#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ZNF644	84146	broad.mit.edu	37	1	91406315	91406316	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr1:91406315_91406316GA>TT	ENST00000370440.1	-	3	812_813	c.595_596TC>AA	c.(595-597)TCa>AAa	p.S199K	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S199K|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	199					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.S199K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAACCAACTGAAGCAGAGGTA	0.376																																																1	Substitution - Missense(1)	ovary(1)	1																																								91178904	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.595_596delinsTT	1.37:g.91406315_91406316delinsTT	ENSP00000359469:p.Ser199Lys	Unknown		x	x	x	91178903	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	DNP	ENST00000370440.1	37	CCDS731.1	DNP	45	Broad																																																																																				0.376	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		Missense_Mutation
HMCN1	83872	broad.mit.edu	37	1	186059939	186059939	+	Silent	SNP	T	T	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr1:186059939T>C	ENST00000271588.4	+	64	10006	c.9777T>C	c.(9775-9777)ctT>ctC	p.L3259L	HMCN1_ENST00000367492.2_Silent_p.L3259L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3259	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L3259L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGTGTCCTTCTAGGAGAAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											131.0	126.0	128.0					1																	186059939		2203	4300	6503	184326562	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9777T>C	1.37:g.186059939T>C		Unknown		x	x	x	184326562	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1	SNP	62	Broad																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		Silent
TP53BP2	7159	broad.mit.edu	37	1	223986086	223986086	+	Silent	SNP	G	G	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr1:223986086G>A	ENST00000343537.7	-	12	2070	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Silent_p.P464P|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	587					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.P464P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGAAGGCTGGGGAGTAAAGG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											127.0	137.0	133.0					1																	223986086		2203	4300	6503	222052709	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1779C>T	1.37:g.223986086G>A		Unknown		x	x	x	222052709	B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1	SNP	43	Broad																																																																																				0.532	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		Silent
VN1R5	317705	broad.mit.edu	37	1	247420071	247420071	+	IGR	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr1:247420071C>T								RP11-488L18.8 (14946 upstream) : Y_RNA (38065 downstream)																							GTTCATGGTCCTCTCAAGAGG	0.458																																																0			1											165.0	158.0	160.0					1																	247420071		1909	4127	6036	245486694	SO:0001628	intergenic_variant	317705																															1.37:g.247420071C>T		Unknown		x	x	x	245486694		Missense_Mutation	SNP		37		SNP	24	Broad																																																																																			0	0.458									Missense_Mutation
NUDT5	11164	broad.mit.edu	37	10	12212901	12212901	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr10:12212901C>A	ENST00000491614.1	-	8	889	c.494G>T	c.(493-495)gGa>gTa	p.G165V	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.G178V|NUDT5_ENST00000378927.3_Missense_Mutation_p.G165V|NUDT5_ENST00000537776.1_Missense_Mutation_p.G165V|NUDT5_ENST00000378940.3_Missense_Mutation_p.G165V			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	165	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)	p.G165V(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAACATACCTCCATCCCCTGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											128.0	112.0	117.0					10																	12212901		2203	4300	6503	12252907	SO:0001583	missense	11164			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.494G>T	10.37:g.12212901C>A	ENSP00000419628:p.Gly165Val	Unknown		x	x	x	12252907	A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	CCDS7089.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415643	0.62511	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.53206	0.79;0.79;0.79;0.79;0.63	5.6	5.6	0.85130	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.103078	0.64402	D	0.000003	T	0.72244	0.3436	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.77560	-0.2542	10	0.87932	D	0	-22.1945	13.9273	0.63970	0.0:0.9248:0.0:0.0752	.	165	Q9UKK9	NUDT5_HUMAN	V	165;165;178;165;165;165	ENSP00000419628:G165V;ENSP00000368219:G178V;ENSP00000445116:G165V;ENSP00000368222:G165V;ENSP00000368209:G165V	ENSP00000368209:G165V	G	-	2	0	NUDT5	12252907	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	3.103000	0.50298	2.629000	0.89072	0.563000	0.77884	GGA		0.458	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			Missense_Mutation
HNRNPH3	3189	broad.mit.edu	37	10	70105770	70105770	+	IGR	SNP	C	C	G			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr10:70105770C>G	ENST00000265866.7	+	0	2339				RUFY2_ENST00000602465.1_Missense_Mutation_p.K557N|RUFY2_ENST00000388768.2_Missense_Mutation_p.K592N|RUFY2_ENST00000265865.3_Missense_Mutation_p.K147N	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K592N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TTACCTTTCTCTTAGAGAGTG	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											101.0	91.0	94.0					10																	70105770		1816	4068	5884	69775776	SO:0001628	intergenic_variant	55680				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349		10.37:g.70105770C>G		Unknown		x	x	x	69775776	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	CCDS7278.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681103	0.47886	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	T;T	0.71934	-0.61;-0.61	5.93	1.82	0.25136	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.050787	0.85682	D	0.000000	T	0.47783	0.1464	N	0.13235	0.315	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.004;0.005	T	0.21999	-1.0229	10	0.39692	T	0.17	.	5.6733	0.17735	0.1289:0.3794:0.0:0.4917	.	592;606	Q8WXA3-3;Q8WXA3	.;RUFY2_HUMAN	N	592;147	ENSP00000373420:K592N;ENSP00000265865:K147N	ENSP00000265865:K147N	K	-	3	2	RUFY2	69775776	0.937000	0.31787	0.999000	0.59377	0.995000	0.86356	0.022000	0.13511	0.339000	0.23719	0.655000	0.94253	AAG		0.323	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			Missense_Mutation
LRRC55	219527	broad.mit.edu	37	11	56949889	56949889	+	Silent	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr11:56949889C>T	ENST00000497933.1	+	1	669	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	144					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D174D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCCAGCCGACATGTTCCAGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	11											40.0	38.0	39.0					11																	56949889		2201	4296	6497	56706465	SO:0001819	synonymous_variant	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.522C>T	11.37:g.56949889C>T		Unknown		x	x	x	56706465	A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	CCDS31539.1	SNP	17	Broad																																																																																				0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		Silent
