503902		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503902T>G	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1934A>C	5.37:g.149503902T>G	ENSP00000261799:p.Lys645Thr					PDGFRB_uc010jhd.2_Missense_Mutation_p.K484T	p.K645T	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2403	-		all_hematologic(541;0.224)	645			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1934A>C	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198548	0.58126	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83163	-1.69	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	T	0.79581	0.4470	L	0.37466	1.105	0.44937	D	0.997959	B;P	0.46327	0.3;0.876	B;P	0.45037	0.41;0.467	T	0.80551	-0.1332	10	0.45353	T	0.12	.	15.0252	0.71663	0.0:0.0:0.0:1.0	.	645;645	A8KAM8;P09619	.;PGFRB_HUMAN	T	645;315	ENSP00000261799:K645T	ENSP00000261799:K645T	K	-	2	0	PDGFRB	149484095	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.538000	0.67193	1.942000	0.56320	0.379000	0.24179	AAG		0.617	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		5	82	0	0	0	0.001168	0	5	82				
NSD1	64324	broad.mit.edu	37	5	176562833	176562833	+	Silent	SNP	A	A	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:176562833A>G	ENST00000439151.2	+	2	774	c.729A>G	c.(727-729)gaA>gaG	p.E243E	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Silent_p.E243E|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	243					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E243E(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGAAATGAAGTGGACGGCA	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(1)	3						c.(727-729)GAA>GAG		nuclear receptor binding SET domain protein 1							84.0	81.0	82.0					5																	176562833		2203	4300	6503	SO:0001819	synonymous_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562833A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.729A>G	5.37:g.176562833A>G		HNSCC(47;0.14)				NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Silent_p.E243E|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Silent_p.E243E|NSD1_uc003mfq.2_Silent_p.E243E	p.E243E	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	867	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	243					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.729A>G	CCDS4412.1																																																																																				0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		3	120	0	0	0	0.009096	0	3	120				
HIST1H2BK	85236	broad.mit.edu	37	6	27114410	27114410	+	Silent	SNP	G	G	C	rs200807929		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:27114410G>C	ENST00000356950.1	-	1	167	c.168C>G	c.(166-168)tcC>tcG	p.S56S	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.S56S|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S56S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGGCCTTAGAGGAGATGCCGG	0.577																																							uc003nix.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(166-168)TCC>TCG		histone cluster 1, H2bk							110.0	101.0	104.0					6																	27114410		2203	4297	6500	SO:0001819	synonymous_variant	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114410G>C	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.168C>G	6.37:g.27114410G>C						HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.S56S	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	210	-			56					A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	c.168C>G	CCDS4621.1																																																																																				0.577	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		9	507	0	0	0	0.010729	0	9	507				
ICK	22858	broad.mit.edu	37	6	52870089	52870089	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:52870089A>T	ENST00000350082.5	-	14	2103	c.1757T>A	c.(1756-1758)cTg>cAg	p.L586Q	ICK_ENST00000356971.3_Missense_Mutation_p.L586Q	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	586					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L586Q(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CATGGCCTTCAGGGAGGAATA	0.502																																							uc003pbh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(1756-1758)CTG>CAG		intestinal cell kinase							60.0	64.0	62.0					6																	52870089		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52870089A>T	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1757T>A	6.37:g.52870089A>T	ENSP00000263043:p.Leu586Gln					ICK_uc003pbi.2_Missense_Mutation_p.L586Q	p.L586Q	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			15	2247	-	Lung NSC(77;0.103)		586					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.1757T>A	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903813	0.72754	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72942	-0.7;-0.7	6.11	6.11	0.99139	.	