#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_type
S1PR1	1901	broad.mit.edu	37	1	101705330	101705330	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr1:101705330G>A	ENST00000305352.6	+	2	1165	c.790G>A	c.(790-792)Gtc>Atc	p.V264I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	264					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.V264I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGTCCTGAGCGTCTTCATCGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											112.0	112.0	112.0					1																	101705330		2203	4300	6503	101477918	SO:0001583	missense	1901			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.790G>A	1.37:g.101705330G>A	ENSP00000305416:p.Val264Ile		101477918	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092581	0.56075	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.75154	-0.91	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.358206	0.32328	N	0.006250	T	0.67230	0.2871	M	0.63843	1.955	0.43708	D	0.996174	P	0.34934	0.476	B	0.36030	0.216	T	0.73375	-0.4002	10	0.62326	D	0.03	.	18.5871	0.91194	0.0:0.0:1.0:0.0	.	264	P21453	S1PR1_HUMAN	I	264	ENSP00000305416:V264I	ENSP00000305416:V264I	V	+	1	0	S1PR1	101477918	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.825000	0.69286	2.378000	0.81104	0.305000	0.20034	GTC		0.587	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		Missense_Mutation
SPRR2A	6700	broad.mit.edu	37	1	153028999	153028999	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr1:153028999G>T	ENST00000392653.2	-	2	298	c.213C>A	c.(211-213)agC>agA	p.S71R		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	71					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.S71R(1)		large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTTACTTGCTCTTCGGTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											221.0	205.0	211.0					1																	153028999		2203	4300	6503	151295623	SO:0001583	missense	6700			X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.213C>A	1.37:g.153028999G>T	ENSP00000376423:p.Ser71Arg		151295623	B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	37	CCDS1034.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094774	0.20471	.	.	ENSG00000241794	ENST00000392653	T	0.36520	1.25	2.27	1.32	0.21799	.	0.173232	0.28119	N	0.016537	T	0.15392	0.0371	.	.	.	0.21841	N	0.999519	B	0.31174	0.311	B	0.39617	0.305	T	0.16867	-1.0388	9	0.87932	D	0	.	5.2517	0.15524	0.1735:0.0:0.8265:0.0	.	71	P35326	SPR2A_HUMAN	R	71	ENSP00000376423:S71R	ENSP00000376423:S71R	S	-	3	2	SPRR2A	151295623	1.000000	0.71417	0.960000	0.40013	0.426000	0.31534	2.126000	0.42026	0.484000	0.27630	0.407000	0.27541	AGC		0.507	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988		Missense_Mutation
LGR6	59352	broad.mit.edu	37	1	202275996	202275996	+	Splice_Site	SNP	C	C	T	rs563721511	byFrequency	TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr1:202275996C>T	ENST00000367278.3	+	13	1226	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	LGR6_ENST00000255432.7_Splice_Site_p.I327I|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Splice_Site_p.I240I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	379					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.I379I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGCCCTAGCGGCCTCCAAC	0.627													C|||	3	0.000599042	0.0	0.0	5008	,	,		16774	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	ovary(1)	1											45.0	45.0	45.0					1																	202275996		2203	4300	6503	200542619	SO:0001630	splice_region_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1137-1C>T	1.37:g.202275996C>T			200542619	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	CCDS30971.1	SNP	27	Broad																																																																																				0.627	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	Silent	Silent
SYT2	127833	broad.mit.edu	37	1	202571549	202571549	+	Missense_Mutation	SNP	C	C	T	rs201875273		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr1:202571549C>T	ENST00000367267.1	-	5	782	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	SYT2_ENST00000367268.4_Missense_Mutation_p.R197Q|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	197	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R197Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CAGTGTCTTCCGATGGACTTT	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19530	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	1											153.0	145.0	148.0					1																	202571549		2203	4300	6503	200838172	SO:0001583	missense	127833			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.590G>A	1.37:g.202571549C>T	ENSP00000356236:p.Arg197Gln		200838172	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	SNP	23	Broad	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.0	4.356568	0.82243	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.69806	-0.43;-0.43	5.58	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.117127	0.56097	D	0.000031	T	0.75903	0.3913	M	0.61703	1.905	0.46901	D	0.999246	D	0.89917	1.0	D	0.66196	0.942	T	0.77550	-0.2546	10	0.87932	D	0	.	9.3505	0.38136	0.0:0.7941:0.0:0.2059	.	197	Q8N9I0	SYT2_HUMAN	Q	197	ENSP00000356237:R197Q;ENSP00000356236:R197Q	ENSP00000356236:R197Q	R	-	2	0	SYT2	200838172	0.991000	0.36638	0.664000	0.29753	0.984000	0.73092	1.752000	0.38349	1.361000	0.45981	0.655000	0.94253	CGG		0.527	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		Missense_Mutation
FMN2	56776	broad.mit.edu	37	1	240371922	240371922	+	Silent	SNP	C	C	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr1:240371922C>A	ENST00000319653.9	+	5	4040	c.3810C>A	c.(3808-3810)ggC>ggA	p.G1270G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1270					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1413G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCAAGTGGCTTGTTTGGAT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											57.0	57.0	57.0					1																	240371922		2203	4300	6503	238438545	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3810C>A	1.37:g.240371922C>A			238438545	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2	SNP	28	Broad																																																																																				0.507	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		Silent
ZMIZ1	57178	broad.mit.edu	37	10	81052045	81052045	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr10:81052045G>A	ENST00000334512.5	+	11	1461	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	297	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A297T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCTACAGCCACAGCCAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											41.0	45.0	44.0					10																	81052045		2013	3936	5949	80722051	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.889G>A	10.37:g.81052045G>A	ENSP00000334474:p.Ala297Thr		80722051	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445809	0.63178	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.38077	1.16	5.16	5.16	0.70880	.	0.000000	0.39544	U	0.001329	T	0.59542	0.2201	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.976	D;P	0.81914	0.995;0.858	T	0.57814	-0.7746	10	0.39692	T	0.17	-16.8673	18.6528	0.91437	0.0:0.0:1.0:0.0	.	207;297	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	297;227;203	ENSP00000334474:A297T	ENSP00000334474:A297T	A	+	1	0	ZMIZ1	80722051	1.000000	0.71417	0.956000	0.39512	0.637000	0.38172	8.904000	0.92590	2.399000	0.81585	0.563000	0.77884	GCC		0.627	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		Missense_Mutation