FOSL1	8061	broad.mit.edu	37	11	65664476	65664476	+	Splice_Site	SNP	T	T	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr11:65664476T>C	ENST00000312562.2	-	2	287	c.101A>G	c.(100-102)aAg>aGg	p.K34R	FOSL1_ENST00000531493.1_Splice_Site_p.K34R|FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000532401.1_Splice_Site_p.K34R	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	34					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K34R(1)		breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CAGGTGGAACTTCTAAGGAAT	0.547																																																1	Substitution - Missense(1)	ovary(1)	11											61.0	54.0	56.0					11																	65664476		2201	4296	6497	65421052	SO:0001630	splice_region_variant	8061			BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.100-1A>G	11.37:g.65664476T>C		Unknown		x	x	x	65421052	B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	CCDS8121.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588326	0.66105	.	.	ENSG00000175592	ENST00000455710;ENST00000312562;ENST00000531493;ENST00000532401	T;T	0.79033	-1.23;0.98	5.21	5.21	0.72293	.	0.243455	0.40728	N	0.001036	T	0.69061	0.3069	L	0.40543	1.245	0.48341	D	0.999639	B	0.24618	0.107	B	0.18263	0.021	T	0.68356	-0.5430	10	0.59425	D	0.04	-26.0683	11.7988	0.52114	0.0:0.0:0.0:1.0	.	34	P15407	FOSL1_HUMAN	R	34	ENSP00000310170:K34R;ENSP00000431594:K34R	ENSP00000310170:K34R	K	-	2	0	FOSL1	65421052	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	5.456000	0.66665	2.107000	0.64212	0.533000	0.62120	AAG		0.547	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438	Missense_Mutation	Missense_Mutation
SSH3	54961	broad.mit.edu	37	11	67075382	67075382	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr11:67075382G>T	ENST00000308127.4	+	8	1035	c.857G>T	c.(856-858)aGt>aTt	p.S286I	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.S286I	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	286					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S286I(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTGGATGTCAGTGACCTGGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											85.0	82.0	83.0					11																	67075382		2200	4295	6495	66831958	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.857G>T	11.37:g.67075382G>T	ENSP00000312081:p.Ser286Ile	Unknown		x	x	x	66831958	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282403	0.23392	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.18657	3.75;3.79;2.2	4.5	4.5	0.54988	DEK, C-terminal (1);	0.308380	0.28772	N	0.014200	T	0.31606	0.0802	L	0.55481	1.735	0.37721	D	0.924921	D;P	0.63880	0.993;0.621	P;P	0.59889	0.865;0.474	T	0.13980	-1.0489	10	0.41790	T	0.15	-4.3976	6.7839	0.23662	0.0967:0.1811:0.7222:0.0	.	140;286	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	I	286;286;38	ENSP00000312081:S286I;ENSP00000365948:S286I;ENSP00000433902:S38I	ENSP00000312081:S286I	S	+	2	0	SSH3	66831958	0.001000	0.12720	0.926000	0.36857	0.007000	0.05969	1.539000	0.36104	2.241000	0.73720	0.462000	0.41574	AGT		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		Missense_Mutation
CNTN1	1272	broad.mit.edu	37	12	41337526	41337526	+	Splice_Site	SNP	G	G	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr12:41337526G>C	ENST00000551295.2	+	13	1624	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	CNTN1_ENST00000547702.1_Splice_Site_p.D503H|CNTN1_ENST00000348761.2_Splice_Site_p.D492H|CNTN1_ENST00000360099.3_Splice_Site_p.D503H|CNTN1_ENST00000347616.1_Splice_Site_p.D503H|CNTN1_ENST00000547849.1_Splice_Site_p.D503H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	503					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D503H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTTATCACAGGTAAGTTAAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	12											95.0	93.0	94.0					12																	41337526		2203	4299	6502	39623793	SO:0001630	splice_region_variant	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1507+1G>C	12.37:g.41337526G>C		Unknown		x	x	x	39623793	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517958	0.64634	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.13	3.12	0.35913	Immunoglobulin-like fold (1);	0.291159	0.36932	N	0.002332	T	0.47248	0.1435	L	0.58428	1.81	0.37352	D	0.910863	B;D;D	0.71674	0.391;0.998;0.997	P;D;D	0.70016	0.575;0.967;0.928	T	0.52601	-0.8554	10	0.87932	D	0	.	9.8935	0.41304	0.1848:0.0:0.8152:0.0	.	503;492;503	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	H	503;503;503;503;503;492	ENSP00000448004:D503H;ENSP00000447006:D503H;ENSP00000448653:D503H;ENSP00000325660:D503H;ENSP00000353213:D503H;ENSP00000261160:D492H	ENSP00000325660:D503H	D	+	1	0	CNTN1	39623793	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.338000	0.59316	0.539000	0.28788	0.561000	0.74099	GAT		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation	Missense_Mutation
PMEL	6490	broad.mit.edu	37	12	56359772	56359772	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr12:56359772G>C	ENST00000548747.1	-	1	686	c.24C>G	c.(22-24)tgC>tgG	p.C8W	PMEL_ENST00000550447.1_Missense_Mutation_p.C8W|CDK2_ENST00000354056.4_5'Flank|PMEL_ENST00000548689.1_Intron|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000539511.1_Missense_Mutation_p.C8W|PMEL_ENST00000552882.1_Missense_Mutation_p.C8W|PMEL_ENST00000548493.1_Missense_Mutation_p.C8W|CDK2_ENST00000553376.1_5'Flank|CDK2_ENST00000440311.2_5'Flank|PMEL_ENST00000550464.1_Missense_Mutation_p.C8W|PMEL_ENST00000536427.1_Missense_Mutation_p.C8W|CDK2_ENST00000266970.4_5'Flank|PMEL_ENST00000360714.4_Missense_Mutation_p.C8W|PMEL_ENST00000449260.2_Missense_Mutation_p.C8W			P40967	PMEL_HUMAN	premelanosome protein	8					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.C8W(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATGAAGAAGGCATCTTTTTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											304.0	257.0	273.0					12																	56359772		2203	4300	6503	54646039	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.24C>G	12.37:g.56359772G>C	ENSP00000448828:p.Cys8Trp	Unknown		x	x	x	54646039	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	4.969	0.180042	0.09443	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418	T;T;T;T;T;T;T;T;T;T;T	0.32023	3.07;3.07;1.98;3.07;3.07;3.07;2.71;1.98;1.47;2.46;2.95	4.77	2.81	0.32909	.	0.335148	0.26518	N	0.023935	T	0.25975	0.0633	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.12156	0.007;0.007;0.002	T	0.18745	-1.0327	10	0.36615	T	0.2	-0.9428	13.0364	0.58875	0.0:0.3073:0.6927:0.0	.	8;8;8	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	W	8	ENSP00000402758:C8W;ENSP00000449690:C8W;ENSP00000450036:C8W;ENSP00000448828:C8W;ENSP00000447374:C8W;ENSP00000353940:C8W;ENSP00000438695:C8W;ENSP00000445005:C8W;ENSP00000447732:C8W;ENSP00000448849:C8W;ENSP00000446662:C8W	ENSP00000353940:C8W	C	-	3	2	PMEL	54646039	0.023000	0.18921	0.159000	0.22649	0.005000	0.04900	0.214000	0.17541	1.399000	0.46721	-0.336000	0.08194	TGC		0.488	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		Missense_Mutation
PEBP1	5037	broad.mit.edu	37	12	118575880	118575880	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr12:118575880C>G	ENST00000261313.2	+	2	524	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	58						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L58V(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGATGGTCTTGATTCAGG	0.493																																					NSCLC(44;94 1357 12187 49467)											1	Substitution - Missense(1)	ovary(1)	12											61.0	52.0	55.0					12																	118575880		2203	4300	6503	117060263	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.172C>G	12.37:g.118575880C>G	ENSP00000261313:p.Leu58Val	Unknown		x	x	x	117060263	B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060517	0.19987	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.30182	1.54	4.53	3.55	0.40652	.	0.288557	0.38326	N	0.001723	T	0.14657	0.0354	N	0.17379	0.485	0.25729	N	0.985288	B;B	0.11235	0.004;0.002	B;B	0.17433	0.018;0.004	T	0.06338	-1.0832	10	0.30078	T	0.28	-10.7185	2.4647	0.04550	0.3027:0.5089:0.0:0.1883	.	58;58	B4DRT4;P30086	.;PEBP1_HUMAN	V	58	ENSP00000261313:L58V	ENSP00000261313:L58V	L	+	1	0	PEBP1	117060263	0.994000	0.37717	0.975000	0.42487	0.690000	0.40134	1.783000	0.38664	2.346000	0.79739	0.655000	0.94253	CTT		0.493	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		Missense_Mutation
