#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NCS1	23413	broad.mit.edu	37	9	132988727	132988727	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:132988727C>T	ENST00000372398.3	+	7	620	c.534C>T	c.(532-534)tcC>tcT	p.S178S	NCS1_ENST00000458469.1_Silent_p.S160S	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	178	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with IL1RAPL1.			S -> P (in Ref. 4; AAF01804). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						CAGACCCGTCCATTGTGCAGG	0.652																																					Melanoma(30;182 1162 22581 33240)	ENST00000372398.3																			0				large_intestine(1)|lung(4)|stomach(1)	6						c.(532-534)tcC>tcT		neuronal calcium sensor 1							50.0	43.0	45.0					9																	132988727		2203	4300	6503	SO:0001819	synonymous_variant	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132988727C>T	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.534C>T	9.37:g.132988727C>T						NCS1_ENST00000458469.1_Silent_p.S160S	p.S178S	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN			7	620	+			178	S -> P (in Ref. 4; AAF01804).		EF-hand 4.|Interaction with IL1RAPL1.		E9PAY3|P36610|Q9UK26	Silent	SNP	ENST00000372398.3	37	c.534C>T	CCDS6932.1																																																																																				0.652	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		5	34	0	0	0	1	0	5	34				
PCED1B	91523	broad.mit.edu	37	12	47629897	47629897	+	Missense_Mutation	SNP	G	G	T	rs535665336		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:47629897G>T	ENST00000546455.1	+	4	1782	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	PCED1B_ENST00000432328.1_Missense_Mutation_p.D351Y|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	351	Pro-rich.						hydrolase activity (GO:0016787)										TTTCCAGTCGGATCAATTCTA	0.527																																						ENST00000546455.1																			0											c.(1051-1053)Gat>Tat		PC-esterase domain containing 1B							176.0	172.0	174.0					12																	47629897		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629897G>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1051G>T	12.37:g.47629897G>T	ENSP00000446688:p.Asp351Tyr					PCED1B_ENST00000432328.1_Missense_Mutation_p.D351Y	p.D351Y							4	1782	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1051G>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924330	0.18056	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.34275	1.37;1.37	4.28	3.34	0.38264	.	0.000000	0.40385	U	0.001107	T	0.34308	0.0893	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	P	0.61397	0.888	T	0.19745	-1.0296	10	0.05721	T	0.95	-7.6309	6.957	0.24576	0.1324:0.0:0.8676:0.0	.	351	Q96HM7	F113B_HUMAN	Y	351	ENSP00000446688:D351Y;ENSP00000396040:D351Y	ENSP00000396040:D351Y	D	+	1	0	FAM113B	45916164	0.007000	0.16637	0.010000	0.14722	0.128000	0.20619	1.418000	0.34782	1.308000	0.44962	0.655000	0.94253	GAT		0.527	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		106	35	1	0	1.70349e-48	1	1.96713e-48	106	35				
MAMDC2	256691	broad.mit.edu	37	9	72758597	72758597	+	Missense_Mutation	SNP	A	A	T	rs151044274		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:72758597A>T	ENST00000377182.4	+	9	1883	c.1266A>T	c.(1264-1266)ttA>ttT	p.L422F	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	422	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATGGATTTTTAAAAATGAGTG	0.458													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20445	0.0		0.0	False		,,,				2504	0.0					ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1264-1266)ttA>ttT		MAM domain containing 2		A	PHE/LEU	4,4402	6.2+/-15.9	0,4,2199	118.0	114.0	115.0		1266	-2.6	1.0	9	dbSNP_134	115	0,8600		0,0,4300	yes	missense	MAMDC2	NM_153267.4	22	0,4,6499	TT,TA,AA		0.0,0.0908,0.0308	benign	422/687	72758597	4,13002	2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72758597A>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1266A>T	9.37:g.72758597A>T	ENSP00000366387:p.Leu422Phe					MAMDC2-AS1_ENST00000591368.1_RNA	p.L422F	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			9	1883	+			422			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1266A>T	CCDS6631.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	8.998	0.979380	0.18812	9.08E-4	0.0	ENSG00000165072	ENST00000377182	T	0.02015	4.5	5.91	-2.63	0.06133	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.709911	0.14778	N	0.298959	T	0.00608	0.0020	N	0.01048	-1.04	0.32476	N	0.54215	B	0.02656	0.0	B	0.06405	0.002	T	0.43261	-0.9402	10	0.10111	T	0.7	-7.8305	1.4893	0.02453	0.1771:0.2069:0.3728:0.2433	.	422	Q7Z304	MAMC2_HUMAN	F	422	ENSP00000366387:L422F	ENSP00000366387:L422F	L	+	3	2	MAMDC2	71948417	0.976000	0.34144	0.991000	0.47740	0.997000	0.91878	0.055000	0.14229	-0.270000	0.09285	0.528000	0.53228	TTA		0.458	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		116	93	0	0	0	1	0	116	93				
MYH9	4627	broad.mit.edu	37	22	36690235	36690235	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr22:36690235C>G	ENST00000216181.5	-	28	3970	c.3740G>C	c.(3739-3741)cGc>cCc	p.R1247P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1247					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACTTTCTTGCGCTTGTGCTC	0.622			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(3739-3741)cGc>cCc		myosin, heavy chain 9, non-muscle							108.0	103.0	105.0					22																	36690235		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36690235C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3740G>C	22.37:g.36690235C>G	ENSP00000216181:p.Arg1247Pro						p.R1247P	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			28	3970	-			1247					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3740G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133839	0.94517	.	.	ENSG00000100345	ENST00000216181	D	0.83075	-1.68	4.98	4.98	0.66077	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92191	0.5759	10	0.42905	T	0.14	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	1247	P35579	MYH9_HUMAN	P	1247	ENSP00000216181:R1247P	ENSP00000216181:R1247P	R	-	2	0	MYH9	35020181	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.879000	0.63100	2.454000	0.82982	0.561000	0.74099	CGC		0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		46	91	0	0	0	1	0	46	91				
ARID2	196528	broad.mit.edu	37	12	46231438	46231438	+	Silent	SNP	G	G	A	rs146341546		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:46231438G>A	ENST00000334344.6	+	10	1450	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.T277T|ARID2_ENST00000444670.1_Silent_p.T55T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	426					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGCTCACGGAAATGGGAG	0.378			"""N, S, F"""		hepatocellular carcinoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18009	0.0		0.0	False		,,,				2504	0.0					ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1276-1278)acG>acA		AT rich interactive domain 2 (ARID, RFX-like)		G		2,4404	6.2+/-15.9	0,2,2201	111.0	103.0	106.0		1278	-0.3	1.0	12	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	ARID2	NM_152641.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		426/1836	46231438	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231438G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1278G>A	12.37:g.46231438G>A						ARID2_ENST00000422737.1_Silent_p.T277T|ARID2_ENST00000444670.1_Silent_p.T55T|ARID2_ENST00000479608.1_3'UTR	p.T426T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1450	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	426					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.1278G>A	CCDS31783.1																																																																																				0.378	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		20	71	0	0	0	1	0	20	71				
SIRPG	55423	broad.mit.edu	37	20	1629785	1629785	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr20:1629785C>T	ENST00000303415.3	-	2	407	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	SIRPG_ENST00000344103.4_Missense_Mutation_p.G115S|SIRPG_ENST00000381583.2_Missense_Mutation_p.G115S|SIRPG_ENST00000381580.1_Missense_Mutation_p.G82S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Missense_Mutation_p.G115S	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	115	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TAGTATGTGCCGACATCTGCT	0.493																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(244-246)Ggc>Agc		signal-regulatory protein gamma							284.0	235.0	252.0					20																	1629785		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629785C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.343G>A	20.37:g.1629785C>T	ENSP00000305529:p.Gly115Ser					SIRPG_ENST00000216927.4_Missense_Mutation_p.G115S|SIRPG_ENST00000303415.3_Missense_Mutation_p.G115S|SIRPG_ENST00000344103.4_Missense_Mutation_p.G115S|SIRPG_ENST00000381583.2_Missense_Mutation_p.G115S	p.G82S			Q9P1W8	SIRPG_HUMAN			2	423	-			115			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.244G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.58	1.979674	0.34942	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.03889	3.77;3.77;3.77;3.77;3.77	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.25827	0.0629	H	0.95679	3.705	0.24024	N	0.996136	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.04216	-1.0968	10	0.87932	D	0	.	7.3585	0.26733	0.0:1.0:0.0:0.0	.	115;115;115	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	S	82;115;115;115;115	ENSP00000370992:G82S;ENSP00000342759:G115S;ENSP00000305529:G115S;ENSP00000370995:G115S;ENSP00000216927:G115S	ENSP00000216927:G115S	G	-	1	0	SIRPG	1577785	0.227000	0.23707	0.218000	0.23776	0.316000	0.28119	1.932000	0.40143	1.392000	0.46585	0.195000	0.17529	GGC		0.493	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		43	92	0	0	0	1	0	43	92				
EEF2K	29904	broad.mit.edu	37	16	22268675	22268675	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:22268675G>A	ENST00000263026.5	+	8	1344	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	290	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCACACGGAGACGGGCACTG	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(868-870)gaG>gaA		eukaryotic elongation factor-2 kinase							136.0	111.0	120.0					16																	22268675		2197	4300	6497	SO:0001819	synonymous_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268675G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.870G>A	16.37:g.22268675G>A							p.E290E	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1344	+			290			Alpha-type protein kinase.		Q8N588	Silent	SNP	ENST00000263026.5	37	c.870G>A	CCDS10604.1																																																																																				0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		19	45	0	0	0	1	0	19	45				
TP53	7157	broad.mit.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:7577506C>T	ENST00000269305.4	-	7	964	c.775G>A	c.(775-777)Gac>Aac	p.D259N	TP53_ENST00000420246.2_Missense_Mutation_p.D259N|TP53_ENST00000445888.2_Missense_Mutation_p.D259N|TP53_ENST00000359597.4_Missense_Mutation_p.D259N|TP53_ENST00000413465.2_Missense_Mutation_p.D259N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D259N	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)	GACCTGGAGTCTTCCAGTGTG	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Deletion - In frame(1)|Unknown(1)	p.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(1)	ovary(10)|lung(8)|large_intestine(7)|oesophagus(6)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|thyroid(1)|stomach(1)|soft_tissue(1)|cervix(1)|urinary_tract(1)|breast(1)|skin(1)|eye(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(775-777)Gac>Aac	Other conserved DNA damage response genes	tumor protein p53							135.0	95.0	109.0					17																	7577506		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577506C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.775G>A	17.37:g.7577506C>T	ENSP00000269305:p.Asp259Asn	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_ENST00000359597.4_Missense_Mutation_p.D259N|TP53_ENST00000413465.2_Missense_Mutation_p.D259N|TP53_ENST00000269305.4_Missense_Mutation_p.D259N|TP53_ENST00000445888.2_Missense_Mutation_p.D259N|TP53_ENST00000455263.2_Missense_Mutation_p.D259N	p.D259N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	259		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.775G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353383	0.41700	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99055	0.9676	L	0.38175	1.15	0.42095	D	0.991318	B;B;B;B;P	0.43701	0.006;0.013;0.007;0.06;0.815	B;B;B;B;P	0.50082	0.054;0.025;0.042;0.09;0.63	D	0.98939	1.0790	10	0.51188	T	0.08	-22.926	15.1458	0.72650	0.0:1.0:0.0:0.0	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	N	259;259;259;259;259;259;248;127	ENSP00000410739:D259N;ENSP00000352610:D259N;ENSP00000269305:D259N;ENSP00000398846:D259N;ENSP00000391127:D259N;ENSP00000391478:D259N;ENSP00000425104:D127N	ENSP00000269305:D259N	D	-	1	0	TP53	7518231	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	2.570000	0.45981	2.517000	0.84864	0.462000	0.41574	GAC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	33	0	0	0	1	0	20	33				
ERBB2IP	55914	broad.mit.edu	37	5	65350201	65350201	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:65350201C>G	ENST00000284037.5	+	21	3444	c.3055C>G	c.(3055-3057)Caa>Gaa	p.Q1019E	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q1015E|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q1019E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1019					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CACAGAAAATCAAAGTTATGC	0.408																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3055-3057)Caa>Gaa		erbb2 interacting protein							83.0	82.0	82.0					5																	65350201		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65350201C>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3055C>G	5.37:g.65350201C>G	ENSP00000284037:p.Gln1019Glu					ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q1015E|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000416865.2_Intron	p.Q1019E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3444	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1019					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3055C>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	1.500	-0.552254	0.03996	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.37235	1.41;1.4;1.4;1.6;1.21;1.47;1.4;1.43;1.21	5.76	5.76	0.90799	.	0.163302	0.43747	D	0.000540	T	0.21186	0.0510	N	0.08118	0	0.24648	N	0.993531	B;B;B;B;B;B;B	0.11235	0.004;0.004;0.002;0.002;0.002;0.003;0.002	B;B;B;B;B;B;B	0.15052	0.012;0.005;0.005;0.005;0.004;0.009;0.012	T	0.12091	-1.0561	10	0.30854	T	0.27	.	14.1634	0.65461	0.0:0.9284:0.0:0.0716	.	1019;1019;1019;1015;1019;1019;1019	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	E	1019;1019;1019;1019;1019;1019;1015;1019;1019	ENSP00000284037:Q1019E;ENSP00000370330:Q1019E;ENSP00000370326:Q1019E;ENSP00000370323:Q1019E;ENSP00000370322:Q1019E;ENSP00000370325:Q1019E;ENSP00000422766:Q1015E;ENSP00000426632:Q1019E;ENSP00000422015:Q1019E	ENSP00000284037:Q1019E	Q	+	1	0	ERBB2IP	65385957	0.935000	0.31712	0.994000	0.49952	0.968000	0.65278	2.057000	0.41365	2.726000	0.93360	0.655000	0.94253	CAA		0.408	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		33	55	0	0	0	1	0	33	55				