LRIT2	340745	broad.mit.edu	37	10	85981799	85981799	+	Silent	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr10:85981799G>A	ENST00000372113.4	-	3	1535	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	LRIT2_ENST00000538192.1_Silent_p.T520T	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	510			T -> P (in dbSNP:rs6585847).			integral component of membrane (GO:0016021)		p.T510T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGGCTGCAGGGGTGCAGCTGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	10											56.0	63.0	61.0					10																	85981799		2201	4299	6500	85971779	SO:0001819	synonymous_variant	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1530C>T	10.37:g.85981799G>A			85971779	B7ZME6	Silent	SNP	ENST00000372113.4	37	CCDS31234.1	SNP	43	Broad																																																																																				0.627	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		Silent
SF1	7536	broad.mit.edu	37	11	64537020	64537020	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr11:64537020C>T	ENST00000377390.3	-	6	878	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G181R|SF1_ENST00000377387.1_Missense_Mutation_p.G306R|SF1_ENST00000377394.3_Missense_Mutation_p.G181R|SF1_ENST00000433274.2_Missense_Mutation_p.G155R|SF1_ENST00000227503.9_Missense_Mutation_p.G181R|SF1_ENST00000422298.2_Missense_Mutation_p.G66R	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	181	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G181R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTCACAGACCCTTTCCCCCGG	0.473																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	11											252.0	254.0	254.0					11																	64537020		2201	4297	6498	64293596	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.541G>A	11.37:g.64537020C>T	ENSP00000366607:p.Gly181Arg		64293596	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	35	5.466305	0.96257	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	6.04	6.04	0.98038	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.81807	-0.0763	10	0.87932	D	0	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	66;181;181;181;181;306	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	R	306;181;181;181;181;66;155	ENSP00000366604:G306R;ENSP00000366607:G181R;ENSP00000227503:G181R;ENSP00000366611:G181R;ENSP00000334414:G181R;ENSP00000413084:G66R;ENSP00000396793:G155R	ENSP00000227503:G181R	G	-	1	0	SF1	64293596	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.458000	0.80787	2.873000	0.98535	0.563000	0.77884	GGG		0.473	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		Missense_Mutation
CACNA1C	775	broad.mit.edu	37	12	2716201	2716201	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr12:2716201A>T	ENST00000347598.4	+	27	3321	c.3321A>T	c.(3319-3321)caA>caT	p.Q1107H	CACNA1C_ENST00000399655.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1107H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1087H|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1112H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1087H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1107					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Q622H(1)|p.Q1137H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCATCCAACCCCGCAGCT	0.547																																																2	Substitution - Missense(2)	ovary(2)	12											63.0	69.0	67.0					12																	2716201		2142	4273	6415	2586462	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3321A>T	12.37:g.2716201A>T	ENSP00000266376:p.Gln1107His		2586462	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	SNP	2	Broad	.	.	.	.	.	.	.	.	.	.	A	16.90	3.251146	0.59212	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.87	2.96	0.34315	Ion transport (1);	0.184155	0.48767	D	0.000165	D	0.96620	0.8897	N	0.17379	0.485	0.31608	N	0.651836	D;D;B;D;P;D;P;B;B;P;P;B;P;P;P;D;B;P;B;P;P;P;P;P;P	0.58620	0.983;0.963;0.003;0.971;0.936;0.963;0.889;0.001;0.0;0.936;0.904;0.001;0.889;0.921;0.909;0.969;0.001;0.936;0.0;0.904;0.936;0.936;0.923;0.589;0.923	P;P;B;P;P;P;P;B;B;P;P;B;P;P;P;P;B;P;B;P;P;P;P;B;P	0.59761	0.807;0.735;0.004;0.807;0.735;0.735;0.785;0.002;0.005;0.735;0.563;0.007;0.785;0.69;0.863;0.655;0.005;0.735;0.002;0.563;0.735;0.735;0.662;0.247;0.662	D	0.95433	0.8518	10	0.54805	T	0.06	.	10.6436	0.45606	0.2199:0.0:0.7801:0.0	.	1087;1084;1107;1087;1087;1087;1087;1087;1087;1107;1087;1058;1107;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	1112;1087;1087;1087;1087;1087;1087;1087;1087;1087;1107;1107;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;928	ENSP00000336982:Q1112H;ENSP00000382563:Q1087H;ENSP00000437936:Q1087H;ENSP00000382552:Q1087H;ENSP00000382547:Q1087H;ENSP00000382506:Q1087H;ENSP00000382530:Q1087H;ENSP00000382546:Q1087H;ENSP00000382500:Q1087H;ENSP00000382549:Q1087H;ENSP00000266376:Q1107H;ENSP00000382515:Q1107H;ENSP00000382510:Q1087H;ENSP00000341092:Q1087H;ENSP00000382537:Q1087H;ENSP00000329877:Q1087H;ENSP00000382557:Q1087H;ENSP00000385724:Q1087H;ENSP00000382512:Q1087H;ENSP00000382542:Q1087H;ENSP00000382526:Q1087H;ENSP00000385896:Q1087H;ENSP00000382504:Q1087H	ENSP00000323129:Q928H	Q	+	3	2	CACNA1C	2586462	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.251000	0.43187	0.755000	0.32990	-0.177000	0.13119	CAA		0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		Missense_Mutation
SPTLC2	9517	broad.mit.edu	37	14	77987880	77987880	+	Silent	SNP	T	T	G			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr14:77987880T>G	ENST00000216484.2	-	10	1541	c.1348A>C	c.(1348-1350)Agg>Cgg	p.R450R		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	450				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.R450R(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGCGTCTCCTGAAATACCTG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	14											121.0	104.0	110.0					14																	77987880		2203	4300	6503	77057633	SO:0001819	synonymous_variant	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1348A>C	14.37:g.77987880T>G			77057633	Q16685	Silent	SNP	ENST00000216484.2	37	CCDS9865.1	SNP	55	Broad																																																																																				0.408	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		Silent