ATP12A	479	broad.mit.edu	37	13	25264510	25264510	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr13:25264510C>A	ENST00000381946.3	+	6	748	c.581C>A	c.(580-582)aCc>aAc	p.T194N	ATP12A_ENST00000218548.6_Missense_Mutation_p.T194N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	194					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T194N(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAGAAGAAGACCATCCCTTCA	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	ovary(1)	13											118.0	112.0	114.0					13																	25264510		2203	4300	6503	24162510	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.581C>A	13.37:g.25264510C>A	ENSP00000371372:p.Thr194Asn	Unknown		x	x	x	24162510	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	1.927	-0.446812	0.04572	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91686	-2.89;-2.89	4.74	-3.35	0.04928	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.697610	0.03175	N	0.171294	D	0.84074	0.5392	L	0.33189	0.99	0.09310	N	1	B;B	0.24882	0.113;0.091	B;B	0.26310	0.047;0.068	T	0.69018	-0.5256	10	0.21540	T	0.41	.	0.9188	0.01310	0.2022:0.2774:0.1187:0.4017	.	194;194	P54707-2;P54707	.;AT12A_HUMAN	N	194	ENSP00000218548:T194N;ENSP00000371372:T194N	ENSP00000218548:T194N	T	+	2	0	ATP12A	24162510	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.414000	0.21164	-0.379000	0.07906	-1.107000	0.02091	ACC		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		Missense_Mutation
DDHD1	80821	broad.mit.edu	37	14	53570519	53570519	+	Silent	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr14:53570519C>T	ENST00000323669.5	-	2	893	c.894G>A	c.(892-894)caG>caA	p.Q298Q	DDHD1_ENST00000357758.3_Silent_p.Q298Q|DDHD1_ENST00000395606.1_Silent_p.Q298Q	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	298					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q298Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAGAGGCTGCCAAGTGC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	14											75.0	69.0	71.0					14																	53570519		2203	4300	6503	52640269	SO:0001819	synonymous_variant	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.894G>A	14.37:g.53570519C>T		Unknown		x	x	x	52640269	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	CCDS53895.1	SNP	28	Broad																																																																																				0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			Silent
UNC79	57578	broad.mit.edu	37	14	94079195	94079195	+	Silent	SNP	C	C	T	rs567253162		TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr14:94079195C>T	ENST00000393151.2	+	27	3807	c.3807C>T	c.(3805-3807)gaC>gaT	p.D1269D	UNC79_ENST00000256339.4_Silent_p.D1092D|UNC79_ENST00000555664.1_Silent_p.D1269D|UNC79_ENST00000553484.1_Silent_p.D1291D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1269					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1092D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCCAGAAGACGCTGGGATCG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19936	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	14											109.0	98.0	102.0					14																	94079195		2203	4300	6503	93148948	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3807C>T	14.37:g.94079195C>T		Unknown		x	x	x	93148948	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37		SNP	19	Broad																																																																																				0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		Silent
FES	2242	broad.mit.edu	37	15	91428804	91428804	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr15:91428804G>C	ENST00000328850.3	+	3	518	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	FES_ENST00000394300.3_Intron|FES_ENST00000444422.2_Missense_Mutation_p.E126Q|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	126	Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTGCAGCAGGAGCTCACCAA	0.582																																																0			15											18.0	22.0	21.0					15																	91428804		2194	4296	6490	89229808	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.376G>C	15.37:g.91428804G>C	ENSP00000331504:p.Glu126Gln	Unknown		x	x	x	89229808	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	CCDS10365.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624133	0.87560	.	.	ENSG00000182511	ENST00000328850;ENST00000452243;ENST00000444422	T;T;T	0.16196	2.36;2.36;2.36	5.37	5.37	0.77165	.	0.235800	0.43260	D	0.000582	T	0.21631	0.0521	L	0.54323	1.7	0.80722	D	1	P;B;P	0.46706	0.883;0.441;0.883	B;B;B	0.42827	0.399;0.326;0.399	T	0.02404	-1.1164	10	0.20046	T	0.44	-17.8342	18.7804	0.91930	0.0:0.0:1.0:0.0	.	108;126;126	B4DUD9;P07332-4;P07332	.;.;FES_HUMAN	Q	126	ENSP00000331504:E126Q;ENSP00000392696:E126Q;ENSP00000400868:E126Q	ENSP00000331504:E126Q	E	+	1	0	FES	89229808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.295000	0.96095	2.543000	0.85770	0.650000	0.86243	GAG		0.582	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Unknown		x	x	x	7519131	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	27	Broad	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
IKZF3	22806	broad.mit.edu	37	17	37922420	37922420	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr17:37922420C>G	ENST00000346872.3	-	8	1214	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	IKZF3_ENST00000467757.1_Missense_Mutation_p.D329H|IKZF3_ENST00000377945.3_Missense_Mutation_p.D251H|IKZF3_ENST00000377944.3_Missense_Mutation_p.D242H|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000350532.3_Missense_Mutation_p.D346H|IKZF3_ENST00000377958.2_Missense_Mutation_p.D298H|IKZF3_ENST00000535189.1_Missense_Mutation_p.D351H|IKZF3_ENST00000377952.2_Missense_Mutation_p.D164H|IKZF3_ENST00000583368.1_Missense_Mutation_p.D138H|IKZF3_ENST00000439167.2_Missense_Mutation_p.D312H|IKZF3_ENST00000351680.3_Missense_Mutation_p.D346H|IKZF3_ENST00000439016.2_Missense_Mutation_p.D290H|IKZF3_ENST00000394189.2_Missense_Mutation_p.D203H|IKZF3_ENST00000346243.3_Missense_Mutation_p.D307H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	385					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D385H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCGTGGAGTCGTGGCCACTA	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											213.0	189.0	197.0					17																	37922420		2203	4300	6503	35175946	SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1153G>C	17.37:g.37922420C>G	ENSP00000344544:p.Asp385His	Unknown		x	x	x	35175946	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634379	0.87660	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.17854	2.73;2.63;2.41;2.25;2.94;2.51;2.56;2.67;2.54;3.46	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000006	T	0.50718	0.1632	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0;0.998;0.999;1.0;1.0;0.995	T	0.54384	-0.8302	10	0.56958	D	0.05	-26.541	19.8646	0.96799	0.0:1.0:0.0:0.0	.	298;164;203;251;242;351;307;290;346;329;346;312;385	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	H	385;290;251;203;242;298;164;351;346;307;346;329	ENSP00000367180:D251H;ENSP00000377741:D203H;ENSP00000367179:D242H;ENSP00000367194:D298H;ENSP00000367188:D164H;ENSP00000438972:D351H;ENSP00000345622:D346H;ENSP00000341977:D307H;ENSP00000344471:D346H;ENSP00000420463:D329H	ENSP00000341977:D307H	D	-	1	0	IKZF3	35175946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.026000	0.70873	2.702000	0.92279	0.655000	0.94253	GAC		0.532	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		Missense_Mutation
FADS6	283985	broad.mit.edu	37	17	72874579	72874580	+	Missense_Mutation	DNP	GT	GT	CG	rs576359470		TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr17:72874579_72874580GT>CG	ENST00000310226.6	-	6	947_948	c.933_934AC>CG	c.(931-936)ctACgt>ctCGgt	p.R312G		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	318					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTTCTCACGTAGGAACTGGG	0.604																																																0			17																																								70386175	SO:0001583	missense	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.933_934delinsCG	17.37:g.72874579_72874580delinsCG	ENSP00000307821:p.Arg312Gly	Unknown		x	x	x	70386174	Q17RQ7|Q6XYE1	Missense_Mutation	DNP	ENST00000310226.6	37	CCDS54163.1	DNP	40	Broad																																																																																				0.604	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			Missense_Mutation