DDX41	51428	broad.mit.edu	37	5	176940689	176940689	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:176940689G>A	ENST00000507955.1	-	10	1618	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	365	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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;0.191)			GCGGCACCTTGAAGTAGGAGA	0.657																																						ENST00000507955.1																			0											c.(1093-1095)ttC>ttT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							89.0	75.0	80.0					5																	176940689		2203	4300	6503	SO:0001819	synonymous_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940689G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1095C>T	5.37:g.176940689G>A							p.F365F	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		10	1618	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	365			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	ENST00000507955.1	37	c.1095C>T	CCDS4427.1																																																																																				0.657	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		37	75	0	0	0	1	0	37	75				
LTB4R2	56413	broad.mit.edu	37	14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	CIDEB_ENST00000258807.5_5'UTR|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000336557.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711																																						ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(841-843)Gca>Aca		leukotriene B4 receptor 2							19.0	23.0	22.0					14																	24780618		2202	4293	6495	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780618G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.841G>A	14.37:g.24780618G>A	ENSP00000432146:p.Ala281Thr					LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|CIDEB_ENST00000555817.1_5'UTR	p.A281T			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2458	+			281					Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.841G>A		.	.	.	.	.	.	.	.	.	.	G	11.72	1.723273	0.30503	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.317641	0.21265	U	0.077403	T	0.72835	0.3510	L	0.43152	1.355	0.24632	N	0.993617	D	0.71674	0.998	P	0.60473	0.875	T	0.62369	-0.6869	10	0.22706	T	0.39	.	10.4248	0.44371	0.0:0.0:0.805:0.195	.	281	Q9NPC1	LT4R2_HUMAN	T	281;250;250;250	ENSP00000432146:A281T;ENSP00000433290:A250T;ENSP00000445772:A250T;ENSP00000434760:A250T	ENSP00000337731:A281T	A	+	1	0	LTB4R2	23850458	0.002000	0.14202	0.217000	0.23759	0.054000	0.15201	0.923000	0.28757	2.162000	0.67917	0.491000	0.48974	GCA		0.711	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			21	26	0	0	0	1	0	21	26				
NAA30	122830	broad.mit.edu	37	14	57857978	57857978	+	Silent	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:57857978C>G	ENST00000556492.1	+	2	457	c.303C>G	c.(301-303)ctC>ctG	p.L101L	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	101					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CCGCCTCCCTCAAGAGCAAGG	0.682																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(301-303)ctC>ctG		N(alpha)-acetyltransferase 30, NatC catalytic subunit							17.0	21.0	20.0					14																	57857978		2104	4137	6241	SO:0001819	synonymous_variant	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57857978C>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.303C>G	14.37:g.57857978C>G						NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	p.L101L	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	457	+			101					Q0IIN2	Silent	SNP	ENST00000556492.1	37	c.303C>G	CCDS32088.1																																																																																				0.682	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		13	25	0	0	0	1	0	13	25				
ATRIP	84126	broad.mit.edu	37	3	48506419	48506419	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:48506419G>A	ENST00000320211.3	+	12	2358	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	TREX1_ENST00000422277.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000412052.1_Missense_Mutation_p.D656N|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.D722N|TREX1_ENST00000433541.1_5'Flank|ATRIP_ENST00000357105.6_Missense_Mutation_p.D622N	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	749					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATCAGTTTGACCAGGTGAT	0.612								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1966-1968)Gac>Aac	Other conserved DNA damage response genes	ATR interacting protein							123.0	116.0	118.0					3																	48506419		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506419G>A	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2245G>A	3.37:g.48506419G>A	ENSP00000323099:p.Asp749Asn					ATRIP_ENST00000320211.3_Missense_Mutation_p.D749N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D622N|ATRIP_ENST00000346691.4_Missense_Mutation_p.D722N	p.D656N	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	2428	+			749					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1966G>A	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920096	0.92249	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.56275	1.02;1.19;0.47;1.03	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75077	-0.3445	10	0.87932	D	0	-18.2972	16.9018	0.86116	0.0:0.0:1.0:0.0	.	722;749	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	N	749;722;622;656	ENSP00000323099:D749N;ENSP00000302338:D722N;ENSP00000349620:D622N;ENSP00000400930:D656N	ENSP00000323099:D749N	D	+	1	0	ATRIP	48481423	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.094000	0.76944	2.582000	0.87167	0.655000	0.94253	GAC		0.612	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		21	46	0	0	0	1	0	21	46				
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:202150039C>T	ENST00000432109.2	+	9	1492	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Splice_Site_p.R452*|CASP8_ENST00000264274.9_Splice_Site_p.R351*|CASP8_ENST00000323492.7_Splice_Site_p.R420*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Splice_Site_p.R494*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			3	Substitution - Nonsense(3)	p.R452*(2)|p.R494*(1)	endometrium(3)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e8+1		caspase 8, apoptosis-related cysteine peptidase							86.0	77.0	80.0					2																	202150039		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202150039C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1304+1C>T	2.37:g.202150039C>T		HNSCC(4;0.00038)				CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice	p.R494_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1676	+			435					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37	c.1481_splice	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402692	0.96030	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	3.47	0.39725	.	0.583046	0.18288	N	0.145809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6272	0.28218	0.5048:0.4125:0.0:0.0826	.	.	.	.	X	420;351;435;452;494;420;214	.	ENSP00000264274:R351X	R	+	1	2	CASP8	201858284	0.102000	0.21896	0.991000	0.47740	0.792000	0.44763	0.396000	0.20867	0.538000	0.28769	0.561000	0.74099	CGA		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Nonsense_Mutation	19	20	0	0	0	1	0	19	20				
DOCK1	1793	broad.mit.edu	37	10	129209189	129209189	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:129209189G>A	ENST00000280333.6	+	43	4474		c.e43+1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGAATTTGCGGTAAAAAACAA	0.468																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.e43+1		dedicator of cytokinesis 1							47.0	46.0	46.0					10																	129209189		1891	4110	6001	SO:0001630	splice_region_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129209189G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4365+1G>A	10.37:g.129209189G>A								NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	43	4474	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)						A9Z1Z5	Splice_Site	SNP	ENST00000280333.6	37			.	.	.	.	.	.	.	.	.	.	G	27.3	4.814541	0.90790	.	.	ENSG00000150760	ENST00000280333	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3037	0.90172	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK1	129099179	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.314000	0.96306	2.546000	0.85860	0.655000	0.94253	.		0.468	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	Intron	4	33	0	0	0	1	0	4	33				
ATRX	546	broad.mit.edu	37	X	76814257	76814257	+	Silent	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:76814257A>G	ENST00000373344.5	-	29	6601	c.6387T>C	c.(6385-6387)gcT>gcC	p.A2129A	ATRX_ENST00000395603.3_Silent_p.A2091A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2129	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTACTCGATTAGCAGCTACCA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6385-6387)gcT>gcC		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						68.0	66.0	67.0					X																	76814257		2203	4295	6498	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814257A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6387T>C	X.37:g.76814257A>G						ATRX_ENST00000395603.3_Silent_p.A2091A|ATRX_ENST00000480283.1_5'UTR	p.A2129A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6601	-			2129			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.6387T>C	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		82	34	0	0	0	1	0	82	34				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	A	rs104894230		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:534288C>A	ENST00000451590.1	-	2	222	c.35G>T	c.(34-36)gGc>gTc	p.G12V	HRAS_ENST00000417302.1_Missense_Mutation_p.G12V|HRAS_ENST00000311189.7_Missense_Mutation_p.G12V|HRAS_ENST00000397596.2_Missense_Mutation_p.G12V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		309	Substitution - Missense(309)	p.G12V(252)|p.G12D(48)|p.G12A(9)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)gGc>gTc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>T	11.37:g.534288C>A	ENSP00000407586:p.Gly12Val	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G12V|HRAS_ENST00000397596.2_Missense_Mutation_p.G12V|HRAS_ENST00000311189.7_Missense_Mutation_p.G12V|HRAS_ENST00000451590.1_Missense_Mutation_p.G12V|HRAS_ENST00000468682.2_5'UTR	p.G12V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	222	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201174	0.58234	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.90019	3.08	0.80722	A	1	P;P	0.41102	0.693;0.738	B;P	0.46543	0.385;0.52	D	0.91478	0.5202	9	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	V	12	ENSP00000380722:G12V;ENSP00000380723:G12V;ENSP00000407586:G12V;ENSP00000388246:G12V;ENSP00000309845:G12V	ENSP00000309845:G12V	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		43	28	1	0	1.41504e-22	1	1.49194e-22	43	28				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100816	89100816	+	RNA	SNP	A	A	G	rs200993950		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:89100816A>G	ENST00000393525.3	+	0	1290									ankyrin repeat domain 36B pseudogene 2																		AGCAAGCAGAAAGAGAAGTAA	0.303																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100816A>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100816A>G														0	1290	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.303	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	45	0	0	0	1	0	3	45				
DUSP22	56940	broad.mit.edu	37	6	348155	348155	+	Missense_Mutation	SNP	G	G	A	rs202152797	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:348155G>A	ENST00000344450.5	+	6	759	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	DUSP22_ENST00000605035.1_Missense_Mutation_p.V3I|DUSP22_ENST00000604971.1_Missense_Mutation_p.V3I|DUSP22_ENST00000603453.1_Missense_Mutation_p.V3I|DUSP22_ENST00000419235.2_Missense_Mutation_p.V106I|DUSP22_ENST00000605315.1_Missense_Mutation_p.V3I|DUSP22_ENST00000605863.1_Missense_Mutation_p.V3I	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	106	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V106I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CATCATGACCGTCACTGACTT	0.602													G|||	7	0.00139776	0.0015	0.0	5008	,	,		36346	0.005		0.0	False		,,,				2504	0.0					ENST00000604971.1																			1	Substitution - Missense(1)	p.V106I(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(7-9)Gtc>Atc		dual specificity phosphatase 22		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	193.0	176.0	182.0		316	3.5	1.0	6		182	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP22	NM_020185.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	106/185	348155	3,13003	2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348155G>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.316G>A	6.37:g.348155G>A	ENSP00000345281:p.Val106Ile					DUSP22_ENST00000605863.1_Missense_Mutation_p.V3I|DUSP22_ENST00000603453.1_Missense_Mutation_p.V3I|DUSP22_ENST00000605035.1_Missense_Mutation_p.V3I|DUSP22_ENST00000344450.5_Missense_Mutation_p.V106I|DUSP22_ENST00000419235.2_Missense_Mutation_p.V106I|DUSP22_ENST00000605315.1_Missense_Mutation_p.V3I	p.V3I			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1120	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	106					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.7G>A	CCDS4468.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	14.28|14.28	2.489598|2.489598	0.44249|0.44249	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000112679|ENSG00000112679	ENST00000419235|ENST00000344450	.|D	.|0.85629	.|-2.01	5.82|5.82	3.54|3.54	0.40534|0.40534	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.259964	.|0.34200	.|N	.|0.004176	T|T	0.66626|0.66626	0.2808|0.2808	L|L	0.43554|0.43554	1.36|1.36	0.43830|0.43830	D|D	0.996405|0.996405	.|B;B;B	.|0.20261	.|0.003;0.043;0.043	.|B;B;B	.|0.16289	.|0.004;0.015;0.015	T|T	0.66329|0.66329	-0.5951|-0.5951	5|10	.|0.37606	.|T	.|0.19	.|.	8.8606|8.8606	0.35256|0.35256	0.2927:0.0:0.7073:0.0|0.2927:0.0:0.7073:0.0	.|.	.|106;63;106	.|Q9NRW4-2;B3KSA8;Q9NRW4	.|.;.;DUS22_HUMAN	H|I	43|106	.|ENSP00000345281:V106I	.|ENSP00000345281:V106I	R|V	+|+	2|1	0|0	DUSP22|DUSP22	293155|293155	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.606000|0.606000	0.37113|0.37113	2.449000|2.449000	0.44935|0.44935	1.317000|1.317000	0.45149|0.45149	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.602	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		58	197	0	0	0	1	0	58	197				