NRXN3	9369	broad.mit.edu	37	14	80130238	80130238	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr14:80130238G>A	ENST00000557594.1	+	3	1500	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	NRXN3_ENST00000428277.2_Missense_Mutation_p.G183S|NRXN3_ENST00000554719.1_Missense_Mutation_p.G815S|NRXN3_ENST00000281127.7_Missense_Mutation_p.G183S|NRXN3_ENST00000335750.5_Missense_Mutation_p.G815S|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_3'UTR	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	183	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.G815S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAGGAACGGCGGCAACGCCAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											125.0	110.0	115.0					14																	80130238		2203	4300	6503	79199991	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.547G>A	14.37:g.80130238G>A	ENSP00000451672:p.Gly183Ser		79199991	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	34	5.393262	0.96009	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.77229	-1.08;-1.08;0.92;0.92;0.92	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	M	0.78637	2.42	0.80722	D	1	D;D;D;P	0.89917	0.987;1.0;1.0;0.889	P;D;D;P	0.91635	0.819;0.999;0.999;0.747	D	0.87815	0.2634	9	.	.	.	.	20.047	0.97613	0.0:0.0:1.0:0.0	.	183;183;183;815	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	S	1188;1177;815;815;183;183;183	ENSP00000451648:G815S;ENSP00000338349:G815S;ENSP00000451672:G183S;ENSP00000281127:G183S;ENSP00000394426:G183S	.	G	+	1	0	NRXN3	79199991	1.000000	0.71417	0.963000	0.40424	0.627000	0.37826	9.792000	0.99085	2.802000	0.96397	0.563000	0.77884	GGC		0.488	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		Missense_Mutation
DIO3	1735	broad.mit.edu	37	14	102028204	102028204	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr14:102028204A>T	ENST00000510508.4	+	1	517	c.371A>T	c.(370-372)gAt>gTt	p.D124V	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.D98V			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	124					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.D98V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CAGAAGTTGGATTTCTTCAAG	0.662																																																1	Substitution - Missense(1)	ovary(1)	14											47.0	52.0	50.0					14																	102028204		2018	4167	6185	101097957	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.371A>T	14.37:g.102028204A>T	ENSP00000427336:p.Asp124Val		101097957	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063739	0.76187	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.36878	1.23;1.23	3.18	3.18	0.36537	Thioredoxin-like fold (1);	0.000000	0.56097	U	0.000031	T	0.60353	0.2262	M	0.87758	2.905	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	T	0.67225	-0.5724	10	0.87932	D	0	.	10.8448	0.46737	1.0:0.0:0.0:0.0	.	98	P55073	IOD3_HUMAN	V	98;124	ENSP00000352273:D98V;ENSP00000427336:D124V	ENSP00000352273:D124V	D	+	2	0	DIO3;AL049836.1	101097957	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.033000	0.93741	1.316000	0.45131	0.374000	0.22700	GAT		0.662	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		Missense_Mutation
CSPG4	1464	broad.mit.edu	37	15	75979817	75979817	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr15:75979817C>T	ENST00000308508.5	-	3	3681	c.3589G>A	c.(3589-3591)Gtt>Att	p.V1197I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1197	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.V1197I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTATAGAGAACGGCCCCATCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	15											53.0	55.0	54.0					15																	75979817		2197	4292	6489	73766872	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3589G>A	15.37:g.75979817C>T	ENSP00000312506:p.Val1197Ile		73766872	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	.	3.015	-0.203120	0.06180	.	.	ENSG00000173546	ENST00000308508	T	0.26373	1.74	5.07	-10.1	0.00402	.	0.972784	0.08427	N	0.947545	T	0.08802	0.0218	N	0.04820	-0.15	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35919	-0.9769	10	0.16896	T	0.51	.	10.2453	0.43336	0.0:0.1438:0.1773:0.6789	.	1197	Q6UVK1	CSPG4_HUMAN	I	1197	ENSP00000312506:V1197I	ENSP00000312506:V1197I	V	-	1	0	CSPG4	73766872	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.736000	0.04882	-2.102000	0.00845	-0.263000	0.10527	GTT		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		Missense_Mutation
ADCY9	115	broad.mit.edu	37	16	4042224	4042224	+	Silent	SNP	C	C	T	rs199753697		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr16:4042224C>T	ENST00000294016.3	-	5	2668	c.2130G>A	c.(2128-2130)tcG>tcA	p.S710S	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	710					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S710S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAAGGAGAGCCGACTGGTCCA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	16											104.0	91.0	96.0					16																	4042224		2197	4300	6497	3982225	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2130G>A	16.37:g.4042224C>T			3982225	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1	SNP	23	Broad																																																																																				0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			Silent
GP2	2813	broad.mit.edu	37	16	20335393	20335393	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr16:20335393G>T	ENST00000381362.4	-	3	356	c.280C>A	c.(280-282)Cgc>Agc	p.R94S	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.R94S	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	94					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.R94S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTACAAAGCGGTACCAGCCG	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											78.0	65.0	69.0					16																	20335393		2203	4300	6503	20242894	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.280C>A	16.37:g.20335393G>T	ENSP00000370767:p.Arg94Ser		20242894	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973435	0.92919	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99637	-6.29;-6.29	5.03	5.03	0.67393	.	.	.	.	.	D	0.99677	0.9879	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97574	1.0106	9	0.87932	D	0	-33.5946	15.9115	0.79477	0.0:0.0:1.0:0.0	.	94;94	P55259-3;P55259	.;GP2_HUMAN	S	94	ENSP00000304044:R94S;ENSP00000370767:R94S	ENSP00000304044:R94S	R	-	1	0	GP2	20242894	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.677000	0.74503	2.596000	0.87737	0.655000	0.94253	CGC		0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53.0	54.0	53.0					17																	7578442		2203	4300	6503	7519167	SO:0001583	missense	7157	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;	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	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	CCDS11118.1	SNP	57	Broad	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