TYK2	7297	broad.mit.edu	37	19	10463642	10463643	+	Missense_Mutation	DNP	AC	AC	GG			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr19:10463642_10463643AC>GG	ENST00000525621.1	-	22	3640_3641	c.3159_3160GT>CC	c.(3157-3162)gaGTac>gaCCac	p.1053_1054EY>DH	TYK2_ENST00000524462.1_Missense_Mutation_p.868_869EY>DH|TYK2_ENST00000264818.6_Missense_Mutation_p.1053_1054EY>DH|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1053	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E1053_Y1054>DH(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACGCGGTAGTACTCGTGGCCTT	0.658																																																1	Complex - compound substitution(1)	ovary(1)	19																																								10324643	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3159_3160delinsGG	19.37:g.10463642_10463643delinsGG	ENSP00000431885:p.E1053_Y1054delinsDH	Unknown		x	x	x	10324642	Q6QB10|Q96CH0	Missense_Mutation	DNP	ENST00000525621.1	37	CCDS12236.1	DNP	14	Broad																																																																																				0.658	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			Missense_Mutation
TMEM38A	79041	broad.mit.edu	37	19	16790828	16790828	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr19:16790828C>T	ENST00000187762.2	+	2	249	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A53V(2)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CACCCCATCGCGTCCTGGCTG	0.602																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	19											54.0	40.0	45.0					19																	16790828		2203	4300	6503	16651828	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.158C>T	19.37:g.16790828C>T	ENSP00000187762:p.Ala53Val	Unknown		x	x	x	16651828	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813899	0.70912	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	L	0.57536	1.79	0.80722	D	1	D	0.56287	0.975	P	0.52554	0.702	T	0.67313	-0.5702	9	0.46703	T	0.11	-14.3296	17.9316	0.88999	0.0:1.0:0.0:0.0	.	53	Q9H6F2	TM38A_HUMAN	V	53	.	ENSP00000187762:A53V	A	+	2	0	TMEM38A	16651828	1.000000	0.71417	0.380000	0.26093	0.076000	0.17211	7.371000	0.79600	2.474000	0.83562	0.561000	0.74099	GCG		0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		Missense_Mutation
RELB	5971	broad.mit.edu	37	19	45525321	45525321	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr19:45525321G>A	ENST00000221452.8	+	5	665	c.515G>A	c.(514-516)tGt>tAt	p.C172Y	RELB_ENST00000505236.1_Missense_Mutation_p.C169Y|RELB_ENST00000540120.1_Missense_Mutation_p.C172Y	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	172	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.C172Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTCCGGGATTGTGGAGGGCTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											32.0	39.0	37.0					19																	45525321		2005	4168	6173	50217161	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.515G>A	19.37:g.45525321G>A	ENSP00000221452:p.Cys172Tyr	Unknown		x	x	x	50217161	Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	0.335	-0.953569	0.02285	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.29655	1.56;1.56;1.56	4.19	1.86	0.25419	.	0.155800	0.43416	D	0.000574	T	0.06234	0.0161	N	0.01134	-0.995	0.36099	D	0.844027	B	0.28820	0.224	B	0.20577	0.03	T	0.33033	-0.9884	10	0.02654	T	1	-0.0934	4.4746	0.11729	0.1161:0.0:0.6641:0.2198	.	169	D6R992	.	Y	172;172;169	ENSP00000221452:C172Y;ENSP00000445542:C172Y;ENSP00000423287:C169Y	ENSP00000221452:C172Y	C	+	2	0	RELB	50217161	0.995000	0.38212	0.977000	0.42913	0.946000	0.59487	2.720000	0.47252	1.092000	0.41356	0.462000	0.41574	TGT		0.632	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			Missense_Mutation
MATN3	4148	broad.mit.edu	37	2	20206049	20206049	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr2:20206049C>A	ENST00000407540.3	-	2	308	c.246G>T	c.(244-246)ttG>ttT	p.L82F	MATN3_ENST00000421259.2_Missense_Mutation_p.L82F|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	82					extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACCAGGTCCAAGGGTCTGC	0.458																																																0			2											22.0	22.0	22.0					2																	20206049		1924	4132	6056	20069530	SO:0001583	missense	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.246G>T	2.37:g.20206049C>A	ENSP00000383894:p.Leu82Phe	Unknown		x	x	x	20069530	B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	CCDS46226.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749058	0.49257	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.80304	-1.36;-1.36	5.93	5.93	0.95920	von Willebrand factor, type A (1);	0.139707	0.47852	D	0.000215	D	0.86822	0.6025	M	0.66560	2.04	0.53005	D	0.999963	D;D	0.71674	0.992;0.998	P;D	0.68621	0.889;0.959	D	0.86763	0.1968	10	0.59425	D	0.04	-18.9431	10.4968	0.44783	0.0:0.792:0.1357:0.0724	.	82;82	B2CPU0;O15232	.;MATN3_HUMAN	F	82	ENSP00000383894:L82F;ENSP00000398753:L82F	ENSP00000383894:L82F	L	-	3	2	MATN3	20069530	0.002000	0.14202	0.999000	0.59377	0.679000	0.39708	-0.630000	0.05502	2.826000	0.97356	0.655000	0.94253	TTG		0.458	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		Missense_Mutation
RASGRP3	25780	broad.mit.edu	37	2	33768654	33768654	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr2:33768654T>C	ENST00000403687.3	+	13	2094	c.1354T>C	c.(1354-1356)Ttt>Ctt	p.F452L	RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.F452L|RASGRP3_ENST00000407811.1_Missense_Mutation_p.F451L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	452	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.F452L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCTGCCAATTTTCCCTTCTT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											101.0	91.0	94.0					2																	33768654		1822	4085	5907	33622158	SO:0001583	missense	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1354T>C	2.37:g.33768654T>C	ENSP00000384192:p.Phe452Leu	Unknown		x	x	x	33622158	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	34	5.302034	0.95601	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	D;D;D	0.82893	-1.64;-1.64;-1.66	5.54	5.54	0.83059	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90075	0.6900	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.91635	0.999;0.995	D	0.91165	0.4964	10	0.87932	D	0	-14.0444	15.6717	0.77283	0.0:0.0:0.0:1.0	.	451;452	D6W583;Q8IV61	.;GRP3_HUMAN	L	452;452;451	ENSP00000385886:F452L;ENSP00000384192:F452L;ENSP00000383917:F451L	ENSP00000385886:F452L	F	+	1	0	RASGRP3	33622158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	2.102000	0.63906	0.460000	0.39030	TTT		0.328	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		Missense_Mutation
ITPRIPL1	150771	broad.mit.edu	37	2	96993851	96993851	+	Silent	SNP	C	C	G			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr2:96993851C>G	ENST00000439118.2	+	3	1733	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	ITPRIPL1_ENST00000542887.1_Silent_p.L486L|ITPRIPL1_ENST00000536814.1_Silent_p.L486L|ITPRIPL1_ENST00000361124.4_Silent_p.L502L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	494						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCATTTCCTCATTGGTAACA	0.547																																																0			2											84.0	82.0	82.0					2																	96993851		2203	4300	6503	96357578	SO:0001819	synonymous_variant	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1482C>G	2.37:g.96993851C>G		Unknown		x	x	x	96357578	F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	CCDS46360.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	3.838	-0.034481	0.07543	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.49	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7013	12.4976	0.55937	0.0:0.7006:0.2994:0.0	.	.	.	.	X	526	.	.	S	+	2	0	ITPRIPL1	96357578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.821000	0.39041	2.865000	0.98341	0.655000	0.94253	TCA		0.547	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		Silent