0.000000	0.52532	D	0.000073	T	0.67487	0.2898	L	0.57536	1.79	0.42217	D	0.991832	D	0.54047	0.964	P	0.52957	0.714	T	0.66093	-0.6009	10	0.25106	T	0.35	-11.0051	14.932	0.70923	1.0:0.0:0.0:0.0	.	586	Q9UPZ9	ICK_HUMAN	Q	586	ENSP00000263043:L586Q;ENSP00000349458:L586Q	ENSP00000263043:L586Q	L	-	2	0	ICK	52978048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.130000	0.50508	2.343000	0.79666	0.533000	0.62120	CTG		0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		22	84	0	0	0	0.012319	0	22	84				
POM121C	100101267	broad.mit.edu	37	7	75050948	75050948	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:75050948C>T	ENST00000257665.5	-	11	3312	c.3313G>A	c.(3313-3315)Gga>Aga	p.G1105R	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.G863R			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1105	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.G863R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGAAAGCTCCGGTGGTGGCG	0.652																																							uc003udk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2587-2589)GGA>AGA		POM121 membrane glycoprotein (rat)-like							9.0	13.0	12.0					7																	75050948		2130	4212	6342	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75050948C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3313G>A	7.37:g.75050948C>T	ENSP00000257665:p.Gly1105Arg						p.G863R	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			13	3472	-			1105			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2587G>A		.	.	.	.	.	.	.	.	.	.	C	9.939	1.217044	0.22373	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.22134	3.44;1.97	3.28	2.36	0.29203	.	0.211868	0.23784	N	0.044589	T	0.37156	0.0993	M	0.62266	1.93	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02424	-1.1161	10	0.51188	T	0.08	.	7.4637	0.27310	0.0:0.8725:0.0:0.1275	.	1105	A8CG34	P121C_HUMAN	R	1105;863	ENSP00000257665:G1105R;ENSP00000414208:G863R	ENSP00000257665:G1105R	G	-	1	0	POM121C	74888884	0.002000	0.14202	0.026000	0.17262	0.003000	0.03518	1.566000	0.36396	1.532000	0.49169	0.195000	0.17529	GGA		0.652	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		7	46	0	0	0	0.020292	0	7	46				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																							uc003uhx.2		NA																	9	Substitution - Missense(6)|Unknown(3)		kidney(6)|prostate(3)	ovary(7)	7						c.(1486-1488)TCA>CCA		piccolo isoform 1		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_uc003uhv.2_Missense_Mutation_p.S496P	p.S496P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1775	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	227	0	0	0	0.004482	0	7	227				
SAMD9	54809	broad.mit.edu	37	7	92734750	92734750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:92734750G>A	ENST00000379958.2	-	3	930	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R221*(2)|p.R221R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAGCAAATCGGAAAACCTCA	0.398																																							uc003umf.2		NA																	3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(661-663)CGA>TGA		sterile alpha motif domain containing 9							140.0	133.0	135.0					7																	92734750		2203	4300	6503	SO:0001587	stop_gained	54809					cytoplasm		g.chr7:92734750G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.661C>T	7.37:g.92734750G>A	ENSP00000369292:p.Arg221*					SAMD9_uc003umg.2_Nonsense_Mutation_p.R221*	p.R221*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	917	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		221					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	c.661C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828850	0.90955	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	1.29	0.21616	.	0.103153	0.33610	N	0.004723	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2917	0.31960	0.0:0.1391:0.3034:0.5574	.	.	.	.	X	221	.	ENSP00000369292:R221X	R	-	1	2	SAMD9	92572686	0.000000	0.05858	0.112000	0.21494	0.984000	0.73092	-0.617000	0.05584	0.136000	0.18733	0.603000	0.83216	CGA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		23	260	0	0	0	0.01892	0	23	260				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1798-1800)GTG>GAG		B-Raf	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	115	0	0	0	0.015359	0	33	115				