KRT33A	3883	broad.mit.edu	37	17	39503197	39503198	+	Missense_Mutation	DNP	CC	CC	AG	rs528566588		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr17:39503197_39503198CC>AG	ENST00000007735.3	-	5	818_819	c.774_775GG>CT	c.(772-777)gtGGta>gtCTta	p.V259L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	259	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.V259L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGGATACCACCTGCTTGT	0.634																																																1	Substitution - Missense(1)	ovary(1)	17																																								36756724	SO:0001583	missense	3883			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.774_775delinsAG	17.37:g.39503197_39503198delinsAG	ENSP00000007735:p.Val259Leu		36756723	B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	DNP	ENST00000007735.3	37	CCDS11388.1	DNP	18	Broad																																																																																				0.634	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		Missense_Mutation
HSF5	124535	broad.mit.edu	37	17	56557477	56557477	+	Silent	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr17:56557477G>A	ENST00000323777.3	-	2	811	c.702C>T	c.(700-702)tcC>tcT	p.S234S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	234					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S234S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTCCAAGGGAGTTCTGCC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	17											147.0	137.0	140.0					17																	56557477		2203	4300	6503	53912476	SO:0001819	synonymous_variant	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.702C>T	17.37:g.56557477G>A			53912476	Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	CCDS32690.1	SNP	43	Broad																																																																																				0.473	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		Silent
JMJD6	23210	broad.mit.edu	37	17	74721882	74721882	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr17:74721882C>A	ENST00000397625.4	-	2	299	c.185G>T	c.(184-186)cGg>cTg	p.R62L	METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.R62L|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.R62L|METTL23_ENST00000590964.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	62					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R62L(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCTTTCATACCGCTCCACAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	17											83.0	79.0	80.0					17																	74721882		1864	4105	5969	72233477	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.185G>T	17.37:g.74721882C>A	ENSP00000380750:p.Arg62Leu		72233477	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134521	0.56828	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.72167	-0.63;-0.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.68593	2.085	0.80722	D	1	B;P;P	0.41366	0.057;0.707;0.747	B;B;B	0.30251	0.018;0.029;0.113	T	0.71384	-0.4609	10	0.44086	T	0.13	-22.3201	19.7276	0.96170	0.0:1.0:0.0:0.0	.	62;62;62	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	L	62	ENSP00000394085:R62L;ENSP00000380750:R62L	ENSP00000302916:R62L	R	-	2	0	JMJD6	72233477	1.000000	0.71417	0.915000	0.36163	0.393000	0.30537	4.945000	0.63568	2.649000	0.89929	0.555000	0.69702	CGG		0.443	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		Missense_Mutation
ASXL3	80816	broad.mit.edu	37	18	31318455	31318455	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr18:31318455G>A	ENST00000269197.5	+	11	1087	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G70S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTACAGGCTGGGCATGTCAAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											50.0	49.0	50.0					18																	31318455		1881	4119	6000	29572453	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1087G>A	18.37:g.31318455G>A	ENSP00000269197:p.Gly363Ser		29572453	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072986	0.76415	.	.	ENSG00000141431	ENST00000269197	T	0.19669	2.13	5.01	5.01	0.66863	.	0.956717	0.08648	N	0.914389	T	0.49474	0.1559	M	0.63843	1.955	0.51233	D	0.999917	D	0.89917	1.0	D	0.97110	1.0	T	0.29397	-1.0013	10	0.52906	T	0.07	.	18.6879	0.91571	0.0:0.0:1.0:0.0	.	363	Q9C0F0	ASXL3_HUMAN	S	363	ENSP00000269197:G363S	ENSP00000269197:G363S	G	+	1	0	ASXL3	29572453	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.132000	0.89603	2.490000	0.84030	0.591000	0.81541	GGC		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			Missense_Mutation
RAVER1	125950	broad.mit.edu	37	19	10434238	10434238	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr19:10434238G>A	ENST00000293677.6	-	4	893	c.812C>T	c.(811-813)gCg>gTg	p.A271V	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A254V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CTGGCCGCACGCCAGCTGCCG	0.647																																																1	Substitution - Missense(1)	ovary(1)	19											23.0	26.0	25.0					19																	10434238		2186	4272	6458	10295238	SO:0001583	missense	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.812C>T	19.37:g.10434238G>A	ENSP00000293677:p.Ala271Val		10295238	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	CCDS45960.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150476	0.78001	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.06528	3.29	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.09291	0.0229	L	0.57536	1.79	0.58432	D	0.99999	P	0.50528	0.936	B	0.41036	0.346	T	0.19063	-1.0317	10	0.35671	T	0.21	-15.496	15.2162	0.73267	0.0:0.0:1.0:0.0	.	271	E9PAU2	.	V	271;254	ENSP00000293677:A271V	ENSP00000293677:A271V	A	-	2	0	RAVER1	10295238	1.000000	0.71417	0.970000	0.41538	0.523000	0.34469	9.236000	0.95360	2.199000	0.70637	0.511000	0.50034	GCG		0.647	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		Missense_Mutation
PTPRH	5794	broad.mit.edu	37	19	55710054	55710054	+	Silent	SNP	C	C	T	rs574069561		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr19:55710054C>T	ENST00000376350.3	-	8	1669	c.1647G>A	c.(1645-1647)agG>agA	p.R549R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.R371R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	549	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R549R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGACCTCATTCCTCTCGGCCC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20464	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	19											148.0	122.0	131.0					19																	55710054		2203	4300	6503	60401866	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1647G>A	19.37:g.55710054C>T			60401866	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1	SNP	30	Broad																																																																																				0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			Silent