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.R445L(1)	endometrium(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1333-1335)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							246.0	225.0	232.0					17																	10415238		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415238C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1334G>A	17.37:g.10415238C>T	ENSP00000226207:p.Arg445His					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R445H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			14	1428	-			445			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1334G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270913	0.95429	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88741	-2.42	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000487	D	0.95762	0.8621	M	0.90425	3.115	0.58432	D	0.999998	D	0.69078	0.997	D	0.72625	0.978	D	0.95814	0.8844	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	445	P12882	MYH1_HUMAN	H	445	ENSP00000226207:R445H	ENSP00000226207:R445H	R	-	2	0	MYH1	10355963	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.861000	0.98227	0.655000	0.94253	CGC		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		5	288	0	0	0	1	0	5	288				
SLC6A17	388662	broad.mit.edu	37	1	110734821	110734821	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:110734821G>A	ENST00000331565.4	+	7	1577	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	364					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCATGAATGAGAAGTGTGTGG	0.582																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1090-1092)gaG>gaA		solute carrier family 6 (neutral amino acid transporter), member 17							169.0	113.0	132.0					1																	110734821		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110734821G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1092G>A	1.37:g.110734821G>A							p.E364E	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	7	1577	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	364					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.1092G>A	CCDS30799.1																																																																																				0.582	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		17	34	0	0	0	1	0	17	34				
SMARCC2	6601	broad.mit.edu	37	12	56575364	56575364	+	Silent	SNP	T	T	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:56575364T>C	ENST00000267064.4	-	10	944	c.858A>G	c.(856-858)tcA>tcG	p.S286S	SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000550164.1_Silent_p.S286S|SMARCC2_ENST00000394023.3_Silent_p.S286S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.S286S	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	286					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCGTCGATCTGAATCTGGGC	0.488																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(856-858)tcA>tcG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							98.0	98.0	98.0					12																	56575364		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575364T>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.858A>G	12.37:g.56575364T>C						SMARCC2_ENST00000267064.4_Silent_p.S286S|SMARCC2_ENST00000347471.4_Silent_p.S286S|SMARCC2_ENST00000550164.1_Silent_p.S286S|RP11-977G19.5_ENST00000553176.1_RNA	p.S286S	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		10	963	-			286					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.858A>G	CCDS8907.1																																																																																				0.488	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			5	155	0	0	0	1	0	5	155				
ACCSL	390110	broad.mit.edu	37	11	44073268	44073268	+	Splice_Site	SNP	C	C	T	rs200928902		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:44073268C>T	ENST00000378832.1	+	5	827	c.771C>T	c.(769-771)ggC>ggT	p.G257G		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	257					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTGATCCAGGCGGTAAGTCAG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21460	0.0		0.0	False		,,,				2504	0.0					ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.e5+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C		10,4146		0,10,2068	262.0	248.0	253.0		771	-4.9	0.1	11		253	0,8428		0,0,4214	yes	coding-synonymous-near-splice	ACCSL	NM_001031854.2		0,10,6282	TT,TC,CC		0.0,0.2406,0.0795		257/569	44073268	10,12574	2078	4214	6292	SO:0001630	splice_region_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44073268C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.772+1C>T	11.37:g.44073268C>T							p.G257_splice	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			5	827	+			257						Splice_Site	SNP	ENST00000378832.1	37	c.772_splice	CCDS41636.1																																																																																				0.512	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	Silent	69	250	0	0	0	1	0	69	250				
MMP3	4314	broad.mit.edu	37	11	102713001	102713001	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:102713001T>G	ENST00000299855.5	-	4	765	c.509A>C	c.(508-510)gAc>gCc	p.D170A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	170					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AGGGTAAAAGTCTCCATGTTC	0.413																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(508-510)gAc>gCc		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						99.0	96.0	97.0					11																	102713001		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713001T>G	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.509A>C	11.37:g.102713001T>G	ENSP00000299855:p.Asp170Ala						p.D170A	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	4	765	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	170					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.509A>C	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804317	0.90623	.	.	ENSG00000149968	ENST00000299855	T	0.30448	1.53	5.64	5.64	0.86602	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.237569	0.27622	N	0.018549	T	0.72755	0.3500	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84453	0.0589	10	0.72032	D	0.01	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	170	P08254	MMP3_HUMAN	A	170	ENSP00000299855:D170A	ENSP00000299855:D170A	D	-	2	0	MMP3	102218211	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.666000	0.61554	2.367000	0.80283	0.528000	0.53228	GAC		0.413	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		15	50	0	0	0	1	0	15	50				
GPR112	139378	broad.mit.edu	37	X	135405026	135405026	+	Nonsense_Mutation	SNP	C	C	T	rs148277760		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:135405026C>T	ENST00000394143.1	+	5	451	c.160C>T	c.(160-162)Cga>Tga	p.R54*	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.R54*|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	54					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R54*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAACTCAGCCGATTCACAGC	0.403																																						ENST00000394143.1																			1	Substitution - Nonsense(1)	p.R54*(1)	large_intestine(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(160-162)Cga>Tga		G protein-coupled receptor 112							95.0	92.0	93.0					X																	135405026		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405026C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.160C>T	X.37:g.135405026C>T	ENSP00000377699:p.Arg54*					GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.R54*|GPR112_ENST00000394141.1_Intron	p.R54*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	451	+	Acute lymphoblastic leukemia(192;0.000127)		54					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.160C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750813	0.96890	.	.	ENSG00000156920	ENST00000394143;ENST00000370652	.	.	.	5.85	0.687	0.18020	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2904	0.15723	0.4002:0.4459:0.0:0.1539	.	.	.	.	X	54	.	ENSP00000359686:R54X	R	+	1	2	GPR112	135232692	0.865000	0.29922	0.814000	0.32528	0.991000	0.79684	0.350000	0.20079	-0.050000	0.13356	0.513000	0.50165	CGA		0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			47	15	0	0	0	1	0	47	15				
TECTA	7007	broad.mit.edu	37	11	121028675	121028675	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:121028675C>T	ENST00000392793.1	+	14	4702	c.4431C>T	c.(4429-4431)cgC>cgT	p.R1477R	TECTA_ENST00000264037.2_Silent_p.R1477R			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGGGTGCGCGGCTGCTTCA	0.682																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4429-4431)cgC>cgT		tectorin alpha							40.0	37.0	38.0					11																	121028675		2203	4298	6501	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028675C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4431C>T	11.37:g.121028675C>T						TECTA_ENST00000264037.2_Silent_p.R1477R	p.R1477R			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4702	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1477						Silent	SNP	ENST00000392793.1	37	c.4431C>T	CCDS8434.1																																																																																				0.682	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		17	45	0	0	0	1	0	17	45				
IGHG3	3502	broad.mit.edu	37	14	106236252	106236252	+	RNA	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:106236252G>T	ENST00000390551.2	-	0	551							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TCAGGGGTCCGGGAAATCATA	0.577																																						ENST00000390551.2																			0																				84.0	76.0	79.0					14																	106236252		2011	4161	6172			3502							g.chr14:106236252G>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236252G>T														0	551	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.577	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		58	114	1	0	2.84144e-21	1	2.96365e-21	58	114				
IGFN1	91156	broad.mit.edu	37	1	201196084	201196084	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:201196084C>T	ENST00000335211.4	+	23	10991	c.10861C>T	c.(10861-10863)Cgg>Tgg	p.R3621W	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1164						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGGGCCTGCGGTCCCACCT	0.667																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10861-10863)Cgg>Tgg		immunoglobulin-like and fibronectin type III domain containing 1							50.0	58.0	55.0					1																	201196084		2202	4299	6501	SO:0001583	missense	91156							g.chr1:201196084C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10861C>T	1.37:g.201196084C>T	ENSP00000334714:p.Arg3621Trp					IGFN1_ENST00000295591.8_3'UTR	p.R3621W	NM_001164586.1	NP_001158058.1					23	10991	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10861C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.216051|3.216051	0.58452|0.58452	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211	.|T	.|0.69040	.|-0.37	5.21|5.21	1.97|1.97	0.26223|0.26223	.|.	.|0.070056	.|0.56097	.|D	.|0.000025	T|T	0.79587|0.79587	0.4471|0.4471	M|M	0.81682|0.81682	2.555|2.555	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.78214|0.78214	-0.2291|-0.2291	5|10	.|0.40728	.|T	.|0.16	.|.	11.5264|11.5264	0.50582|0.50582	0.6091:0.3909:0.0:0.0|0.6091:0.3909:0.0:0.0	.|.	.|3621	.|F8WAI1	.|.	V|W	1038|3621	.|ENSP00000334714:R3621W	.|ENSP00000334714:R3621W	A|R	+|+	2|1	0|2	IGFN1|IGFN1	199462707|199462707	0.998000|0.998000	0.40836|0.40836	0.852000|0.852000	0.33557|0.33557	0.539000|0.539000	0.34962|0.34962	1.245000|1.245000	0.32790|0.32790	0.525000|0.525000	0.28522|0.28522	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		4	96	0	0	0	1	0	4	96				
ZNHIT2	741	broad.mit.edu	37	11	64884964	64884964	+	Silent	SNP	G	G	A	rs539314451		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:64884964G>A	ENST00000310597.4	-	1	206	c.162C>T	c.(160-162)ctC>ctT	p.L54L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	54							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGCAACCGCGGAGCTCTCCCA	0.672																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(160-162)ctC>ctT		zinc finger, HIT-type containing 2							13.0	12.0	12.0					11																	64884964		2176	4270	6446	SO:0001819	synonymous_variant	741						metal ion binding	g.chr11:64884964G>A		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.162C>T	11.37:g.64884964G>A							p.L54L	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	206	-			54					Q3SY14|Q8IUV0	Silent	SNP	ENST00000310597.4	37	c.162C>T	CCDS8094.1																																																																																				0.672	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		4	6	0	0	0	1	0	4	6				
NEUROD6	63974	broad.mit.edu	37	7	31378801	31378801	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:31378801G>T	ENST00000297142.3	-	2	404	c.82C>A	c.(82-84)Cag>Aag	p.Q28K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	28					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTTGCTTCTGGTCCTCGCAT	0.413																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(82-84)Cag>Aag		neuronal differentiation 6							137.0	150.0	145.0					7																	31378801		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378801G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.82C>A	7.37:g.31378801G>T	ENSP00000297142:p.Gln28Lys						p.Q28K	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	404	-			28					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.82C>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064597	0.20067	.	.	ENSG00000164600	ENST00000297142	D	0.94931	-3.56	5.28	5.28	0.74379	.	0.344195	0.29684	N	0.011476	D	0.84392	0.5462	N	0.03608	-0.345	0.39085	D	0.960981	B	0.02656	0.0	B	0.06405	0.002	T	0.80670	-0.1279	10	0.07175	T	0.84	-7.8613	14.5443	0.68017	0.0:0.146:0.854:0.0	.	28	Q96NK8	NDF6_HUMAN	K	28	ENSP00000297142:Q28K	ENSP00000297142:Q28K	Q	-	1	0	NEUROD6	31345326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.952000	0.63618	2.485000	0.83878	0.650000	0.86243	CAG		0.413	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		52	92	1	0	1.32667e-27	1	1.42986e-27	52	92				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	7	0	0	0	1	0	3	7				