USP17L2	377630	broad.mit.edu	37	8	11995391	11995391	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:11995391C>G	ENST00000333796.3	-	1	1195	c.879G>C	c.(877-879)aaG>aaC	p.K293N	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	293	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K293N(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ATTGCACATTCTTGGCAAGTT	0.507																																							uc003wvc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(877-879)AAG>AAC		deubiquitinating enzyme 3							21.0	25.0	24.0					8																	11995391		1332	2959	4291	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995391C>G	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.879G>C	8.37:g.11995391C>G	ENSP00000333329:p.Lys293Asn					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.K293N	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	879	-			293						Missense_Mutation	SNP	ENST00000333796.3	37	c.879G>C	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740032	0.30865	.	.	ENSG00000223443	ENST00000333796	T	0.30182	1.54	0.745	-0.524	0.11920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.140723	0.44483	D	0.000446	T	0.33469	0.0864	M	0.71296	2.17	0.29294	N	0.869182	B	0.28760	0.221	B	0.39771	0.309	T	0.39099	-0.9630	10	0.87932	D	0	.	5.1998	0.15258	0.0:0.7466:0.0:0.2534	.	293	Q6R6M4	U17L2_HUMAN	N	293	ENSP00000333329:K293N	ENSP00000333329:K293N	K	-	3	2	USP17L2	12032800	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	4.859000	0.62954	-0.140000	0.11394	-0.385000	0.06624	AAG		0.507	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		4	186	0	0	0	0.014758	0	4	186				
FAM86B2	653333	broad.mit.edu	37	8	12285220	12285220	+	Missense_Mutation	SNP	C	C	T	rs201696967		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:12285220C>T	ENST00000262365.4	-	7	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	FAM86B2_ENST00000393715.3_Missense_Mutation_p.V52M|FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000351291.4_Missense_Mutation_p.V246M	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	280										endometrium(1)|kidney(2)	3						GTAAAGGCCACGTAGACCTCA	0.652																																							uc003wvt.3		NA																	0					0						c.(838-840)GTG>ATG		hypothetical protein LOC653333																																				SO:0001583	missense	653333							g.chr8:12285220C>T		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.838G>A	8.37:g.12285220C>T	ENSP00000262365:p.Val280Met					FAM66D_uc011kxp.1_Intron|uc003wvm.1_Intron|uc011kxs.1_5'Flank|uc003wvp.1_5'Flank|FAM86B2_uc003wvq.3_RNA|FAM86B2_uc003wvr.3_Missense_Mutation_p.V103M|FAM86B2_uc003wvs.3_Missense_Mutation_p.V180M|FAM86B2_uc010lsn.2_RNA|FAM86B2_uc003wvu.3_Missense_Mutation_p.V89M|FAM86B2_uc010lso.2_RNA|FAM86B2_uc011kxt.1_Missense_Mutation_p.V52M|FAM86B2_uc011kxu.1_RNA|FAM86B2_uc010lsl.2_RNA	p.V280M	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN			7	838	-			280						Missense_Mutation	SNP	ENST00000262365.4	37	c.838G>A	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	13.49	2.254260	0.39896	.	.	ENSG00000145002	ENST00000393715;ENST00000262365;ENST00000351291;ENST00000527331	T;T;T;T	0.34859	1.34;3.19;3.19;3.19	1.82	-0.54	0.11861	.	.	.	.	.	T	0.33585	0.0868	L	0.56769	1.78	0.80722	D	1	P	0.37985	0.613	B	0.41571	0.36	T	0.13072	-1.0523	9	0.66056	D	0.02	.	6.1989	0.20565	0.0:0.683:0.0:0.317	.	280	P0C5J1	F86B2_HUMAN	M	52;280;246;246	ENSP00000377318:V52M;ENSP00000262365:V280M;ENSP00000283479:V246M;ENSP00000432491:V246M	ENSP00000262365:V280M	V	-	1	0	FAM86B2	12329591	0.004000	0.15560	0.224000	0.23877	0.048000	0.14542	-0.800000	0.04555	-0.344000	0.08338	-1.608000	0.00805	GTG		0.652	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		3	56	0	0	0	0.014758	0	3	56				
TNFSF15	9966	broad.mit.edu	37	9	117568153	117568153	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:117568153A>C	ENST00000374045.4	-	1	253	c.140T>G	c.(139-141)cTt>cGt	p.L47R		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	47					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L47R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GAGTCCTGCAAGGAAGGGGAG	0.632																																							uc004bjh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(139-141)CTT>CGT		tumor necrosis factor (ligand) superfamily,							61.0	54.0	57.0					9																	117568153		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117568153A>C	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.140T>G	9.37:g.117568153A>C	ENSP00000363157:p.Leu47Arg						p.L47R	NM_005118	NP_005109	O95150	TNF15_HUMAN			1	256	-			47			Helical; Signal-anchor for type II membrane protein; (Potential).		Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.140T>G	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167136	0.38217	.	.	ENSG00000181634	ENST00000374045	T	0.32753	1.44	5.21	5.21	0.72293	.	0.833203	0.10365	N	0.683528	T	0.40595	0.1123	L	0.34521	1.04	0.41065	D	0.985402	D	0.54601	0.967	P	0.57425	0.82	T	0.08207	-1.0733	10	0.56958	D	0.05	-24.6228	11.768	0.51941	1.0:0.0:0.0:0.0	.	47	O95150	TNF15_HUMAN	R	47	ENSP00000363157:L47R	ENSP00000363157:L47R	L	-	2	0	TNFSF15	116607974	0.860000	0.29831	0.285000	0.24819	0.096000	0.18686	4.594000	0.61041	2.084000	0.62774	0.459000	0.35465	CTT		0.632	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		35	127	0	0	0	0.019004	0	35	127				