ANKZF1	55139	broad.mit.edu	37	2	220098567	220098567	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr2:220098567G>T	ENST00000323348.5	+	8	1124	c.950G>T	c.(949-951)gGg>gTg	p.G317V	ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107V|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	317						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G317V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAAAGGGGGGATCCCCGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											59.0	63.0	62.0					2																	220098567		1935	4130	6065	219806811	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.950G>T	2.37:g.220098567G>T	ENSP00000321617:p.Gly317Val	Unknown		x	x	x	219806811	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616592	0.46736	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.26518	1.73;1.92;1.73	5.13	2.87	0.33458	.	0.282037	0.42420	D	0.000709	T	0.29749	0.0743	L	0.57536	1.79	0.49299	D	0.999773	P;P;P	0.50443	0.773;0.935;0.808	B;P;B	0.48063	0.372;0.565;0.206	T	0.02676	-1.1125	10	0.56958	D	0.05	-2.2372	8.6369	0.33953	0.3185:0.0:0.6815:0.0	.	261;107;317	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	V	317;107;317	ENSP00000321617:G317V;ENSP00000386815:G107V;ENSP00000386337:G317V	ENSP00000321617:G317V	G	+	2	0	ANKZF1	219806811	0.975000	0.34042	0.955000	0.39395	0.986000	0.74619	2.103000	0.41806	0.474000	0.27392	0.655000	0.94253	GGG		0.592	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		Missense_Mutation
MYH7B	57644	broad.mit.edu	37	20	33568497	33568497	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr20:33568497A>G	ENST00000262873.7	+	6	677	c.585A>G	c.(583-585)atA>atG	p.I195M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	153	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I195M(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCCCCATATATATGCGGTGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	20											70.0	78.0	75.0					20																	33568497		2115	4240	6355	33032158	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.585A>G	20.37:g.33568497A>G	ENSP00000262873:p.Ile195Met	Unknown		x	x	x	33032158	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561474	0.45590	.	.	ENSG00000078814	ENST00000262873	D	0.90620	-2.7	4.46	-3.12	0.05282	Myosin head, motor domain (2);	0.000000	0.41823	D	0.000806	D	0.96343	0.8807	H	0.98951	4.38	0.41093	D	0.985619	D	0.67145	0.996	D	0.91635	0.999	D	0.94405	0.7626	10	0.87932	D	0	.	9.83	0.40937	0.1843:0.6154:0.0:0.2003	.	153	A7E2Y1	MYH7B_HUMAN	M	195	ENSP00000262873:I195M	ENSP00000262873:I195M	I	+	3	3	MYH7B	33032158	1.000000	0.71417	0.699000	0.30290	0.024000	0.10985	1.067000	0.30616	-0.302000	0.08869	0.533000	0.62120	ATA		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		Missense_Mutation
NELFCD	51497	broad.mit.edu	37	20	57566083	57566083	+	Missense_Mutation	SNP	G	G	A	rs375888011		TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr20:57566083G>A	ENST00000344018.3	+	8	961	c.934G>A	c.(934-936)Gtc>Atc	p.V312I	NELFCD_ENST00000602795.1_Missense_Mutation_p.V321I			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	312					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.V312I(1)									TGACATCACCGTCCTGTTCAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	20						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		934	6.1	0.4	20		89	0,8600		0,0,4300	no	missense	TH1L	NM_198976.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	312/591	57566083	1,13005	2203	4300	6503	56999478	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.934G>A	20.37:g.57566083G>A	ENSP00000342300:p.Val312Ile	Unknown		x	x	x	56999478	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582815	0.65992	2.27E-4	0.0	ENSG00000101158	ENST00000344018	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.71184	0.972;0.959	T	0.72947	-0.4137	9	0.42905	T	0.14	-53.0266	20.6452	0.99591	0.0:0.0:1.0:0.0	.	321;312	E1P5H4;Q8IXH7	.;NELFD_HUMAN	I	312	.	ENSP00000342300:V312I	V	+	1	0	TH1L	56999478	1.000000	0.71417	0.397000	0.26308	0.678000	0.39670	9.751000	0.98889	2.885000	0.99019	0.650000	0.86243	GTC		0.552	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		Missense_Mutation
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	20											157.0	172.0	167.0					20																	61596986		2121	4242	6363	61067431	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile	Unknown		x	x	x	61067431	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		Missense_Mutation
MKL1	57591	broad.mit.edu	37	22	40825758	40825758	+	Silent	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr22:40825758C>T	ENST00000355630.3	-	7	743	c.153G>A	c.(151-153)gaG>gaA	p.E51E	MKL1_ENST00000402630.1_Silent_p.E51E|MKL1_ENST00000402042.1_Silent_p.E51E|MKL1_ENST00000407029.1_Silent_p.E51E|MKL1_ENST00000396617.3_Silent_p.E51E	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	51	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E51E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGAGGGATGGCTCAGCCGAGG	0.592			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Substitution - coding silent(1)	ovary(1)	22											86.0	79.0	81.0					22																	40825758		2203	4300	6503	39155704	SO:0001819	synonymous_variant	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.153G>A	22.37:g.40825758C>T		Unknown		x	x	x	39155704	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	CCDS14003.1	SNP	28	Broad																																																																																				0.592	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		Silent
L3MBTL2	83746	broad.mit.edu	37	22	41612212	41612212	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr22:41612212C>A	ENST00000216237.5	+	4	624	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	156					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGAGCCTTCCTCCACTCTCA	0.567																																																0			22											68.0	59.0	62.0					22																	41612212		2203	4300	6503	39942158	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.466C>A	22.37:g.41612212C>A	ENSP00000216237:p.Leu156Ile	Unknown		x	x	x	39942158	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	SNP	24	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.684329|4.684329	0.88639|0.88639	.|.	.|.	ENSG00000100395|ENSG00000100395	ENST00000216237|ENST00000449635	T|.	0.18657|.	2.2|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.270925|.	0.37219|.	N|.	0.002191|.	T|T	0.59473|0.59473	0.2196|0.2196	L|L	0.31065|0.31065	0.9|0.9	0.47819|0.47819	D|D	0.999526|0.999526	P;B|.	0.46912|.	0.886;0.23|.	P;B|.	0.45829|.	0.494;0.082|.	T|T	0.52533|0.52533	-0.8563|-0.8563	10|5	0.24483|.	T|.	0.36|.	.|.	19.7516|19.7516	0.96271|0.96271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;156|.	Q969R5-3;Q969R5|.	.;LMBL2_HUMAN|.	I|H	156|103	ENSP00000216237:L156I|.	ENSP00000216237:L156I|.	L|P	+|+	1|2	0|0	L3MBTL2|L3MBTL2	39942158|39942158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.059000|5.059000	0.64306|0.64306	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.567	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		Missense_Mutation
NKTR	4820	broad.mit.edu	37	3	42687457	42687458	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr3:42687457_42687458GA>TC	ENST00000232978.8	+	17	4567_4568	c.4379_4380GA>TC	c.(4378-4380)aGA>aTC	p.R1460I	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1460					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R1460I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAGCAGCAGATACAGTTGAA	0.361																																																1	Substitution - Missense(1)	ovary(1)	3																																								42662462	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	Exception_encountered	3.37:g.42687457_42687458delinsTC	ENSP00000232978:p.Arg1460Ile	Unknown		x	x	x	42662461		Missense_Mutation	DNP	ENST00000232978.8	37	CCDS2702.1	DNP	33	Broad																																																																																				0.361	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		Missense_Mutation