FKBP15	23307	broad.mit.edu	37	9	115941031	115941031	+	Silent	SNP	C	C	A	rs141462079	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:115941031C>A	ENST00000238256.3	-	20	2082	c.1965G>T	c.(1963-1965)ctG>ctT	p.L655L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	655					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTTCAGCTGCAGATGAGAGA	0.478																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(1963-1965)ctG>ctT		FK506 binding protein 15, 133kDa							46.0	44.0	44.0					9																	115941031		1981	4155	6136	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115941031C>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1965G>T	9.37:g.115941031C>A							p.L655L	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			20	2082	-			655					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.1965G>T	CCDS48007.1																																																																																				0.478	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		7	16	1	0	0.27861	1	0.281513	7	16				
OR10G8	219869	broad.mit.edu	37	11	123901133	123901133	+	Silent	SNP	T	T	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:123901133T>C	ENST00000431524.1	+	1	837	c.804T>C	c.(802-804)gaT>gaC	p.D268D		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGCTGTGGATGGAGTTGTGG	0.527																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(802-804)gaT>gaC		olfactory receptor, family 10, subfamily G, member 8							139.0	128.0	132.0					11																	123901133		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901133T>C	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.804T>C	11.37:g.123901133T>C							p.D268D	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	837	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	268					B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.804T>C	CCDS31704.1																																																																																				0.527	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		64	92	0	0	0	1	0	64	92				
AFF2	2334	broad.mit.edu	37	X	147985764	147985764	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:147985764C>A	ENST00000370460.2	+	9	1852	c.1373C>A	c.(1372-1374)gCa>gAa	p.A458E	AFF2_ENST00000370458.1_Missense_Mutation_p.A419E|AFF2_ENST00000370457.5_Missense_Mutation_p.A425E|AFF2_ENST00000286437.5_Missense_Mutation_p.A99E|AFF2_ENST00000342251.3_Missense_Mutation_p.A425E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	458					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGAAAAGGCAAAACCTAGG	0.294																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1372-1374)gCa>gAa		AF4/FMR2 family, member 2							153.0	145.0	147.0					X																	147985764		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147985764C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1373C>A	X.37:g.147985764C>A	ENSP00000359489:p.Ala458Glu					AFF2_ENST00000370458.1_Missense_Mutation_p.A419E|AFF2_ENST00000342251.3_Missense_Mutation_p.A425E|AFF2_ENST00000370457.5_Missense_Mutation_p.A425E|AFF2_ENST00000286437.5_Missense_Mutation_p.A99E	p.A458E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			9	1852	+	Acute lymphoblastic leukemia(192;6.56e-05)		458					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1373C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062098	0.76187	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.76	5.76	0.90799	.	0.381182	0.28736	N	0.014314	T	0.65954	0.2741	L	0.39898	1.24	0.37902	D	0.931078	P;P;P;P;P;P;D	0.56521	0.896;0.873;0.873;0.873;0.873;0.896;0.976	P;P;P;P;P;P;P	0.51701	0.673;0.544;0.544;0.544;0.544;0.673;0.677	T	0.68032	-0.5516	10	0.40728	T	0.16	.	18.9086	0.92474	0.0:1.0:0.0:0.0	.	99;423;425;419;448;458;419	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	E	458;425;425;419;99	ENSP00000359489:A458E;ENSP00000359486:A425E;ENSP00000345459:A425E;ENSP00000359487:A419E;ENSP00000286437:A99E	ENSP00000286437:A99E	A	+	2	0	AFF2	147793455	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.681000	0.68175	2.412000	0.81896	0.600000	0.82982	GCA		0.294	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		66	27	1	0	4.83677e-39	1	5.51961e-39	66	27				
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122.0	132.0	129.0					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		6	300	0	0	0	1	0	6	300				
PCDHAC1	56135	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:140307492G>A	ENST00000253807.2	+	1	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E339K(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522																																						ENST00000253807.2																			1	Substitution - Missense(1)	p.E339K(1)	large_intestine(1)	NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1015-1017)Gaa>Aaa									161.0	151.0	154.0					5																	140307492		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140307492G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1015G>A	5.37:g.140307492G>A	ENSP00000253807:p.Glu339Lys					PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.E339K	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1015	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1015G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616330	0.46736	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.59638	0.25;0.25	5.91	4.07	0.47477	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.64260	0.2582	M	0.64404	1.975	0.29974	N	0.818347	D;D	0.60575	0.986;0.988	P;P	0.48840	0.584;0.592	T	0.66622	-0.5877	9	0.87932	D	0	.	16.3146	0.82913	0.0:0.2579:0.7421:0.0	.	339;339	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	339	ENSP00000386356:E339K;ENSP00000253807:E339K	ENSP00000253807:E339K	E	+	1	0	PCDHAC1	140287676	0.990000	0.36364	0.019000	0.16419	0.048000	0.14542	2.733000	0.47360	0.778000	0.33520	0.462000	0.41574	GAA		0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		59	121	0	0	0	1	0	59	121				
TMTC4	84899	broad.mit.edu	37	13	101257365	101257365	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr13:101257365G>A	ENST00000376234.3	-	18	2298	c.2109C>T	c.(2107-2109)gaC>gaT	p.D703D	TMTC4_ENST00000342624.5_Silent_p.D722D|TMTC4_ENST00000328767.5_Silent_p.D592D	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	703						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTTGGCCAAGTCTAGATGTC	0.458																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2164-2166)gaC>gaT		transmembrane and tetratricopeptide repeat containing 4							243.0	213.0	223.0					13																	101257365		2203	4300	6503	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101257365G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2109C>T	13.37:g.101257365G>A						TMTC4_ENST00000376234.3_Silent_p.D703D|TMTC4_ENST00000328767.5_Silent_p.D592D	p.D722D	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2424	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		703					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.2166C>T	CCDS41904.1																																																																																				0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		52	93	0	0	0	1	0	52	93				
RUNX1T1	862	broad.mit.edu	37	8	92998376	92998376	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:92998376C>T	ENST00000523629.1	-	9	1709	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V382I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V419I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V430I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V392I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	419					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V419I(1)|p.V382I(1)|p.V430I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGGGTTGACGGGACTCTGC	0.453																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.V419I(1)|p.V382I(1)|p.V430I(1)	large_intestine(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1255-1257)Gtc>Atc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							108.0	116.0	113.0					8																	92998376		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998376C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1255G>A	8.37:g.92998376C>T	ENSP00000428543:p.Val419Ile					RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V419I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V382I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V430I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V382I	p.V419I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1709	-			419					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1255G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998890	0.54147	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.30182	1.55;1.55;1.55;1.55;1.55;1.55;1.54;1.55	5.67	4.76	0.60689	.	0.226064	0.45606	N	0.000357	T	0.16428	0.0395	N	0.08118	0	0.50813	D	0.999899	B;B;B	0.31519	0.327;0.318;0.301	B;B;B	0.25987	0.048;0.048;0.065	T	0.06625	-1.0816	10	0.37606	T	0.19	-11.7341	13.7947	0.63164	0.0:0.9239:0.0:0.0761	.	430;419;392	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	I	419;392;419;382;382;382;430;392	ENSP00000428543:V419I;ENSP00000379520:V392I;ENSP00000265814:V419I;ENSP00000353504:V382I;ENSP00000390137:V382I;ENSP00000428742:V382I;ENSP00000402257:V430I;ENSP00000430728:V392I	ENSP00000265814:V419I	V	-	1	0	RUNX1T1	93067552	1.000000	0.71417	0.884000	0.34674	0.976000	0.68499	5.571000	0.67404	1.334000	0.45468	0.655000	0.94253	GTC		0.453	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		59	102	0	0	0	1	0	59	102				
AHNAK2	113146	broad.mit.edu	37	14	105411705	105411705	+	Silent	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:105411705A>G	ENST00000333244.5	-	7	10202	c.10083T>C	c.(10081-10083)ccT>ccC	p.P3361P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3361						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCCACAGAAGGGAGCTGAA	0.672																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10081-10083)ccT>ccC		AHNAK nucleoprotein 2							126.0	136.0	133.0					14																	105411705		1979	4148	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105411705A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10083T>C	14.37:g.105411705A>G						AHNAK2_ENST00000557457.1_Intron	p.P3361P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10202	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3361					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.10083T>C	CCDS45177.1																																																																																				0.672	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		151	192	0	0	0	1	0	151	192				
DAW1	164781	broad.mit.edu	37	2	228769656	228769656	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:228769656C>T	ENST00000309931.2	+	8	743	c.660C>T	c.(658-660)gcC>gcT	p.A220A	DAW1_ENST00000545118.1_Silent_p.A205A|DAW1_ENST00000373666.2_Silent_p.A220A	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	220						cilium (GO:0005929)											GACATTCTGCCGAAATCATCT	0.413																																						ENST00000373666.2																			0											c.(658-660)gcC>gcT		dynein assembly factor with WDR repeat domains 1							140.0	138.0	139.0					2																	228769656		2203	4300	6503	SO:0001819	synonymous_variant	164781							g.chr2:228769656C>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.660C>T	2.37:g.228769656C>T						DAW1_ENST00000545118.1_Silent_p.A205A|DAW1_ENST00000309931.2_Silent_p.A220A	p.A220A							8	1296	+								Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.660C>T	CCDS2470.1																																																																																				0.413	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		48	85	0	0	0	1	0	48	85				
PTCHD4	442213	broad.mit.edu	37	6	47976630	47976630	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:47976630G>C	ENST00000339488.4	-	2	680	c.647C>G	c.(646-648)tCt>tGt	p.S216C	PTCHD4_ENST00000543600.1_Missense_Mutation_p.S199C	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	216						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGATGCTAAAGAGTAGAGCTG	0.532																																						ENST00000543600.1																			0											c.(595-597)tCt>tGt		patched domain containing 4							73.0	71.0	72.0					6																	47976630		1938	4149	6087	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976630G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.647C>G	6.37:g.47976630G>C	ENSP00000341914:p.Ser216Cys					PTCHD4_ENST00000339488.4_Missense_Mutation_p.S216C	p.S199C			Q6ZW05	CF138_HUMAN			2	635	-			216					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.596C>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510706	0.85389	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;D	0.85484	-1.99;-1.99	6.16	6.16	0.99307	.	0.163580	0.56097	D	0.000036	D	0.86785	0.6016	L	0.54323	1.7	0.80722	D	1	P;D	0.61697	0.897;0.99	B;P	0.53722	0.44;0.733	D	0.85234	0.1034	10	0.48119	T	0.1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	216;199	Q6ZW05;B0QZ29	CF138_HUMAN;.	C	216;199	ENSP00000341914:S216C;ENSP00000439864:S199C	ENSP00000341914:S216C	S	-	2	0	C6orf138	48084589	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.652000	0.83633	2.937000	0.99478	0.650000	0.86243	TCT		0.532	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		24	36	0	0	0	1	0	24	36				