NUP188	23511	broad.mit.edu	37	9	131741553	131741553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:131741553A>G	ENST00000372577.2	+	13	1237	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	406					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T406A(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TATAATTGATACAGCATGTGA	0.383																																							uc004bws.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(1216-1218)ACA>GCA		nucleoporin 188kDa							125.0	108.0	114.0					9																	131741553		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131741553A>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1216A>G	9.37:g.131741553A>G	ENSP00000361658:p.Thr406Ala						p.T406A	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			13	1238	+			406					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1216A>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	A	8.984	0.976097	0.18736	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.63744	-0.06	5.11	5.11	0.69529	.	0.099558	0.64402	D	0.000001	T	0.35566	0.0936	N	0.04508	-0.205	0.33386	D	0.575446	B	0.02656	0.0	B	0.06405	0.002	T	0.43310	-0.9399	10	0.19590	T	0.45	-28.5656	8.9178	0.35592	0.9066:0.0:0.0934:0.0	.	406	Q5SRE5	NU188_HUMAN	A	295;406	ENSP00000361658:T406A	ENSP00000349125:T295A	T	+	1	0	NUP188	130781374	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.853000	0.62911	2.045000	0.60652	0.460000	0.39030	ACA		0.383	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			11	235	0	0	0	0.013537	0	11	235				
ARSH	347527	broad.mit.edu	37	X	2933387	2933387	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:2933387G>A	ENST00000381130.2	+	4	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	239					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.E239E(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAAGAGGAGAAAGTAGCTT	0.388																																							uc011mhj.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(715-717)GAG>GAA		arylsulfatase family, member H							85.0	68.0	74.0					X																	2933387		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933387G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.717G>A	X.37:g.2933387G>A							p.E239E	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			4	717	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	239						Silent	SNP	ENST00000381130.2	37	c.717G>A	CCDS35198.1																																																																																				0.388	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		19	33	0	0	0	0.004656	0	19	33				
PDE4DIP	9659	broad.mit.edu	37	1	144863324	144863324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:144863324delG	ENST00000369354.3	-	37	6268	c.6079delC	c.(6079-6081)ctgfs	p.L2027fs	PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.L2163fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2027					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATACCTTTCAGCCCCTTCTTG	0.488			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6079-6081)CTGfs		phosphodiesterase 4D interacting protein isoform							160.0	157.0	158.0					1																	144863324		2203	4300	6503	SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863324delG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6079delC	1.37:g.144863324delG	ENSP00000358360:p.Leu2027fs					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Frame_Shift_Del_p.L1921fs|PDE4DIP_uc001elv.3_Frame_Shift_Del_p.L1034fs|PDE4DIP_uc001ema.2_3'UTR	p.L2027fs	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6370	-			2027			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	c.6079delC	CCDS30824.1																																																																																				0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	505	NA	NA	NA	NA	NA	7	505	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																							uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(7897-7902)CACAAAfs		antigen identified by monoclonal antibody Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902204_129902205delTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs					MKI67_uc001lkf.2_Frame_Shift_Del_p.H2273fs|MKI67_uc009yav.1_Frame_Shift_Del_p.H2208fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.H1783fs	p.H2633fs	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8094_8095	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633_2634			14.