SPCS1	28972	broad.mit.edu	37	3	52740293	52740293	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr3:52740293C>A	ENST00000602728.1	+	1	200	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Intron|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.Q78K|GLT8D1_ENST00000394783.3_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	11					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.Q11K(1)		kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GCTGCCCACGCAGATGGTGAG	0.682																																																1	Substitution - Missense(1)	ovary(1)	3											19.0	19.0	19.0					3																	52740293		2203	4299	6502	52715333	SO:0001583	missense	28972			AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.31C>A	3.37:g.52740293C>A	ENSP00000473265:p.Gln11Lys	Unknown		x	x	x	52715333	B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397069	0.83120	.	.	ENSG00000114902	ENST00000233025	.	.	.	5.44	5.44	0.79542	.	0.058931	0.64402	D	0.000002	T	0.42787	0.1218	N	0.24115	0.695	0.40783	D	0.983193	P	0.43231	0.801	B	0.40940	0.344	T	0.47959	-0.9076	9	0.54805	T	0.06	-4.8996	15.9941	0.80228	0.0:1.0:0.0:0.0	.	78	Q9Y6A9	SPCS1_HUMAN	K	78	.	ENSP00000233025:Q78K	Q	+	1	0	SPCS1	52715333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.117000	0.57877	2.557000	0.86248	0.650000	0.86243	CAG		0.682	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		Missense_Mutation
GTF2E1	2960	broad.mit.edu	37	3	120489646	120489646	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr3:120489646C>T	ENST00000283875.5	+	3	613	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R174C(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAAGATGCACGCACACTTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											215.0	208.0	210.0					3																	120489646		2203	4300	6503	121972336	SO:0001583	missense	2960			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.520C>T	3.37:g.120489646C>T	ENSP00000283875:p.Arg174Cys	Unknown		x	x	x	121972336	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010546	0.75046	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.57436	0.4	5.91	5.91	0.95273	Zinc finger, TFIIB-type (1);	0.047836	0.85682	D	0.000000	T	0.73606	0.3608	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76490	-0.2940	10	0.72032	D	0.01	-28.9424	12.8145	0.57657	0.2556:0.7444:0.0:0.0	.	174	P29083	T2EA_HUMAN	C	7;174	ENSP00000283875:R174C	ENSP00000283875:R174C	R	+	1	0	GTF2E1	121972336	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	2.623000	0.46435	2.813000	0.96785	0.655000	0.94253	CGC		0.428	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		Missense_Mutation
SH3BP2	6452	broad.mit.edu	37	4	2822468	2822469	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr4:2822468_2822469CA>AT	ENST00000356331.5	+	2	385_386	c.124_125CA>AT	c.(124-126)CAg>ATg	p.Q42M	SH3BP2_ENST00000435136.2_Missense_Mutation_p.Q42M|SH3BP2_ENST00000452765.2_Missense_Mutation_p.Q42M|SH3BP2_ENST00000511747.1_Missense_Mutation_p.Q42M|SH3BP2_ENST00000389838.2_Missense_Mutation_p.Q42M|SH3BP2_ENST00000503393.2_Missense_Mutation_p.Q99M|SH3BP2_ENST00000442312.2_Missense_Mutation_p.Q70M	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	42	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.Q42M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TACCCAGCTGCAGCTGCTGAAA	0.604									Cherubism																																							1	Substitution - Missense(1)	ovary(1)	4																																								2792267	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		Exception_encountered	4.37:g.2822468_2822469delinsAT	ENSP00000348685:p.Gln42Met	Unknown		x	x	x	2792266	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	DNP	ENST00000356331.5	37	CCDS33944.1	DNP	25	Broad																																																																																				0.604	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		Missense_Mutation
PDGFRA	5156	broad.mit.edu	37	4	55144647	55144647	+	Silent	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr4:55144647C>A	ENST00000257290.5	+	15	2452	c.2121C>A	c.(2119-2121)atC>atA	p.I707I	FIP1L1_ENST00000507166.1_Silent_p.I467I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I707I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGCTGGATATCTTTGGATTGA	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - coding silent(1)	ovary(1)	4											94.0	92.0	93.0					4																	55144647		2203	4300	6503	54839404	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2121C>A	4.37:g.55144647C>A		Unknown		x	x	x	54839404	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1	SNP	32	Broad																																																																																				0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		Silent
SCLT1	132320	broad.mit.edu	37	4	129920832	129920832	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr4:129920832G>C	ENST00000281142.5	-	7	1047	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	SCLT1_ENST00000503215.1_Missense_Mutation_p.Q159E|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q182E|SCLT1_ENST00000502495.1_5'Flank|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	182					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.Q182E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ATTACCTTTTGTTTTTGACTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											103.0	102.0	103.0					4																	129920832		2202	4299	6501	130140282	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.544C>G	4.37:g.129920832G>C	ENSP00000281142:p.Gln182Glu	Unknown		x	x	x	130140282	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867882	0.51588	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.08720	3.06;3.06;3.06	5.63	5.63	0.86233	.	0.130668	0.52532	D	0.000065	T	0.27798	0.0684	M	0.64997	1.995	0.40284	D	0.978434	D;D	0.67145	0.996;0.99	D;D	0.76071	0.987;0.979	T	0.00239	-1.1888	9	.	.	.	-4.825	18.4348	0.90642	0.0:0.0:1.0:0.0	.	182;182	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	E	182;182;159	ENSP00000281142:Q182E;ENSP00000401539:Q182E;ENSP00000424029:Q159E	.	Q	-	1	0	SCLT1	130140282	1.000000	0.71417	0.967000	0.41034	0.422000	0.31414	4.809000	0.62591	2.636000	0.89361	0.557000	0.71058	CAA		0.383	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		Missense_Mutation
CYFIP2	26999	broad.mit.edu	37	5	156738785	156738785	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr5:156738785G>T	ENST00000521420.1	+	10	1119	c.1028G>T	c.(1027-1029)aGt>aTt	p.S343I	CYFIP2_ENST00000347377.6_Missense_Mutation_p.S369I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.S294I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S43I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S369I|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S173I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S369I					cytoplasmic FMR1 interacting protein 2									p.S369I(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACAGCAACAGTGAGGTGAGC	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											26.0	26.0	26.0					5																	156738785		2178	4277	6455	156671363	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1028G>T	5.37:g.156738785G>T	ENSP00000430904:p.Ser343Ile	Unknown		x	x	x	156671363		Missense_Mutation	SNP	ENST00000521420.1	37		SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906280	0.72868	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23950	2.19;2.18;2.17;2.17;2.17;2.18;1.88	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;P	0.45531	0.262;0.161;0.443;0.068;0.169;0.86	B;B;B;B;B;P	0.55391	0.096;0.067;0.167;0.015;0.091;0.775	T	0.04607	-1.0939	10	0.45353	T	0.12	-15.401	19.3471	0.94367	0.0:0.0:1.0:0.0	.	233;173;343;369;369;369	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	I	369;173;343;369;369;294;43	ENSP00000325817:S369I;ENSP00000428009:S173I;ENSP00000430904:S343I;ENSP00000313567:S369I;ENSP00000366799:S369I;ENSP00000444645:S294I;ENSP00000403793:S43I	ENSP00000325817:S369I	S	+	2	0	CYFIP2	156671363	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.814000	0.99346	2.566000	0.86566	0.655000	0.94253	AGT		0.602	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		Missense_Mutation