COMMD1	150684	broad.mit.edu	37	2	62132989	62132989	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr2:62132989T>A	ENST00000311832.5	+	1	208	c.176T>A	c.(175-177)cTt>cAt	p.L59H	COMMD1_ENST00000538736.1_Missense_Mutation_p.L59H|COMMD1_ENST00000472729.1_Intron	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	59					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.L59H(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGGGGGATTCTTAAGGTACTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											49.0	47.0	48.0					2																	62132989		2203	4300	6503	61986493	SO:0001583	missense	150684			BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.176T>A	2.37:g.62132989T>A	ENSP00000308236:p.Leu59His		61986493	B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	CCDS1869.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306826	0.81247	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.14391	2.51;2.51	5.78	5.78	0.91487	.	0.067802	0.64402	D	0.000009	T	0.34106	0.0886	M	0.63843	1.955	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.04242	-1.0966	10	0.87932	D	0	.	12.5057	0.55979	0.0:0.0:0.0:1.0	.	59	Q8N668	COMD1_HUMAN	H	59	ENSP00000308236:L59H;ENSP00000438961:L59H	ENSP00000308236:L59H	L	+	2	0	COMMD1	61986493	0.998000	0.40836	1.000000	0.80357	0.940000	0.58332	2.784000	0.47774	2.220000	0.72140	0.533000	0.62120	CTT		0.597	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		Missense_Mutation
SAP130	79595	broad.mit.edu	37	2	128712911	128712911	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr2:128712911G>T	ENST00000259235.3	-	15	2173	c.2044C>A	c.(2044-2046)Ccc>Acc	p.P682T	SAP130_ENST00000259234.6_Missense_Mutation_p.P690T|SAP130_ENST00000357702.5_Missense_Mutation_p.P717T	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	682					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.P682T(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCAGACTTGGGTTTGGCACTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											66.0	72.0	70.0					2																	128712911		2203	4300	6503	128429381	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2044C>A	2.37:g.128712911G>T	ENSP00000259235:p.Pro682Thr		128429381	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699878	0.68501	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	L	0.32530	0.975	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.971;0.971;0.957;0.801	D;P;P;P;P	0.91635	0.999;0.776;0.701;0.708;0.507	T	0.65166	-0.6234	9	0.34782	T	0.22	-8.4484	19.4001	0.94625	0.0:0.0:1.0:0.0	.	717;690;682;247;319	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	T	717;682;690	.	ENSP00000259234:P690T	P	-	1	0	SAP130	128429381	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.832000	0.69337	2.583000	0.87209	0.632000	0.83419	CCC		0.418	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		Missense_Mutation
ARHGEF4	50649	broad.mit.edu	37	2	131785558	131785558	+	Silent	SNP	C	C	T	rs141451411	byFrequency	TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr2:131785558C>T	ENST00000326016.5	+	5	987	c.468C>T	c.(466-468)gaC>gaT	p.D156D	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000392953.3_Silent_p.D156D|ARHGEF4_ENST00000409303.1_Silent_p.D156D|ARHGEF4_ENST00000525839.1_Silent_p.D156D|ARHGEF4_ENST00000355771.3_Silent_p.D85D	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	156					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D156D(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCTGCGCTGACGAAGTGGGGA	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19740	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	2						C	,	17,4389	24.3+/-50.5	0,17,2186	49.0	44.0	46.0		468,468	-9.9	0.0	2	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARHGEF4	NM_015320.2,NM_032995.1	,	0,18,6485	TT,TC,CC		0.0116,0.3858,0.1384	,	156/691,156/671	131785558	18,12988	2203	4300	6503	131502028	SO:0001819	synonymous_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.468C>T	2.37:g.131785558C>T			131502028	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1	SNP	19	Broad																																																																																				0.627	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			Silent
DOCK10	55619	broad.mit.edu	37	2	225639745	225639745	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr2:225639745G>A	ENST00000258390.7	-	52	5957	c.5890C>T	c.(5890-5892)Cgg>Tgg	p.R1964W	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1958W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1964	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R471W(1)|p.R1962W(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTCTTCCGGTCTTCGATT	0.512																																																2	Substitution - Missense(2)	ovary(2)	2											88.0	91.0	90.0					2																	225639745		2013	4202	6215	225347989	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5890C>T	2.37:g.225639745G>A	ENSP00000258390:p.Arg1964Trp		225347989	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	SNP	39	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.614736|3.614736	0.66672|0.66672	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.25414	.|1.8;1.8	5.48|5.48	3.63|3.63	0.41609|0.41609	.|.	.|0.056199	.|0.64402	.|D	.|0.000001	T|T	0.55986|0.55986	0.1955|0.1955	M|M	0.89287|0.89287	3.02|3.02	0.49687|0.49687	D|D	0.999819|0.999819	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.81914	.|0.967;0.945;0.995	T|T	0.64786|0.64786	-0.6325|-0.6325	5|10	.|0.87932	.|D	.|0	.|.	13.6755|13.6755	0.62451|0.62451	0.0:0.0:0.5937:0.4063|0.0:0.0:0.5937:0.4063	.|.	.|1964;1958;626	.|Q96BY6;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.	L|W	113|1958;1964;471	.|ENSP00000386694:R1958W;ENSP00000258390:R1964W	.|ENSP00000258390:R1964W	P|R	-|-	2|1	0|2	DOCK10|DOCK10	225347989|225347989	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.777000|0.777000	0.43975|0.43975	1.414000|1.414000	0.34736|0.34736	0.750000|0.750000	0.32877|0.32877	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.512	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			Missense_Mutation
NGEF	25791	broad.mit.edu	37	2	233752756	233752756	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr2:233752756T>C	ENST00000264051.3	-	9	1612	c.1334A>G	c.(1333-1335)aAg>aGg	p.K445R	NGEF_ENST00000539537.1_Missense_Mutation_p.K168R|NGEF_ENST00000373552.4_Missense_Mutation_p.K353R	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	445	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K445R(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCCAGCTCCTTGTGAGCATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											173.0	145.0	154.0					2																	233752756		2203	4300	6503	233461000	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1334A>G	2.37:g.233752756T>C	ENSP00000264051:p.Lys445Arg		233461000	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	SNP	56	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	9.898|9.898	1.206093|1.206093	0.22205|0.22205	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114|ENST00000424488	T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13|.	5.21|5.21	-2.83|-2.83	0.05769|0.05769	Dbl homology (DH) domain (5);|.	0.417418|.	0.27531|.	N|.	0.018945|.	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.33485|0.33485	1.01|1.01	0.20403|0.20403	N|N	0.999901|0.999901	B;B|.	0.12013|.	0.005;0.002|.	B;B|.	0.15052|.	0.012;0.011|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.29301|.	T|.	0.29|.	-17.1457|-17.1457	11.7917|11.7917	0.52073|0.52073	0.0:0.4609:0.0:0.5391|0.0:0.4609:0.0:0.5391	.|.	353;445|.	E9PC42;Q8N5V2|.	.;NGEF_HUMAN|.	R|G	445;353;335;168;168|37	ENSP00000264051:K445R;ENSP00000362653:K353R;ENSP00000439035:K168R;ENSP00000401063:K168R|.	ENSP00000264051:K445R|.	K|R	-|-	2|1	0|2	NGEF|NGEF	233461000|233461000	0.274000|0.274000	0.24191|0.24191	0.229000|0.229000	0.23960|0.23960	0.842000|0.842000	0.47809|0.47809	0.722000|0.722000	0.25925|0.25925	-0.425000|-0.425000	0.07371|0.07371	-0.402000|-0.402000	0.06365|0.06365	AAG|AGG		0.512	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		Missense_Mutation