|16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.7899_7900delCA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	221	NA	NA	NA	NA	NA	10	221	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																							uc001nnl.2		NA																	3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)		kidney(2)|ovary(1)	ovary(2)	2						c.(805-807)TCAfs		hypothetical protein LOC374393 isoform a																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892377delA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs					FAM111B_uc001nnm.2_Frame_Shift_Del_p.S239fs|FAM111B_uc010rko.1_Frame_Shift_Del_p.S239fs	p.S269fs	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1050	+			269					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.807delA	CCDS7972.1																																																																																				0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		7	79	NA	NA	NA	NA	NA	7	79	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																							uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(28-30)AGGfs		caspase 5 isoform a precursor			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.R10fs	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	60	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	10					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.28delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		11	131	NA	NA	NA	NA	NA	11	131	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506229	11506231	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	TGC	TGC	-	-	TGC	TGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:11506229_11506231delTGC	ENST00000500254.2	-	4	444_446	c.407_409delGCA	c.(406-411)agcaag>aag	p.S136del	PRB1_ENST00000545626.1_In_Frame_Del_p.S116del|PRB1_ENST00000546254.1_In_Frame_Del_p.S136del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTGGGACTTGCTGCCTCCTTG	0.596																																							uc001qzw.1		NA																	0					0						c.(805-810)AGCAAG>AAG		proline-rich protein BstNI subfamily 1 isoform 1																																				SO:0001651	inframe_deletion	5542					extracellular region		g.chr12:11506229_11506231delTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.407_409delGCA	12.37:g.11506232_11506234delTGC	ENSP00000420826:p.Ser136del					PRB1_uc001qzu.1_In_Frame_Del_p.S136del|PRB1_uc001qzv.1_In_Frame_Del_p.S116del	p.S269del	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	843_845	-			330	S -> C (in Ref. 4; AAA36503).		15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|14.		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	In_Frame_Del	DEL	ENST00000500254.2	37	c.806_808delGCA	CCDS8642.1																																																																																				0.596	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		20	797	NA	NA	NA	NA	NA	20	797	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20522722	20522723	+	Frame_Shift_Ins	INS	-	-	G	rs149604740	byFrequency	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:20522722_20522723insG	ENST00000359062.3	+	1	544_545	c.504_505insG	c.(505-507)gggfs	p.G169fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	169					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCGCCTGCTGCGGGGGGGAAGC	0.693																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(502-507)TGCGGGfs		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)			19,3941		0,19,1961						4.3	1.0			16	13,7811		0,13,3899	no	frameshift	PDE3A	NM_000921.4		0,32,5860	A1A1,A1R,RR		0.1662,0.4798,0.2716				32,11752				SO:0001589	frameshift_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522722_20522723insG		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.511dupG	12.37:g.20522729_20522729dupG	ENSP00000351957:p.Gly169fs						p.C168fs	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	526_527	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	168_169			Helical; (Potential).		O60865|Q13348|Q17RD1	Frame_Shift_Ins	INS	ENST00000359062.3	37	c.504_505insG	CCDS31754.1																																																																																				0.693	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			12	29	NA	NA	NA	NA	NA	12	29	---	---	---	---