BAK1	578	broad.mit.edu	37	6	33541965	33541965	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr6:33541965C>G	ENST00000374467.3	-	5	625	c.377G>C	c.(376-378)gGc>gCc	p.G126A	BAK1_ENST00000360661.5_Missense_Mutation_p.G126A|BAK1_ENST00000442998.2_Missense_Mutation_p.A133P	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	126					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CACCACACGGCCCCAATTGAT	0.627																																																0			6											46.0	46.0	46.0					6																	33541965		2203	4300	6503	33649943	SO:0001583	missense	578			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.377G>C	6.37:g.33541965C>G	ENSP00000363591:p.Gly126Ala	Unknown		x	x	x	33649943	C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	CCDS4781.1	SNP	26	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.279696|4.279696	0.80692|0.80692	.|.	.|.	ENSG00000030110|ENSG00000030110	ENST00000442998|ENST00000374460;ENST00000374467;ENST00000360661	T|T;T	0.26660|0.36340	1.72|1.26;1.26	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH1 motif, conserved site (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.56077|0.56077	0.1961|0.1961	M|M	0.80746|0.80746	2.51|2.51	0.36398|0.36398	D|D	0.862937|0.862937	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.64123|0.64123	-0.6481|-0.6481	7|10	0.87932|0.87932	D|D	0|0	-25.7919|-25.7919	16.7365|16.7365	0.85448|0.85448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|126	.|Q16611	.|BAK_HUMAN	P|A	133|106;126;126	ENSP00000391258:A133P|ENSP00000363591:G126A;ENSP00000353878:G126A	ENSP00000391258:A133P|ENSP00000353878:G126A	A|G	-|-	1|2	0|0	BAK1|BAK1	33649943|33649943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.345000|5.345000	0.65987|0.65987	2.532000|2.532000	0.85374|0.85374	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.627	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		Missense_Mutation
PKHD1	5314	broad.mit.edu	37	6	51882233	51882233	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr6:51882233G>T	ENST00000371117.3	-	34	5850	c.5575C>A	c.(5575-5577)Cca>Aca	p.P1859T	PKHD1_ENST00000340994.4_Missense_Mutation_p.P1859T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1859					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGAATGATGGAAACATTGAC	0.502																																																0			6											147.0	132.0	137.0					6																	51882233		2203	4300	6503	51990192	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5575C>A	6.37:g.51882233G>T	ENSP00000360158:p.Pro1859Thr	Unknown		x	x	x	51990192	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.098495	0.00360	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86497	-1.93;-2.13	5.77	-0.524	0.11920	.	0.567906	0.18417	N	0.141867	T	0.55737	0.1939	N	0.17082	0.46	0.09310	N	1	B;B	0.27140	0.169;0.085	B;B	0.21360	0.034;0.025	T	0.52366	-0.8585	10	0.56958	D	0.05	.	6.4652	0.21977	0.3564:0.1166:0.527:0.0	.	1859;1859	P08F94-2;P08F94	.;PKHD1_HUMAN	T	1859	ENSP00000360158:P1859T;ENSP00000341097:P1859T	ENSP00000341097:P1859T	P	-	1	0	PKHD1	51990192	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	1.095000	0.30964	-0.040000	0.13580	0.655000	0.94253	CCA		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		Missense_Mutation
FHL5	9457	broad.mit.edu	37	6	97051625	97051625	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr6:97051625A>C	ENST00000326771.2	+	3	516	c.136A>C	c.(136-138)Aaa>Caa	p.K46Q	FHL5_ENST00000541107.1_Missense_Mutation_p.K46Q	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	46	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K46Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGAATGCAAAAAACCAATTGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											132.0	122.0	125.0					6																	97051625		2203	4300	6503	97158346	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.136A>C	6.37:g.97051625A>C	ENSP00000326022:p.Lys46Gln	Unknown		x	x	x	97158346	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	A	9.198	1.027745	0.19512	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.88586	-2.4;-2.4;-2.4	5.74	-0.0484	0.13839	Zinc finger, LIM-type (5);	0.472817	0.17871	N	0.159174	T	0.68329	0.2989	L	0.41027	1.25	0.26805	N	0.969129	B	0.18310	0.027	B	0.22152	0.038	T	0.60301	-0.7290	10	0.39692	T	0.17	.	5.7929	0.18371	0.4378:0.2354:0.3268:0.0	.	46	Q5TD97	FHL5_HUMAN	Q	46	ENSP00000442357:K46Q;ENSP00000326022:K46Q;ENSP00000396390:K46Q	ENSP00000326022:K46Q	K	+	1	0	FHL5	97158346	0.077000	0.21312	0.998000	0.56505	0.461000	0.32589	0.145000	0.16157	0.336000	0.23639	-0.242000	0.12053	AAA		0.368	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		Missense_Mutation
SOGA3	387104	broad.mit.edu	37	6	127797484	127797485	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr6:127797484_127797485AG>TA	ENST00000525778.1	-	6	2431_2432	c.1686_1687CT>TA	c.(1684-1689)tcCTtt>tcTAtt	p.F563I	SOGA3_ENST00000465909.2_Missense_Mutation_p.F563I|SOGA3_ENST00000556132.1_Missense_Mutation_p.F563I|SOGA3_ENST00000481848.2_Missense_Mutation_p.F563I|SOGA3_ENST00000368268.2_Missense_Mutation_p.F563I|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	563					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.F563I(1)									TCCCCATAAAAGGATCTGTACT	0.5																																																1	Substitution - Missense(1)	ovary(1)	6																																								127839178	SO:0001583	missense	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.1686_1687delinsTA	6.37:g.127797484_127797485delinsTA	ENSP00000434570:p.Phe563Ile	Unknown		x	x	x	127839177		Missense_Mutation	DNP	ENST00000525778.1	37	CCDS43505.1	DNP	3	Broad																																																																																				0.500	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		Missense_Mutation
TAAR2	9287	broad.mit.edu	37	6	132938805	132938805	+	Silent	SNP	G	G	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr6:132938805G>A	ENST00000367931.1	-	2	539	c.540C>T	c.(538-540)ttC>ttT	p.F180F	TAAR2_ENST00000275191.2_Silent_p.F135F|TAAR2_ENST00000537809.1_Silent_p.F135F			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.F180F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGGCCTCTGAGAAGACCACCC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											67.0	60.0	63.0					6																	132938805		2203	4300	6503	132980498	SO:0001819	synonymous_variant	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.540C>T	6.37:g.132938805G>A		Unknown		x	x	x	132980498	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	CCDS34541.1	SNP	33	Broad																																																																																				0.463	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		Silent
NAT1	9	broad.mit.edu	37	8	18080126	18080126	+	Silent	SNP	C	C	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr8:18080126C>T	ENST00000517492.1	+	3	1208	c.570C>T	c.(568-570)taC>taT	p.Y190Y	NAT1_ENST00000518029.1_Silent_p.Y190Y|NAT1_ENST00000541942.1_Silent_p.Y190Y|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Silent_p.Y252Y|NAT1_ENST00000307719.4_Silent_p.Y190Y|NAT1_ENST00000520546.1_Silent_p.Y190Y|NAT1_ENST00000535084.1_Silent_p.Y190Y|NAT1_ENST00000539092.1_Silent_p.Y190Y			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GAAAAATCTACTCCTTTACTC	0.353																																																0			8											111.0	115.0	114.0					8																	18080126		2203	4300	6503	18124406	SO:0001819	synonymous_variant	9			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.570C>T	8.37:g.18080126C>T		Unknown		x	x	x	18124406	C9JWA6|Q86SY5	Silent	SNP	ENST00000517492.1	37	CCDS6007.1	SNP	20	Broad																																																																																				0.353	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		Silent