DOCK3	1795	broad.mit.edu	37	3	51399377	51399377	+	Silent	SNP	G	G	C			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr3:51399377G>C	ENST00000266037.9	+	48	5117	c.5094G>C	c.(5092-5094)ctG>ctC	p.L1698L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1698					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L1698L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGTGATGCTGGGTGACGGCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	3											90.0	94.0	92.0					3																	51399377		2159	4255	6414	51374417	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5094G>C	3.37:g.51399377G>C			51374417	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1	SNP	47	Broad																																																																																				0.572	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		Silent
MME	4311	broad.mit.edu	37	3	154832894	154832894	+	Missense_Mutation	SNP	G	G	T	rs574482291		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr3:154832894G>T	ENST00000460393.1	+	4	428	c.308G>T	c.(307-309)cGt>cTt	p.R103L	MME_ENST00000477669.1_3'UTR|MME_ENST00000492661.1_Missense_Mutation_p.R103L|MME_ENST00000493237.1_Missense_Mutation_p.R103L|MME_ENST00000360490.2_Missense_Mutation_p.R103L|MME_ENST00000462745.1_Missense_Mutation_p.R103L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	103					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R103L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACCAGCTCCCGTTACGGCAAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											124.0	116.0	119.0					3																	154832894		2203	4300	6503	156315588	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.308G>T	3.37:g.154832894G>T	ENSP00000418525:p.Arg103Leu		156315588	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057625	0.55325	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000462837	T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.6	5.6	0.85130	Peptidase M13 (1);	0.276672	0.36778	N	0.002413	T	0.74869	0.3773	M	0.69358	2.11	0.46376	D	0.999015	B	0.31318	0.319	B	0.35770	0.21	T	0.74985	-0.3477	10	0.52906	T	0.07	-14.3204	14.4499	0.67376	0.0:0.0:0.8529:0.1471	.	103	P08473	NEP_HUMAN	L	103	ENSP00000420389:R103L;ENSP00000418525:R103L;ENSP00000420101:R103L;ENSP00000419653:R103L;ENSP00000417079:R103L;ENSP00000353679:R103L;ENSP00000418791:R103L;ENSP00000417595:R103L	ENSP00000353679:R103L	R	+	2	0	MME	156315588	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	4.500000	0.60387	2.648000	0.89879	0.655000	0.94253	CGT		0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		Missense_Mutation
RAI14	26064	broad.mit.edu	37	5	34824277	34824277	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr5:34824277C>T	ENST00000265109.3	+	15	2617	c.2330C>T	c.(2329-2331)gCt>gTt	p.A777V	RAI14_ENST00000503673.1_Missense_Mutation_p.A777V|RAI14_ENST00000397449.1_Missense_Mutation_p.A770V|RAI14_ENST00000515799.1_Missense_Mutation_p.A780V|RAI14_ENST00000512629.1_Missense_Mutation_p.A748V|RAI14_ENST00000506376.1_Missense_Mutation_p.A769V|RAI14_ENST00000428746.2_Missense_Mutation_p.A777V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	777						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A777V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAGAGAAAGCTGCTATGACT	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											112.0	111.0	112.0					5																	34824277		2203	4300	6503	34860034	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2330C>T	5.37:g.34824277C>T	ENSP00000265109:p.Ala777Val		34860034	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244920	0.39697	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37752	1.22;1.18;1.22;1.22;1.22;1.26;1.25	5.4	5.4	0.78164	.	.	.	.	.	T	0.43523	0.1251	L	0.29908	0.895	0.38964	D	0.95861	D;D;D;D	0.63880	0.986;0.991;0.978;0.993	P;P;P;P	0.58620	0.795;0.793;0.741;0.842	T	0.39663	-0.9603	9	0.51188	T	0.08	-12.7952	14.8562	0.70338	0.1443:0.8557:0.0:0.0	.	769;748;780;777	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	777;748;777;777;780;769;770	ENSP00000265109:A777V;ENSP00000422377:A748V;ENSP00000388725:A777V;ENSP00000422942:A777V;ENSP00000427123:A780V;ENSP00000423854:A769V;ENSP00000380591:A770V	ENSP00000265109:A777V	A	+	2	0	RAI14	34860034	0.996000	0.38824	0.950000	0.38849	0.306000	0.27790	3.355000	0.52262	2.533000	0.85409	0.555000	0.69702	GCT		0.408	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		Missense_Mutation
HIST1H2BH	8345	broad.mit.edu	37	6	26251883	26251883	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr6:26251883C>T	ENST00000356350.2	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	2					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2L(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTTGCAATGCCTGATCCAGCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											71.0	62.0	65.0					6																	26251883		2203	4300	6503	26359862	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.5C>T	6.37:g.26251883C>T	ENSP00000348706:p.Pro2Leu		26359862	B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	CCDS4601.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	.	15.75	2.924486	0.52653	.	.	ENSG00000197459	ENST00000356350	T	0.19250	2.16	4.74	4.74	0.60224	.	.	.	.	.	T	0.24044	0.0582	M	0.90369	3.11	0.51767	D	0.999935	B	0.25048	0.117	B	0.12837	0.008	T	0.24476	-1.0159	9	0.87932	D	0	.	17.5947	0.88007	0.0:1.0:0.0:0.0	.	2	Q93079	H2B1H_HUMAN	L	2	ENSP00000348706:P2L	ENSP00000348706:P2L	P	+	2	0	HIST1H2BH	26359862	1.000000	0.71417	0.920000	0.36463	0.014000	0.08584	7.481000	0.81124	2.561000	0.86390	0.655000	0.94253	CCT		0.512	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		Missense_Mutation
USP49	25862	broad.mit.edu	37	6	41774277	41774277	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr6:41774277G>A	ENST00000394253.3	-	3	774	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	USP49_ENST00000373010.1_Missense_Mutation_p.R149C|USP49_ENST00000373006.1_Missense_Mutation_p.R149C|USP49_ENST00000297229.2_Missense_Mutation_p.R149C|USP49_ENST00000373009.3_Missense_Mutation_p.R149C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	149					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R149C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCAGCAGGCGCTGACGCCGG	0.701																																																1	Substitution - Missense(1)	ovary(1)	6											12.0	14.0	13.0					6																	41774277		2190	4276	6466	41882255	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.445C>T	6.37:g.41774277G>A	ENSP00000377797:p.Arg149Cys		41882255	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254602	0.22965	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06768	3.74;3.26;3.74;3.52;3.52	4.33	2.35	0.29111	.	0.404141	0.27896	N	0.017420	T	0.00906	0.0030	N	0.02011	-0.69	0.41917	D	0.990497	B	0.13145	0.007	B	0.13407	0.009	T	0.40365	-0.9567	10	0.36615	T	0.2	-16.6087	2.7543	0.05288	0.3371:0.247:0.4158:0.0	.	149	Q70CQ1-2	.	C	149	ENSP00000377797:R149C;ENSP00000362101:R149C;ENSP00000362100:R149C;ENSP00000362097:R149C;ENSP00000297229:R149C	ENSP00000297229:R149C	R	-	1	0	USP49	41882255	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.691000	0.25467	1.020000	0.39573	0.563000	0.77884	CGC		0.701	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		Missense_Mutation