ADAMTS19	171019	broad.mit.edu	37	5	128956418	128956418	+	Missense_Mutation	SNP	G	G	A	rs188910013		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:128956418G>A	ENST00000274487.4	+	9	1713	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	523	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R523Q(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCATGGTCTCGATGTAGCAAG	0.388																																						ENST00000274487.4																			1	Substitution - Missense(1)	p.R523Q(1)	skin(1)	NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1567-1569)cGa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							228.0	213.0	218.0					5																	128956418		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128956418G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1568G>A	5.37:g.128956418G>A	ENSP00000274487:p.Arg523Gln					CTC-575N7.1_ENST00000503616.1_RNA	p.R523Q	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	9	1713	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	523			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1568G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772840	0.31411	.	.	ENSG00000145808	ENST00000274487	D	0.86097	-2.07	4.51	-1.96	0.07525	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.981106	0.08335	N	0.961672	T	0.69324	0.3098	N	0.19112	0.55	0.28618	N	0.908341	B	0.27316	0.175	B	0.17722	0.019	T	0.53975	-0.8362	9	.	.	.	.	6.3545	0.21395	0.3422:0.202:0.4558:0.0	.	523	Q8TE59	ATS19_HUMAN	Q	523	ENSP00000274487:R523Q	.	R	+	2	0	ADAMTS19	128984317	0.003000	0.15002	0.214000	0.23707	0.994000	0.84299	0.170000	0.16663	-0.406000	0.07588	-0.137000	0.14449	CGA		0.388	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		36	143	0	0	0	1	0	36	143				
CLCNKA	1187	broad.mit.edu	37	1	16357047	16357047	+	Silent	SNP	C	C	T	rs143389794		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:16357047C>T	ENST00000331433.4	+	15	1519	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	CLCNKA_ENST00000420078.1_Silent_p.P500P|CLCNKA_ENST00000375692.1_Silent_p.P500P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.P457P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	500					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGCACTGCCCGTGCTGATGG	0.627																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1498-1500)ccC>ccT		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)	C	,	0,4406		0,0,2203	47.0	42.0	44.0		1500,1500	-7.8	0.5	1	dbSNP_134	44	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CLCNKA	NM_001042704.1,NM_004070.3	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	500/687,500/688	16357047	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16357047C>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1500C>T	1.37:g.16357047C>T						CLCNKA_ENST00000420078.1_Silent_p.P500P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.P457P|CLCNKA_ENST00000331433.4_Silent_p.P500P	p.P500P			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1628	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	500					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.1500C>T	CCDS167.1																																																																																				0.627	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			28	80	0	0	0	1	0	28	80				
OR8B3	390271	broad.mit.edu	37	11	124266319	124266319	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:124266319C>G	ENST00000354597.3	-	1	945	c.929G>C	c.(928-930)aGa>aCa	p.R310T		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAATATATTTCTTCTCTGAAT	0.328																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(928-930)aGa>aCa		olfactory receptor, family 8, subfamily B, member 3							41.0	44.0	43.0					11																	124266319		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266319C>G	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.929G>C	11.37:g.124266319C>G	ENSP00000346611:p.Arg310Thr						p.R310T	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	945	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	310					Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.929G>C	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	8.381	0.837475	0.16891	.	.	ENSG00000196661	ENST00000354597	T	0.00527	6.79	3.79	-1.46	0.08800	.	0.979703	0.08352	N	0.959114	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.33240	-0.9876	10	0.41790	T	0.15	.	4.2039	0.10480	0.1559:0.4513:0.0:0.3928	.	310	Q8NGG8	OR8B3_HUMAN	T	310	ENSP00000346611:R310T	ENSP00000346611:R310T	R	-	2	0	OR8B3	123771529	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.711000	0.05019	-0.295000	0.08960	-0.262000	0.10625	AGA		0.328	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		40	50	0	0	0	1	0	40	50				
DYRK1A	1859	broad.mit.edu	37	21	38853118	38853118	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr21:38853118C>T	ENST00000398960.2	+	4	581	c.506C>T	c.(505-507)tCc>tTc	p.S169F	DYRK1A_ENST00000451934.1_Missense_Mutation_p.S169F|DYRK1A_ENST00000339659.4_Missense_Mutation_p.S160F|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S169F|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S169F	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCAAAGGTTCCTTTGGACAG	0.338																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(478-480)tCc>tTc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							91.0	93.0	92.0					21																	38853118		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38853118C>T	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.506C>T	21.37:g.38853118C>T	ENSP00000381932:p.Ser169Phe					DYRK1A_ENST00000451934.1_Missense_Mutation_p.S169F|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S169F|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S169F	p.S160F	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			4	1949	+			169			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.479C>T	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105787	0.94292	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.995;0.995;0.996;0.993;0.995	T	0.78534	-0.2167	10	0.87932	D	0	.	19.1981	0.93698	0.0:1.0:0.0:0.0	.	169;169;169;160;169	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	F	169;160;169;169;169;169	ENSP00000342690:S169F;ENSP00000340373:S160F;ENSP00000319032:S169F;ENSP00000416089:S169F;ENSP00000381932:S169F;ENSP00000381929:S169F	ENSP00000319032:S169F	S	+	2	0	DYRK1A	37774988	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.768000	0.85345	2.615000	0.88500	0.655000	0.94253	TCC		0.338	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		12	18	0	0	0	1	0	12	18				
LRP1B	53353	broad.mit.edu	37	2	141641418	141641418	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:141641418G>T	ENST00000389484.3	-	25	5108	c.4137C>A	c.(4135-4137)caC>caA	p.H1379Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1379					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCCCTGGGGTGTTCCATGG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4135-4137)caC>caA		low density lipoprotein receptor-related protein 1B							150.0	151.0	151.0					2																	141641418		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641418G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4137C>A	2.37:g.141641418G>T	ENSP00000374135:p.His1379Gln	TSP Lung(27;0.18)					p.H1379Q	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5108	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1379					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4137C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403540	0.42613	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96396	-4.0;-4.0	5.64	0.602	0.17535	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	N	0.17838	0.53	0.45837	D	0.998704	P;D	0.89917	0.908;1.0	P;D	0.87578	0.643;0.998	D	0.89055	0.3458	10	0.02654	T	1	.	11.8966	0.52659	0.4418:0.0:0.5582:0.0	.	562;1379	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Q	1379;1317;524	ENSP00000374135:H1379Q;ENSP00000413239:H524Q	ENSP00000374135:H1379Q	H	-	3	2	LRP1B	141357888	0.933000	0.31639	0.999000	0.59377	0.985000	0.73830	0.071000	0.14594	0.106000	0.17784	-0.122000	0.15005	CAC		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		55	88	1	0	1.93748e-29	1	2.16018e-29	55	88				
CCDC8	83987	broad.mit.edu	37	19	46914994	46914994	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1072-1074)aaC>aaT		coiled-coil domain containing 8							110.0	114.0	113.0					19																	46914994		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914994G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1074C>T	19.37:g.46914994G>A							p.N358N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1847	-			358					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1074C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070787	0.07228	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.36	-6.71	0.01760	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.43343	-0.9397	5	0.56958	D	0.05	-0.0528	4.9413	0.13967	0.3358:0.0:0.4408:0.2233	.	.	.	.	I	205	.	ENSP00000441180:T205I	T	-	2	0	CCDC8	51606834	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.986000	0.03747	-1.548000	0.01712	-0.772000	0.03388	ACC		0.587	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		4	115	0	0	0	1	0	4	115				
XPO4	64328	broad.mit.edu	37	13	21382702	21382702	+	Silent	SNP	T	T	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr13:21382702T>C	ENST00000255305.6	-	12	1583	c.1512A>G	c.(1510-1512)gtA>gtG	p.V504V	XPO4_ENST00000400602.2_Silent_p.V504V			Q9C0E2	XPO4_HUMAN	exportin 4	504					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGAGTCTTGTTACTCTTTCTT	0.358																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1510-1512)gtA>gtG		exportin 4							81.0	76.0	78.0					13																	21382702		1845	4079	5924	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21382702T>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1512A>G	13.37:g.21382702T>C						XPO4_ENST00000255305.6_Silent_p.V504V	p.V504V	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	12	1547	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	504					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.1512A>G	CCDS41872.1																																																																																				0.358	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		16	27	0	0	0	1	0	16	27				
ITIH2	3698	broad.mit.edu	37	10	7763677	7763677	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:7763677G>A	ENST00000358415.4	+	8	970	c.804G>A	c.(802-804)gcG>gcA	p.A268A	ITIH2_ENST00000379587.4_Silent_p.A257A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGGAGACTGCGGTAGATGGGG	0.557																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(802-804)gcG>gcA		inter-alpha-trypsin inhibitor heavy chain 2							180.0	161.0	168.0					10																	7763677		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763677G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.804G>A	10.37:g.7763677G>A						ITIH2_ENST00000379587.4_Silent_p.A257A	p.A268A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			8	970	+			268					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.804G>A	CCDS31141.1																																																																																				0.557	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		43	31	0	0	0	1	0	43	31				
SMG1	23049	broad.mit.edu	37	16	18882803	18882803	+	Splice_Site	SNP	T	T	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:18882803T>A	ENST00000446231.2	-	16	2597	c.2185A>T	c.(2185-2187)Aaa>Taa	p.K729*	SMG1_ENST00000389467.3_Splice_Site_p.K729*|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	729	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTAACAGTTTCCTGAAACAC	0.328																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.e16-1		SMG1 phosphatidylinositol 3-kinase-related kinase							42.0	39.0	40.0					16																	18882803		1815	4074	5889	SO:0001630	splice_region_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18882803T>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2184-1A>T	16.37:g.18882803T>A						SMG1_ENST00000389467.3_Splice_Site_p.K729_splice	p.K729_splice			Q96Q15	SMG1_HUMAN			16	2597	-			729			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Splice_Site	SNP	ENST00000446231.2	37	c.2183_splice	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	38	6.881018	0.97908	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.21	5.21	0.72293	.	0.073840	0.52532	U	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3728	0.74581	0.0:0.0:0.0:1.0	.	.	.	.	X	729	.	ENSP00000374118:K729X	K	-	1	0	SMG1	18790304	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.877000	0.56123	2.092000	0.63282	0.454000	0.30748	AAA		0.328	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	Nonsense_Mutation	13	11	0	0	0	1	0	13	11				
HTR1E	3354	broad.mit.edu	37	6	87726087	87726087	+	Silent	SNP	G	G	A	rs199813634		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:87726087G>A	ENST00000305344.5	+	2	1738	c.1035G>A	c.(1033-1035)acG>acA	p.T345T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGCTCTATACGAGTTTTAATG	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.0					ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(1033-1035)acG>acA		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						86.0	93.0	90.0					6																	87726087		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726087G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1035G>A	6.37:g.87726087G>A						HTR1E_ENST00000369584.1_Silent_p.T345T	p.T345T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1738	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	345					E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.1035G>A	CCDS5006.1																																																																																				0.443	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		40	79	0	0	0	1	0	40	79				
RNASE2	6036	broad.mit.edu	37	14	21424307	21424307	+	Missense_Mutation	SNP	C	C	T	rs199746668	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:21424307C>T	ENST00000304625.2	+	2	467	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	126					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.A126E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCAGGTATGCGCAGACACCA	0.458													C|||	2	0.000399361	0.0	0.0	5008	,	,		21354	0.0		0.0	False		,,,				2504	0.002					ENST00000304625.2																			1	Substitution - Missense(1)	p.A126E(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(376-378)gCg>gTg		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)		C	VAL/ALA	0,4406		0,0,2203	101.0	100.0	100.0		377	-6.0	0.0	14		100	3,8593	3.0+/-9.4	0,3,4295	no	missense	RNASE2	NM_002934.2	64	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	benign	126/162	21424307	3,12999	2203	4298	6501	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424307C>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.377C>T	14.37:g.21424307C>T	ENSP00000303276:p.Ala126Val						p.A126V	NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	467	+	all_cancers(95;0.00381)		126					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.377C>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	10.31	1.316253	0.23908	0.0	3.49E-4	ENSG00000169385	ENST00000304625	T	0.73047	-0.71	3.02	-6.03	0.02185	Ribonuclease A, domain (4);	3.289640	0.01599	U	0.021933	T	0.53834	0.1821	L	0.44542	1.39	0.09310	N	1	P	0.39940	0.696	B	0.27170	0.077	T	0.55515	-0.8129	10	0.59425	D	0.04	.	5.8781	0.18840	0.5184:0.2793:0.2022:0.0	.	126	P10153	RNAS2_HUMAN	V	126	ENSP00000303276:A126V	ENSP00000303276:A126V	A	+	2	0	RNASE2	20494147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.212000	0.01225	-1.559000	0.01688	0.455000	0.32223	GCG		0.458	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			40	77	0	0	0	1	0	40	77				