AARS2	57505	broad.mit.edu	37	6	44272925	44272925	+	Missense_Mutation	SNP	C	C	T	rs368303351		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr6:44272925C>T	ENST00000244571.4	-	11	1447	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCAGCCTGCCGTGCCCGGTG	0.612											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			6											72.0	60.0	64.0					6																	44272925		2203	4300	6503	44380903	SO:0001583	missense	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1445G>A	6.37:g.44272925C>T	ENSP00000244571:p.Arg482Gln	922	44380903		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	0.089	-1.170381	0.01660	.	.	ENSG00000124608	ENST00000244571	T	0.73575	-0.76	5.29	-4.2	0.03823	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	1.003390	0.08022	N	0.992101	T	0.22205	0.0535	N	0.17901	0.54	0.21604	N	0.999624	B	0.09022	0.002	B	0.04013	0.001	T	0.10613	-1.0622	10	0.06236	T	0.91	-4.5185	2.4736	0.04570	0.0956:0.2892:0.1789:0.4363	.	482	Q5JTZ9	SYAM_HUMAN	Q	482	ENSP00000244571:R482Q	ENSP00000244571:R482Q	R	-	2	0	AARS2	44380903	0.025000	0.19082	0.181000	0.23098	0.157000	0.22087	-0.541000	0.06099	-0.592000	0.05851	-0.320000	0.08662	CGG		0.612	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		Missense_Mutation
SOGA3	387104	broad.mit.edu	37	6	127797197	127797197	+	Silent	SNP	C	C	G			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr6:127797197C>G	ENST00000525778.1	-	6	2719	c.1974G>C	c.(1972-1974)ctG>ctC	p.L658L	SOGA3_ENST00000368268.2_Silent_p.L658L|SOGA3_ENST00000556132.1_Silent_p.L658L|SOGA3_ENST00000465909.2_Silent_p.L658L|SOGA3_ENST00000481848.2_Silent_p.L658L|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	658					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L658L(1)									TCCTCCGCAGCAGCTCCGTCT	0.642																																																1	Substitution - coding silent(1)	ovary(1)	6											51.0	57.0	55.0					6																	127797197		2187	4288	6475	127838890	SO:0001819	synonymous_variant	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1974G>C	6.37:g.127797197C>G			127838890		Silent	SNP	ENST00000525778.1	37	CCDS43505.1	SNP	25	Broad																																																																																				0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		Silent
SDK1	221935	broad.mit.edu	37	7	4116655	4116655	+	Silent	SNP	C	C	T	rs373825888		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr7:4116655C>T	ENST00000404826.2	+	21	3175	c.3036C>T	c.(3034-3036)taC>taT	p.Y1012Y	SDK1_ENST00000389531.3_Silent_p.Y1012Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1012	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y1012Y(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGAAGTGTACGGCAGGAACG	0.552																																																1	Substitution - coding silent(1)	ovary(1)	7						C		0,4406		0,0,2203	140.0	108.0	119.0		3036	-6.2	0.1	7		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1012/2214	4116655	1,13005	2203	4300	6503	4083181	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3036C>T	7.37:g.4116655C>T			4083181	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1	SNP	19	Broad																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		Silent
OPN1SW	611	broad.mit.edu	37	7	128415815	128415815	+	Nonsense_Mutation	SNP	A	A	T	rs374350361		TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr7:128415815A>T	ENST00000249389.2	-	1	29	c.30T>A	c.(28-30)taT>taA	p.Y10*		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	10					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTTTGAACAGATAAAACTCTT	0.527																																																0			7											47.0	51.0	50.0					7																	128415815		2203	4300	6503	128203051	SO:0001587	stop_gained	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.30T>A	7.37:g.128415815A>T	ENSP00000249389:p.Tyr10*		128203051	Q13877	Nonsense_Mutation	SNP	ENST00000249389.2	37	CCDS5806.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669061	0.47677	.	.	ENSG00000128617	ENST00000249389	.	.	.	5.0	-0.0804	0.13707	.	0.771864	0.12337	N	0.477834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7148	0.34405	0.5233:0.0:0.4767:0.0	.	.	.	.	X	10	.	ENSP00000249389:Y10X	Y	-	3	2	OPN1SW	128203051	0.985000	0.35326	0.481000	0.27354	0.184000	0.23303	1.293000	0.33353	0.085000	0.17107	0.459000	0.35465	TAT		0.527	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		Nonsense_Mutation
AKR1B1	231	broad.mit.edu	37	7	134135551	134135551	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr7:134135551G>A	ENST00000285930.4	-	3	417	c.338C>T	c.(337-339)cCg>cTg	p.P113L	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	113					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.P113L(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	AAAGCCAGTCGGCCAGTGAAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											104.0	75.0	85.0					7																	134135551		2203	4300	6503	133786091	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.338C>T	7.37:g.134135551G>A	ENSP00000285930:p.Pro113Leu		133786091	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306288	0.81247	.	.	ENSG00000085662	ENST00000285930	T	0.14893	2.47	4.79	4.79	0.61399	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	H	0.98786	4.33	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.79448	-0.1799	10	0.87932	D	0	.	17.2042	0.86914	0.0:0.0:1.0:0.0	.	113	P15121	ALDR_HUMAN	L	113	ENSP00000285930:P113L	ENSP00000285930:P113L	P	-	2	0	AKR1B1	133786091	1.000000	0.71417	0.940000	0.37924	0.801000	0.45260	9.869000	0.99810	2.367000	0.80283	0.561000	0.74099	CCG		0.557	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		Missense_Mutation
CSMD3	114788	broad.mit.edu	37	8	113662469	113662470	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr8:113662469_113662470TG>AT	ENST00000297405.5	-	19	3357_3358	c.3113_3114CA>AT	c.(3112-3114)tCA>tAT	p.S1038Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S998Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1038Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S934Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1038	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1038Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTGTATCCTGAATCACAACT	0.446										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8																																								113731646	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3113_3114delinsAT	8.37:g.113662469_113662470delinsAT	ENSP00000297405:p.Ser1038Tyr		113731645	Q96PZ3	Missense_Mutation	DNP	ENST00000297405.5	37	CCDS6315.1	DNP	55	Broad																																																																																				0.446	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		Missense_Mutation