FRAS1	80144	broad.mit.edu	37	4	79372955	79372955	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:79372955G>A	ENST00000264895.6	+	46	6933	c.6493G>A	c.(6493-6495)Gaa>Aaa	p.E2165K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2165					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGAACAGGAGAACCTGGAGG	0.388																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(6493-6495)Gaa>Aaa		Fraser syndrome 1							98.0	90.0	93.0					4																	79372955		1838	4098	5936	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79372955G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6493G>A	4.37:g.79372955G>A	ENSP00000264895:p.Glu2165Lys						p.E2165K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			46	6933	+			2164					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.6493G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.394640|4.394640	0.83011|0.83011	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.44083|.	0.93|.	5.75|5.75	4.91|4.91	0.64330|0.64330	.|.	0.245029|.	0.40554|.	N|.	0.001066|.	T|T	0.80722|0.80722	0.4677|0.4677	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	D|D	0.84572|0.84572	0.0656|0.0656	10|5	0.44086|.	T|.	0.13|.	.|.	14.6844|14.6844	0.69040|0.69040	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	2165|.	E9PHH6|.	.|.	K|K	2165|393	ENSP00000264895:E2165K|.	ENSP00000264895:E2165K|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79591979|79591979	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.746000|0.746000	0.42486|0.42486	5.513000|5.513000	0.67037|0.67037	1.434000|1.434000	0.47414|0.47414	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.388	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	20	0	0	0	1	0	9	20				
SLCO5A1	81796	broad.mit.edu	37	8	70594470	70594470	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:70594470G>A	ENST00000260126.4	-	7	2437	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	SLCO5A1_ENST00000530307.1_Silent_p.Y522Y|SLCO5A1_ENST00000524945.1_Silent_p.Y577Y	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	577	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGGGTTAAAGTATGTAATTC	0.433																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1729-1731)taC>taT		solute carrier organic anion transporter family, member 5A1							186.0	159.0	168.0					8																	70594470		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594470G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1731C>T	8.37:g.70594470G>A						SLCO5A1_ENST00000524945.1_Silent_p.Y577Y|SLCO5A1_ENST00000530307.1_Silent_p.Y522Y	p.Y577Y	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		7	2437	-	Breast(64;0.0654)		577			Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1731C>T	CCDS6205.1																																																																																				0.433	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		50	74	0	0	0	1	0	50	74				
SYT15	83849	broad.mit.edu	37	10	46969272	46969272	+	Silent	SNP	C	C	G	rs542534244		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:46969272C>G	ENST00000374321.4	-	2	255	c.189G>C	c.(187-189)ccG>ccC	p.P63P	SYT15_ENST00000374325.3_Silent_p.P63P|SYT15_ENST00000374323.4_Intron|SYT15_ENST00000503753.1_Silent_p.P63P|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCCTAGCATGCGGCTGGCAGG	0.617																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(187-189)ccG>ccC		synaptotagmin XV							40.0	50.0	47.0					10																	46969272		2141	4258	6399	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46969272C>G	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.189G>C	10.37:g.46969272C>G						SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_Silent_p.P63P|SYT15_ENST00000503753.1_Silent_p.P63P	p.P63P	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	341	-			63					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.189G>C	CCDS44376.1																																																																																				0.617	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		11	63	0	0	0	1	0	11	63				
NME7	29922	broad.mit.edu	37	1	169256566	169256566	+	Silent	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:169256566A>G	ENST00000367811.3	-	7	985	c.729T>C	c.(727-729)atT>atC	p.I243I	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Silent_p.I207I	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGGGTTTAACAATGCAACAGG	0.358																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(727-729)atT>atC		NME/NM23 family member 7							243.0	243.0	243.0					1																	169256566		2203	4300	6503	SO:0001819	synonymous_variant	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256566A>G	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.729T>C	1.37:g.169256566A>G						NME7_ENST00000472647.1_Silent_p.I207I|NME7_ENST00000469474.1_5'UTR	p.I243I	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			7	985	-	all_hematologic(923;0.208)		243					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	ENST00000367811.3	37	c.729T>C	CCDS1277.1																																																																																				0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		107	180	0	0	0	1	0	107	180				
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	rs371409680		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	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	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)	TTCCTCTGTGCGCCGGTCTCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM021154	TP53	M		c.(847-849)cGc>cCc	Other conserved DNA damage response genes	tumor protein p53							86.0	73.0	78.0					17																	7577090		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577090C>G	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.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	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_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	980	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	28	0	0	0	1	0	26	28				
CRTAC1	55118	broad.mit.edu	37	10	99696030	99696030	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:99696030C>T	ENST00000370597.3	-	3	673	c.318G>A	c.(316-318)gcG>gcA	p.A106A	CRTAC1_ENST00000298819.4_Silent_p.A106A|CRTAC1_ENST00000370591.2_Silent_p.A106A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	106						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGTCCCGCAGCGCGTAGTAGG	0.617																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(316-318)gcG>gcA		cartilage acidic protein 1							67.0	55.0	59.0					10																	99696030		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696030C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.318G>A	10.37:g.99696030C>T						CRTAC1_ENST00000298819.4_Silent_p.A106A|CRTAC1_ENST00000370591.2_Silent_p.A106A	p.A106A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	673	-		Colorectal(252;0.24)	106					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.318G>A	CCDS31266.1																																																																																				0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		14	69	0	0	0	1	0	14	69				
SLCO5A1	81796	broad.mit.edu	37	8	70585279	70585279	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:70585279C>T	ENST00000260126.4	-	10	3078	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R736Q|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	791						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGATCTAGTCCGGGCATTGTC	0.572																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2371-2373)cGg>cAg		solute carrier organic anion transporter family, member 5A1							107.0	96.0	100.0					8																	70585279		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585279C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2372G>A	8.37:g.70585279C>T	ENSP00000260126:p.Arg791Gln					SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R736Q	p.R791Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	3078	-	Breast(64;0.0654)		791					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2372G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243292	0.95272	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.43688	1.02;0.94	5.93	5.93	0.95920	.	0.378221	0.27871	N	0.017501	T	0.61362	0.2341	L	0.54323	1.7	0.53688	D	0.999978	D;P	0.89917	1.0;0.873	D;B	0.79108	0.992;0.083	T	0.49560	-0.8927	10	0.24483	T	0.36	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	736;791	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	Q	791;736	ENSP00000260126:R791Q;ENSP00000431611:R736Q	ENSP00000260126:R791Q	R	-	2	0	SLCO5A1	70747833	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.150000	0.77403	2.826000	0.97356	0.655000	0.94253	CGG		0.572	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		32	55	0	0	0	1	0	32	55				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	A	rs104894229		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:534289C>A	ENST00000451590.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000417302.1_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12C	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		95	Substitution - Missense(95)	p.G12S(58)|p.G12C(25)|p.G12R(12)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)Ggc>Tgc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>T	11.37:g.534289C>A	ENSP00000407586:p.Gly12Cys	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000451590.1_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR	p.G12C	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	221	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306388	0.60305	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.86651	2.83	0.80722	A	1	P;P	0.39665	0.682;0.525	B;P	0.44394	0.32;0.448	D	0.90369	0.4379	9	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	C	12	ENSP00000380722:G12C;ENSP00000380723:G12C;ENSP00000407586:G12C;ENSP00000388246:G12C;ENSP00000309845:G12C	ENSP00000309845:G12C	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		44	27	1	0	4.18559e-23	1	4.46156e-23	44	27				
MYRIP	25924	broad.mit.edu	37	3	40231844	40231844	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:40231844A>G	ENST00000302541.6	+	10	1897	c.1555A>G	c.(1555-1557)Acc>Gcc	p.T519A	MYRIP_ENST00000539167.1_Missense_Mutation_p.T332A|MYRIP_ENST00000396217.3_Missense_Mutation_p.T430A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.T519A|MYRIP_ENST00000425621.1_Missense_Mutation_p.T519A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	519	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCCCCCCACACCACAGACCG	0.637																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1555-1557)Acc>Gcc		myosin VIIA and Rab interacting protein							40.0	46.0	44.0					3																	40231844		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231844A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1555A>G	3.37:g.40231844A>G	ENSP00000301972:p.Thr519Ala					MYRIP_ENST00000425621.1_Missense_Mutation_p.T519A|MYRIP_ENST00000539167.1_Missense_Mutation_p.T332A|MYRIP_ENST00000444716.1_Missense_Mutation_p.T519A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.T430A	p.T519A	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1897	+			519			Actin-binding.|Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1555A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	0.542	-0.853112	0.02630	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.94	-11.1	0.00147	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.129820	0.06393	N	0.717479	T	0.07773	0.0195	N	0.15975	0.35	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.16778	-1.0391	9	.	.	.	.	5.1735	0.15122	0.4934:0.1514:0.2791:0.0761	.	430;519;519	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	A	519;519;519;430;332	ENSP00000398665:T519A;ENSP00000301972:T519A;ENSP00000389323:T519A;ENSP00000379519:T430A;ENSP00000438297:T332A	.	T	+	1	0	MYRIP	40206848	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.017000	0.12590	-2.327000	0.00636	-0.899000	0.02877	ACC		0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		35	49	0	0	0	1	0	35	49				
TRIM51	84767	broad.mit.edu	37	11	55653083	55653083	+	Missense_Mutation	SNP	G	G	A	rs367940835		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:55653083G>A	ENST00000449290.2	+	2	271	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	60						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AAGACAACGCGGCAGAGAAAC	0.493													N|||	1	0.000199681	0.0008	0.0	5008	,	,		20247	0.0		0.0	False		,,,				2504	0.0					ENST00000449290.2																			0											c.(178-180)cGg>cAg		tripartite motif-containing 51							42.0	35.0	37.0					11																	55653083		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653083G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.179G>A	11.37:g.55653083G>A	ENSP00000395086:p.Arg60Gln						p.R60Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	271	+			60					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.179G>A		.	.	.	.	.	.	.	.	.	.	.	2.169	-0.390395	0.04932	.	.	ENSG00000124900	ENST00000449290	D	0.83673	-1.75	0.803	-1.49	0.08718	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.57301	0.2044	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.46569	-0.9182	9	0.06494	T	0.89	.	4.5388	0.12047	0.7295:0.0:0.2705:0.0	.	60	Q9BSJ1	SPRY5_HUMAN	Q	60	ENSP00000395086:R60Q	ENSP00000395086:R60Q	R	+	2	0	SPRYD5	55409659	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.181000	0.09740	-0.394000	0.07727	0.152000	0.16155	CGG		0.493	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		8	14	0	0	0	1	0	8	14				
GRM3	2913	broad.mit.edu	37	7	86394749	86394749	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:86394749G>C	ENST00000361669.2	+	2	1387	c.288G>C	c.(286-288)ttG>ttC	p.L96F	GRM3_ENST00000439827.1_Missense_Mutation_p.L96F|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.L94F|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	96				L -> F (in Ref. 4; AAH41407). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTCACATTTTGGATACATGTT	0.428																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(286-288)ttG>ttC		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						208.0	186.0	194.0					7																	86394749		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394749G>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.288G>C	7.37:g.86394749G>C	ENSP00000355316:p.Leu96Phe					GRM3_ENST00000394720.2_Missense_Mutation_p.L94F|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L96F|GRM3_ENST00000546348.1_Intron	p.L96F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			2	1387	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		96	L -> F (in Ref. 3; AAH41407).				Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.288G>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778057	0.70107	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.85556	-2.0;-2.0;-2.0	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.071003	0.56097	D	0.000021	D	0.91395	0.7285	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.91907	0.5536	10	0.87932	D	0	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	96;96	G5E9K2;Q14832	.;GRM3_HUMAN	F	96;96;94	ENSP00000355316:L96F;ENSP00000398767:L96F;ENSP00000378209:L94F	ENSP00000355316:L96F	L	+	3	2	GRM3	86232685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.011000	0.49567	2.732000	0.93576	0.655000	0.94253	TTG		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			75	130	0	0	0	1	0	75	130				
FRAS1	80144	broad.mit.edu	37	4	79203976	79203976	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:79203976G>T	ENST00000325942.6	+	12	1550	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	FRAS1_ENST00000264895.6_Missense_Mutation_p.E370D|FRAS1_ENST00000264899.6_Missense_Mutation_p.E370D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	370	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGCGTAGGAGGGAGAGAAGT	0.498																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1108-1110)gaG>gaT		Fraser syndrome 1							111.0	114.0	113.0					4																	79203976		2017	4184	6201	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79203976G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1110G>T	4.37:g.79203976G>T	ENSP00000326330:p.Glu370Asp					FRAS1_ENST00000325942.6_Missense_Mutation_p.E370D|FRAS1_ENST00000264899.6_Missense_Mutation_p.E370D	p.E370D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			12	1550	+			370			VWFC 6.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1110G>T	CCDS54772.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	3.840|3.840|3.840	-0.034079|-0.034079|-0.034079	0.07543|0.07543|0.07543	.|.|.	.|.|.	ENSG00000138759|ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000508900|ENST00000502446	T;T;T|.|.	0.59364|.|.	0.27;0.27;0.27|.|.	5.45|5.45|5.45	-0.444|-0.444|-0.444	0.12245|0.12245|0.12245	von Willebrand factor, type C (2);|.|.	0.138681|.|.	0.46758|.|.	N|.|.	0.000271|.|.	T|T|T	0.15435|0.15435|0.15435	0.0372|0.0372|0.0372	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.24421|0.24421|0.24421	N|N|N	0.994613|0.994613|0.994613	B;B;B;B|.|.	0.19200|.|.	0.001;0.001;0.034;0.002|.|.	B;B;B;B|.|.	0.18561|.|.	0.002;0.003;0.022;0.005|.|.	T|T|T	0.21586|0.21586|0.21586	-1.0241|-1.0241|-1.0241	10|5|5	0.07175|.|.	T|.|.	0.84|.|.	.|.|.	0.1511|0.1511|0.1511	0.00093|0.00093|0.00093	0.2571:0.2044:0.2585:0.2801|0.2571:0.2044:0.2585:0.2801|0.2571:0.2044:0.2585:0.2801	.|.|.	370;370;370;370|.|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.|.	.;FRAS1_HUMAN;.;.|.|.	D|W|M	370;370;370;110|213|299	ENSP00000326330:E370D;ENSP00000264895:E370D;ENSP00000264899:E370D|.|.	ENSP00000264895:E370D|.|.	E|G|R	+|+|+	3|1|2	2|0|0	FRAS1|FRAS1|FRAS1	79423000|79423000|79423000	0.558000|0.558000|0.558000	0.26554|0.26554|0.26554	0.798000|0.798000|0.798000	0.32154|0.32154|0.32154	0.448000|0.448000|0.448000	0.32197|0.32197|0.32197	-0.558000|-0.558000|-0.558000	0.05978|0.05978|0.05978	-0.487000|-0.487000|-0.487000	0.06735|0.06735|0.06735	-0.300000|-0.300000|-0.300000	0.09419|0.09419|0.09419	GAG|GGG|AGG		0.498	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			32	61	1	0	1.59932e-28	1	1.74308e-28	32	61				
OXSM	54995	broad.mit.edu	37	3	25833227	25833227	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:25833227G>T	ENST00000280701.3	+	2	815	c.716G>T	c.(715-717)tGt>tTt	p.C239F	OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	239					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ACAGATTCTTGTATTAGCCCT	0.488																																						ENST00000280701.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(715-717)tGt>tTt		3-oxoacyl-ACP synthase, mitochondrial							127.0	125.0	126.0					3																	25833227		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833227G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.716G>T	3.37:g.25833227G>T	ENSP00000280701:p.Cys239Phe					OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Intron	p.C239F	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	815	+			239						Missense_Mutation	SNP	ENST00000280701.3	37	c.716G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010344	0.75046	.	.	ENSG00000151093	ENST00000280701	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.123903	0.85682	D	0.000000	D	0.83792	0.5331	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82230	-0.0560	8	.	.	.	-11.0454	20.8598	0.99761	0.0:0.0:1.0:0.0	.	239	Q9NWU1	OXSM_HUMAN	F	239	.	.	C	+	2	0	OXSM	25808231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.555000	0.73928	2.937000	0.99478	0.650000	0.86243	TGT		0.488	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		38	85	1	0	1.5731e-28	1	1.73399e-28	38	85				
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	lincRNA	SNP	A	A	G	rs6583272	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824									long intergenic non-protein coding RNA 969																		CCTCAGGTGCAGATTGATGAG	0.473																																						ENST00000445430.1																			0																																																			440993							g.chr3:195410627A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410627A>G														0	1824	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.473	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	12	0	0	0	1	0	3	12				
IAH1	285148	broad.mit.edu	37	2	9616151	9616151	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:9616151G>A	ENST00000497473.1	+	2	154	c.117G>A	c.(115-117)ctG>ctA	p.L39L	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000470914.1_Intron|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_Intron	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	39					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGCATCGCTGGCTGACAGGC	0.478																																						ENST00000497473.1																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(115-117)ctG>ctA		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)							102.0	102.0	102.0					2																	9616151		1964	4161	6125	SO:0001819	synonymous_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9616151G>A	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.117G>A	2.37:g.9616151G>A						IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_Intron|IAH1_ENST00000470914.1_Intron	p.L39L	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN			2	154	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		39					B4DMV3	Silent	SNP	ENST00000497473.1	37	c.117G>A	CCDS42651.1																																																																																				0.478	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		24	34	0	0	0	1	0	24	34				
XIST	7503	broad.mit.edu	37	X	73067831	73067831	+	lincRNA	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:73067831C>T	ENST00000429829.1	-	0	4757					NR_001564.2				X inactive specific transcript (non-protein coding)																		GTGCAAAGGTCTTGACTAGAG	0.423																																						ENST00000429829.1																			0																				110.0	99.0	102.0					X																	73067831		876	1991	2867			7503							g.chrX:73067831C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73067831C>T								NR_001564.2						0	4757	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.423	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		33	9	0	0	0	1	0	33	9				
JMY	133746	broad.mit.edu	37	5	78602238	78602238	+	Missense_Mutation	SNP	G	G	A	rs369814387		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:78602238G>A	ENST00000396137.4	+	7	2384	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	641					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATCCAACAGCGCACTCGGATT	0.313																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1921-1923)cGc>cAc		junction mediating and regulatory protein, p53 cofactor		G	HIS/ARG	1,3687		0,1,1843	136.0	126.0	129.0		1922	3.4	0.8	5		129	0,8176		0,0,4088	no	missense	JMY	NM_152405.4	29	0,1,5931	AA,AG,GG		0.0,0.0271,0.0084	benign	641/989	78602238	1,11863	1844	4088	5932	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78602238G>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1922G>A	5.37:g.78602238G>A	ENSP00000379441:p.Arg641His					JMY_ENST00000412001.1_Intron	p.R641H	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	7	2384	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	641					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.1922G>A	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805026	0.50315	2.71E-4	0.0	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.08008	3.14	5.19	3.41	0.39046	.	0.301451	0.33199	N	0.005180	T	0.10895	0.0266	M	0.68952	2.095	0.58432	D	0.999993	B	0.18968	0.032	B	0.15870	0.014	T	0.03795	-1.1003	10	0.51188	T	0.08	.	9.8972	0.41327	0.2209:0.0:0.7791:0.0	.	641	Q8N9B5	JMY_HUMAN	H	641	ENSP00000379441:R641H	ENSP00000282259:R641H	R	+	2	0	JMY	78637994	1.000000	0.71417	0.842000	0.33263	0.996000	0.88848	2.803000	0.47924	0.696000	0.31696	0.655000	0.94253	CGC		0.313	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		5	308	0	0	0	1	0	5	308				
SPATA31E1	286234	broad.mit.edu	37	9	90500052	90500052	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:90500052C>T	ENST00000325643.5	+	4	716	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	217	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGACCACACTCAACCCTGAGT	0.617																																						ENST00000325643.5																			0											c.(649-651)tCa>tTa		SPATA31 subfamily E, member 1							101.0	108.0	106.0					9																	90500052		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90500052C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.650C>T	9.37:g.90500052C>T	ENSP00000322640:p.Ser217Leu						p.S217L	NM_178828.4	NP_849150.3					4	716	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.650C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	12.25	1.882267	0.33255	.	.	ENSG00000177992	ENST00000325643	T	0.08458	3.09	1.05	1.05	0.20165	.	.	.	.	.	T	0.12561	0.0305	M	0.67397	2.05	0.09310	N	1	D	0.54964	0.969	P	0.50192	0.634	T	0.20009	-1.0288	9	0.23891	T	0.37	.	5.4235	0.16413	0.0:1.0:0.0:0.0	.	217	Q6ZUB1	CI079_HUMAN	L	217	ENSP00000322640:S217L	ENSP00000322640:S217L	S	+	2	0	C9orf79	89689872	0.003000	0.15002	0.002000	0.10522	0.154000	0.21943	0.818000	0.27295	0.847000	0.35167	0.305000	0.20034	TCA		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		105	82	0	0	0	1	0	105	82				
DDX60	55601	broad.mit.edu	37	4	169227710	169227710	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:169227710G>A	ENST00000393743.3	-	5	717	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	142					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAACTATCAGGAAATATGGGT	0.393																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(424-426)ttC>ttT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							99.0	103.0	102.0					4																	169227710		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227710G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.426C>T	4.37:g.169227710G>A							p.F142F	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	717	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	142					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.426C>T	CCDS34097.1																																																																																				0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		34	75	0	0	0	1	0	34	75				
HSPG2	3339	broad.mit.edu	37	1	22222715	22222715	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:22222715G>A	ENST00000374695.3	-	2	231	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	51					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGAAAGGTACGAATGTGTCCA	0.562																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(151-153)tCg>tTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						259.0	211.0	227.0					1																	22222715		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22222715G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.152C>T	1.37:g.22222715G>A	ENSP00000363827:p.Ser51Leu						p.S51L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	2	231	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	51					Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.152C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.838027	0.32513	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	T;T;T	0.76578	-1.03;0.45;0.79	4.85	3.93	0.45458	.	0.516934	0.14546	N	0.312973	T	0.64125	0.2570	N	0.19112	0.55	0.09310	N	1	B;B	0.20887	0.049;0.002	B;B	0.16722	0.016;0.002	T	0.58103	-0.7695	10	0.72032	D	0.01	.	9.7669	0.40565	0.0983:0.0:0.9017:0.0	.	30;51	Q5SZI5;P98160	.;PGBM_HUMAN	L	51;30;17	ENSP00000363827:S51L;ENSP00000405412:S30L;ENSP00000395884:S17L	ENSP00000363827:S51L	S	-	2	0	HSPG2	22095302	0.041000	0.20044	0.005000	0.12908	0.010000	0.07245	2.497000	0.45354	1.144000	0.42321	0.643000	0.83706	TCG		0.562	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		61	103	0	0	0	1	0	61	103				