MYC	4609	broad.mit.edu	37	8	128751156	128751156	+	Silent	SNP	C	C	T			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chr8:128751156C>T	ENST00000259523.6	+	2	1853	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MYC_ENST00000524013.1_Silent_p.F230F|MYC_ENST00000377970.2_Silent_p.F231F			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	216					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F216F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CCAGCGCCTTCTCTCCGTCCT	0.672		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	1	Substitution - coding silent(1)	ovary(1)	8											39.0	36.0	37.0					8																	128751156		2066	4118	6184	128820338	SO:0001819	synonymous_variant	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.648C>T	8.37:g.128751156C>T			128820338	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37		SNP	32	Broad																																																																																				0.672	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			Silent
DGKK	139189	broad.mit.edu	37	X	50122709	50122709	+	RNA	SNP	C	C	G			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chrX:50122709C>G	ENST00000376025.2	-	0	2837							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L722F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCAGGTTTGGCAAGGAGATGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											148.0	124.0	132.0					X																	50122709		1918	4129	6047	50139449			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122709C>G			50139449	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37		SNP	25	Broad																																																																																				0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		Missense_Mutation
MAGED1	9500	broad.mit.edu	37	X	51639636	51639636	+	Silent	SNP	C	C	G			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chrX:51639636C>G	ENST00000375722.1	+	4	1137	c.885C>G	c.(883-885)ctC>ctG	p.L295L	MAGED1_ENST00000326587.7_Silent_p.L295L|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.L351L|MAGED1_ENST00000375772.3_Silent_p.L295L			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	295	Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.L351L(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCAATGTGCTCTGGCAGACGC	0.652										Multiple Myeloma(10;0.10)																																						1	Substitution - coding silent(1)	ovary(1)	X											39.0	36.0	37.0					X																	51639636		2203	4300	6503	51656376	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.885C>G	X.37:g.51639636C>G			51656376	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1	SNP	32	Broad																																																																																				0.652	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		Silent
ZDHHC15	158866	broad.mit.edu	37	X	74649787	74649787	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2261-01	TCGA-24-2261-11	g.chrX:74649787G>A	ENST00000373367.3	-	6	708	c.478C>T	c.(478-480)Cct>Tct	p.P160S	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P151S|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.P160S	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	160					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P160S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ACATACCAAGGGCAGTGATGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											159.0	119.0	133.0					X																	74649787		2203	4300	6503	74566512	SO:0001583	missense	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.478C>T	X.37:g.74649787G>A	ENSP00000362465:p.Pro160Ser		74566512	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545275	0.86022	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.27104	1.69;1.69;1.69	5.52	5.52	0.82312	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	H	0.95004	3.61	0.80722	D	1	D;D	0.61080	0.989;0.988	D;P	0.66602	0.945;0.893	T	0.74876	-0.3515	10	0.87932	D	0	.	17.2818	0.87130	0.0:0.0:1.0:0.0	.	151;160	B3KVG7;Q96MV8	.;ZDH15_HUMAN	S	160;151;160	ENSP00000362465:P160S;ENSP00000445420:P151S;ENSP00000362459:P160S	ENSP00000362459:P160S	P	-	1	0	ZDHHC15	74566512	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.257000	0.95545	2.293000	0.77203	0.600000	0.82982	CCT		0.388	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		Missense_Mutation
PACS1	55690	broad.mit.edu	37	11	65984242	65984254	+	Splice_Site	DEL	CAAGGGTGAGCCT	CAAGGGTGAGCCT	-	rs139704583|rs374187874	byFrequency	TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-2261-01	TCGA-24-2261-11	g.chr11:65984242_65984254delCAAGGGTGAGCCT	ENST00000320580.4	+	7	1007_1011	c.974_978delCAAGGGTGAGCCT	c.(973-978)acaagg>a	p.TR325fs		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	325					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.?(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCTGCCATCACAAGGGTGAGCCTCAAAGGTCTG	0.498																																																1	Unknown(1)	ovary(1)	11																																								65740830	SO:0001630	splice_region_variant	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.978+1CAAGGGTGAGCCT>-	11.37:g.65984242_65984254delCAAGGGTGAGCCT			65740818	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Splice_Site_Del	DEL	ENST00000320580.4	37	CCDS8129.1	DEL	17	Broad																																																																																				0.498	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	Frame_Shift_Del	Splice_Site_Del
LRWD1	222229	broad.mit.edu	37	7	102106497	102106510	+	Splice_Site	DEL	CGGTAAGTGGGAGC	CGGTAAGTGGGAGC	-			TCGA-24-2261-01	TCGA-24-2261-11							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-2261-01	TCGA-24-2261-11	g.chr7:102106497_102106510delCGGTAAGTGGGAGC	ENST00000292616.5	+	2	466_467	c.314_315delCGGTAAGTGGGAGC	c.(313-315)acg>a	p.T105fs	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	105					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCTTCCTGACGGTAAGTGGGAGCCTCCCACCAG	0.607																																																1	Unknown(1)	ovary(1)	7																																								101893515	SO:0001630	splice_region_variant	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.315+1CGGTAAGTGGGAGC>-	7.37:g.102106497_102106510delCGGTAAGTGGGAGC			101893502	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Splice_Site_Del	DEL	ENST00000292616.5	37	CCDS34715.1	DEL	19	Broad																																																																																				0.607	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	Frame_Shift_Del	Splice_Site_Del