RPS6KA5	9252	broad.mit.edu	37	14	91369252	91369252	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:91369252C>A	ENST00000261991.3	-	9	1192	c.1019G>T	c.(1018-1020)cGa>cTa	p.R340L	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R261L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R340L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	340	AGC-kinase C-terminal.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TAATTCATCTCGAATGACTGG	0.408																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1018-1020)cGa>cTa		ribosomal protein S6 kinase, 90kDa, polypeptide 5							115.0	101.0	106.0					14																	91369252		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91369252C>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1019G>T	14.37:g.91369252C>A	ENSP00000261991:p.Arg340Leu					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R261L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R340L	p.R340L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	9	1192	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	340			AGC-kinase C-terminal.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1019G>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119431	0.37436	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.53640	0.61;0.61;0.61	5.6	5.6	0.85130	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.72118	2.19	0.58432	D	0.999999	P;B	0.36086	0.536;0.272	B;B	0.26094	0.066;0.028	T	0.40701	-0.9549	10	0.33940	T	0.23	.	12.893	0.58082	0.0:0.9257:0.0:0.0742	.	340;340	O75582-2;O75582	.;KS6A5_HUMAN	L	340;261;340	ENSP00000261991:R340L;ENSP00000442803:R261L;ENSP00000402787:R340L	ENSP00000261991:R340L	R	-	2	0	RPS6KA5	90439005	1.000000	0.71417	0.993000	0.49108	0.329000	0.28539	6.068000	0.71201	2.632000	0.89209	0.563000	0.77884	CGA		0.408	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		16	50	1	0	1.67942e-08	1	1.73301e-08	16	50				
KEL	3792	broad.mit.edu	37	7	142637512	142637512	+	IGR	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:142637512G>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.M94I	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGTGGACATGGCCCAGCAGG	0.527																																						ENST00000409607.3																			0				large_intestine(1)|lung(4)	5						c.(280-282)atG>atA		chromosome 7 open reading frame 34							149.0	136.0	141.0					7																	142637512		2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142637512G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637512G>A							p.M94I	NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN			2	323	+	Melanoma(164;0.059)		69					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.282G>A	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.96|15.96	2.987152|2.987152	0.53934|0.53934	.|.	.|.	ENSG00000165131|ENSG00000165131	ENST00000458732|ENST00000409607	.|.	.|.	.|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.47190|0.47190	1.495|1.495	0.32875|0.32875	D|D	0.509744|0.509744	.|D	.|0.67145	.|0.996	.|D	.|0.76071	.|0.987	T|T	0.72903|0.72903	-0.4151|-0.4151	5|9	.|0.87932	.|D	.|0	-15.6993|-15.6993	12.6344|12.6344	0.56675|0.56675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|69	.|Q96L11	.|CG034_HUMAN	S|I	100|94	.|.	.|ENSP00000386450:M94I	G|M	+|+	1|3	0|0	C7orf34|C7orf34	142347634|142347634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.815000|0.815000	0.46073|0.46073	4.823000|4.823000	0.62694|0.62694	2.430000|2.430000	0.82344|0.82344	0.556000|0.556000	0.70494|0.70494	GGC|ATG		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		39	68	0	0	0	1	0	39	68				
ADH5	128	broad.mit.edu	37	4	100003216	100003216	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:100003216C>T	ENST00000296412.8	-	3	216	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CCCTCAGGATCAGCTCCACTC	0.468																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(166-168)Gat>Aat		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						76.0	72.0	73.0					4																	100003216		1928	4132	6060	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:100003216C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.166G>A	4.37:g.100003216C>T	ENSP00000296412:p.Asp56Asn					ADH5_ENST00000512991.1_5'UTR	p.D56N	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	3	216	-			56						Missense_Mutation	SNP	ENST00000296412.8	37	c.166G>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966677	0.74131	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.03358	3.96;3.96	5.18	5.18	0.71444	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.047533	0.85682	D	0.000000	T	0.04998	0.0134	L	0.33293	1	0.80722	D	1	B;B	0.29270	0.24;0.24	B;B	0.32393	0.145;0.145	T	0.53760	-0.8393	9	.	.	.	.	18.8829	0.92364	0.0:1.0:0.0:0.0	.	56;56	Q5U043;P11766	.;ADHX_HUMAN	N	56;52	ENSP00000296412:D56N;ENSP00000427049:D52N	.	D	-	1	0	ADH5	100222239	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.165000	0.42396	2.705000	0.92388	0.650000	0.86243	GAT		0.468	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		11	30	0	0	0	1	0	11	30				
PRG4	10216	broad.mit.edu	37	1	186276363	186276363	+	Missense_Mutation	SNP	G	G	T	rs113621509		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:186276363G>T	ENST00000445192.2	+	7	1557	c.1512G>T	c.(1510-1512)aaG>aaT	p.K504N	PRG4_ENST00000367483.4_Missense_Mutation_p.K463N|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.K461N|PRG4_ENST00000367485.4_Missense_Mutation_p.K411N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	504	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.647																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1510-1512)aaG>aaT		proteoglycan 4							110.0	112.0	111.0					1																	186276363		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276363G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1512G>T	1.37:g.186276363G>T	ENSP00000399679:p.Lys504Asn					PRG4_ENST00000367486.3_Missense_Mutation_p.K461N|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K463N|PRG4_ENST00000367485.4_Missense_Mutation_p.K411N	p.K504N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1557	+			504			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1512G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	g	6.956	0.546268	0.13312	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.41;3.5;3.41;3.51	3.83	-2.06	0.07298	.	.	.	.	.	T	0.08714	0.0216	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.29037	0.231;0.231;0.089;0.231	B;B;B;B	0.30782	0.12;0.12;0.056;0.12	T	0.29427	-1.0012	8	.	.	.	.	9.6523	0.39906	0.4082:0.0:0.5918:0.0	.	370;411;504;463	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	461;370;463;411;504	ENSP00000356456:K461N;ENSP00000356453:K463N;ENSP00000356455:K411N;ENSP00000399679:K504N	.	K	+	3	2	PRG4	184542986	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.841000	0.04359	-0.348000	0.08286	0.298000	0.19748	AAG		0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		45	72	1	0	2.59344e-38	1	2.92516e-38	45	72				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	95	0	0	0	1	0	6	95				
OR52E8	390079	broad.mit.edu	37	11	5878254	5878254	+	Silent	SNP	G	G	A	rs199919100	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:5878254G>A	ENST00000537935.1	-	1	710	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATACAGGATCCTGACA	0.458													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		15757	0.0		0.0	False		,,,				2504	0.001					ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(679-681)Ctg>Ttg		olfactory receptor, family 52, subfamily E, member 8							71.0	78.0	76.0					11																	5878254		2141	4296	6437	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878254G>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.679C>T	11.37:g.5878254G>A						TRIM5_ENST00000380027.1_Intron	p.L227L	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	710	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	227					B9EH38	Silent	SNP	ENST00000537935.1	37	c.679C>T	CCDS31400.1																																																																																				0.458	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		6	158	0	0	0	1	0	6	158				
RP11-400N13.1	0	broad.mit.edu	37	1	222435119	222435119	+	lincRNA	DEL	T	T	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:222435119delT	ENST00000416510.1	-	0	167																											CAATAATTTCTTTTTTTTTTA	0.299																																						ENST00000416510.1																			0																																																			0							g.chr1:222435119delT																													1.37:g.222435119delT														0	167	-									RNA	DEL	ENST00000416510.1	37																																																																																						0.299	RP11-400N13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000090767.1			2	4						2	4	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245690	46245690	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:46245690delA	ENST00000334344.6	+	15	3956	c.3784delA	c.(3784-3786)aaafs	p.K1262fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1113fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Frame_Shift_Del_p.K872fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1262					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATGAACGTAAAATTGAAGT	0.423			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3784-3786)aafs		AT rich interactive domain 2 (ARID, RFX-like)							66.0	62.0	64.0					12																	46245690		2203	4300	6503	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245690delA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3784delA	12.37:g.46245690delA	ENSP00000335044:p.Lys1262fs					ARID2_ENST00000444670.1_Frame_Shift_Del_p.K872fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1113fs|ARID2_ENST00000479608.1_3'UTR	p.K1262fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3956	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1262					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.3784delA	CCDS31783.1																																																																																				0.423	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		51	22						51	22	---	---	---	---
FRG2JP	101059926	broad.mit.edu	37	16	34481062	34481062	+	lincRNA	DEL	A	A	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:34481062delA	ENST00000569557.2	+	0	63																											CCTTTGGGGCAAAAAAAAAAA	0.438																																						ENST00000569557.2																			0																																																			0							g.chr16:34481062delA																													16.37:g.34481062delA														0	63	+									RNA	DEL	ENST00000569557.2	37																																																																																						0.438	RP11-488I20.8-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431667.2			3	3						3	3	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2248458	2248458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:2248458delC	ENST00000221494.5	+	9	1726	c.1308delC	c.(1306-1308)cacfs	p.H436fs	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	436	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGTGCACCCCCCAACTC	0.682																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1306-1308)cafs		splicing factor 3a, subunit 2, 66kDa							8.0	11.0	10.0					19																	2248458		1923	4092	6015	SO:0001589	frameshift_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248458delC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1308delC	19.37:g.2248458delC	ENSP00000221494:p.His436fs						p.H436fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1726	+		Hepatocellular(1079;0.137)	436			Pro-rich.		B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.1308delC	CCDS12084.1																																																																																				0.682	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			2	4						2	4	---	---	---	---
CRLF1	9244	broad.mit.edu	37	19	18704897	18704898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:18704897_18704898insT	ENST00000392386.3	-	8	1425_1426	c.1232_1233insA	c.(1231-1233)tcgfs	p.S411fs	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	411					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCCGTCTGCCCGAGGGCAGGAT	0.668																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1231-1233)tggfs		cytokine receptor-like factor 1																																				SO:0001589	frameshift_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18704897_18704898insT	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1232_1233insA	19.37:g.18704897_18704898insT	ENSP00000376188:p.Ser411fs					CRLF1_ENST00000594325.1_Intron	p.W411fs	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			8	1425_1426	-			411					Q9UHH5	Frame_Shift_Ins	INS	ENST00000392386.3	37	c.1232_1233insA	CCDS32962.1																																																																																				0.668	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			2	4						2	4	---	---	---	---
ZNF234	10780	broad.mit.edu	37	19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gaafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(184-186)gafs		zinc finger protein 234							63.0	54.0	57.0					19																	44654608		1879	4112	5991	SO:0001589	frameshift_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44654608delA	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.185delA	19.37:g.44654608delA	ENSP00000400878:p.Glu62fs					ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			5	443	+		Prostate(69;0.0435)	62			KRAB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL	ENST00000426739.2	37	c.185delA	CCDS46101.1																																																																																				0.368	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			2	4						2	4	---	---	---	---
LINC01278	92249	broad.mit.edu	37	X	62733894	62733894	+	RNA	DEL	C	C	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:62733894delC	ENST00000609401.1	-	0	335					NR_015353.1																						gagctcatatccaaggttact	0.433																																						ENST00000433061.1																			0																																																			92249							g.chrX:62733894delC																													X.37:g.62733894delC														0	391	-									RNA	DEL	ENST00000609401.1	37																																																																																						0.433	RP11-357C3.3-003	KNOWN	basic	sense_overlapping	processed_transcript	OTTHUMT00000471675.1			2	4						2	4	---	---	---	---