XKR4	114786	broad.mit.edu	37	8	56015341	56015341	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr8:56015341T>A	ENST00000327381.6	+	1	393	c.293T>A	c.(292-294)cTg>cAg	p.L98Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	98						integral component of membrane (GO:0016021)		p.L98Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCGCTGTGCCTGCGCCTGGGC	0.776																																																1	Substitution - Missense(1)	ovary(1)	8											14.0	14.0	14.0					8																	56015341		2142	4204	6346	56177895	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.293T>A	8.37:g.56015341T>A	ENSP00000328326:p.Leu98Gln	Unknown		x	x	x	56177895	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476044	0.63737	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83992	-1.79	4.19	2.99	0.34606	.	0.840528	0.09923	N	0.738176	T	0.68183	0.2973	N	0.19112	0.55	0.35190	D	0.773295	B	0.34015	0.435	B	0.24848	0.056	T	0.64123	-0.6481	10	0.30854	T	0.27	-8.3064	8.8338	0.35100	0.1684:0.0:0.0:0.8316	.	98	Q5GH76	XKR4_HUMAN	Q	98	ENSP00000328326:L98Q	ENSP00000328326:L98Q	L	+	2	0	XKR4	56177895	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.785000	0.38684	0.623000	0.30267	0.524000	0.50904	CTG		0.776	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		Missense_Mutation
PQBP1	10084	broad.mit.edu	37	X	48758579	48758580	+	Splice_Site	DNP	GT	GT	CA			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chrX:48758579_48758580GT>CA	ENST00000376563.1	+	3	379		c.e3+1		PQBP1_ENST00000376548.5_Splice_Site|PQBP1_ENST00000473764.1_Splice_Site|PQBP1_ENST00000396763.1_Splice_Site|PQBP1_ENST00000376566.4_Splice_Site|PQBP1_ENST00000447146.2_Splice_Site|PQBP1_ENST00000218224.4_Splice_Site|PQBP1_ENST00000247140.4_Splice_Site	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACCCTTCCTGGTGAGCCTGGGT	0.584																																																1	Unknown(1)	ovary(1)	X																																								48643524	SO:0001630	splice_region_variant	10084			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	Exception_encountered	X.37:g.48758579_48758580delinsCA		Unknown		x	x	x	48643523	Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Splice_Site_SNP	DNP	ENST00000376563.1	37	CCDS14309.1	DNP	44	Broad																																																																																				0.584	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1	Intron	Splice_Site_SNP
BCORL1	63035	broad.mit.edu	37	X	129156935	129156935	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chrX:129156935G>A	ENST00000218147.7	+	6	3868	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1224H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1224H|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1224H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1224					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1224H(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTGAGCACCCGCACGCGCAGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											157.0	134.0	142.0					X																	129156935		2203	4300	6503	128984616	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3671G>A	X.37:g.129156935G>A	ENSP00000218147:p.Arg1224His	Unknown		x	x	x	128984616	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741922	0.89573	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55413	0.52;0.89;0.57;0.52;0.98	5.88	5.88	0.94601	.	0.000000	0.31123	N	0.008204	T	0.63768	0.2539	L	0.27053	0.805	0.47547	D	0.99945	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66724	-0.5851	10	0.66056	D	0.02	-15.7061	19.1445	0.93459	0.0:0.0:1.0:0.0	.	1224;1224	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	H	1224;1224;1224;1224;824	ENSP00000218147:R1224H;ENSP00000307541:R1224H;ENSP00000352253:R1224H;ENSP00000437775:R1224H;ENSP00000399483:R824H	ENSP00000218147:R1224H	R	+	2	0	BCORL1	128984616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.307000	0.72815	2.471000	0.83476	0.600000	0.82982	CGC		0.488	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		Missense_Mutation
MAGEA5	4104	broad.mit.edu	37	X	151283896	151283896	+	RNA	SNP	C	C	A			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chrX:151283896C>A	ENST00000509345.2	-	0	440																											AGGAGGAGGACACAGCCTCCT	0.647																																																0			X											49.0	49.0	49.0					X																	151283896		2203	4300	6503	151034552			4104																															X.37:g.151283896C>A		Unknown		x	x	x	151034552		Silent	SNP	ENST00000509345.2	37		SNP	17	Broad																																																																																				0.647	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			Silent
SRPK3	26576	broad.mit.edu	37	X	153049748	153049748	+	Splice_Site	SNP	G	G	C			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chrX:153049748G>C	ENST00000370101.3	+	11	1193		c.e11-1		SRPK3_ENST00000393786.3_Splice_Site|SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370104.1_Splice_Site|SRPK3_ENST00000370100.1_Splice_Site|SRPK3_ENST00000489426.1_Splice_Site|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTCCCCAGCACCATTCGG	0.607																																					Esophageal Squamous(167;766 3400 32156)											2	Unknown(2)	ovary(2)	X											60.0	53.0	55.0					X																	153049748		2203	4300	6503	152702942	SO:0001630	splice_region_variant	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1148-1G>C	X.37:g.153049748G>C		Unknown		x	x	x	152702942	Q13583|Q4F970|Q562F5|Q9UM62	Splice_Site_SNP	SNP	ENST00000370101.3	37	CCDS35441.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155636	0.21454	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	.	.	.	4.92	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9874	0.36003	0.1779:0.0:0.8221:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRPK3	152702942	1.000000	0.71417	0.361000	0.25849	0.399000	0.30720	5.499000	0.66937	2.283000	0.76528	0.529000	0.55759	.		0.607	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370	Intron	Splice_Site_SNP
SRPK3	26576	broad.mit.edu	37	X	153049750	153049750	+	Splice_Site	SNP	A	A	T			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chrX:153049750A>T	ENST00000370101.3	+	11	1195	c.1149A>T	c.(1147-1149)acA>acT	p.T383T	SRPK3_ENST00000393786.3_Splice_Site_p.T349T|SRPK3_ENST00000370108.3_Splice_Site_p.T350T|SRPK3_ENST00000370104.1_Splice_Site_p.T382T|SRPK3_ENST00000370100.1_Splice_Site_p.T308T|SRPK3_ENST00000489426.1_Splice_Site_p.T450T|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T450T(1)|p.T349T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCCCAGCACCATTCGGTG	0.607																																					Esophageal Squamous(167;766 3400 32156)											2	Substitution - coding silent(2)	ovary(2)	X											60.0	53.0	55.0					X																	153049750		2203	4300	6503	152702944	SO:0001630	splice_region_variant	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1148-1A>T	X.37:g.153049750A>T		Unknown		x	x	x	152702944	Q13583|Q4F970|Q562F5|Q9UM62	Silent	SNP	ENST00000370101.3	37	CCDS35441.1	SNP	6	Broad																																																																																				0.607	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370	Silent	Silent
AHNAK2	113146	broad.mit.edu	37	14	105414599	105414635	+	Frame_Shift_Del	DEL	GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT	GGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT	-	rs199996901|rs555439758|rs374232040|rs72702027|rs181068012	byFrequency	TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr14:105414599_105414635delGGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT	ENST00000333244.5	-	7	7272_7308	c.7153_7189delAAACTCCCAGAGGGCCCCGTGCCGGAGGGAGCCGGCC	c.(7153-7191)aaactcccagagggccccgtgccggagggagccggcctcfs	p.KLPEGPVPEGAGL2385fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2385						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K2385fs*18(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTTGAGGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTTCACATCCACT	0.629																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								104485680	SO:0001589	frameshift_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7153_7189delAAACTCCCAGAGGGCCCCGTGCCGGAGGGAGCCGGCC	14.37:g.105414599_105414635delGGCCGGCTCCCTCCGGCACGGGGCCCTCTGGGAGTTT	ENSP00000353114:p.Lys2385fs	Unknown		Capture	Illumina GAIIx	Phase_I	104485644	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	CCDS45177.1	DEL	35	Broad																																																																																				0.629	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		Frame_Shift_Del
ABCB11	8647	broad.mit.edu	37	2	169833196	169833205	+	Splice_Site	DEL	TTCTGGAGTG	TTCTGGAGTG	-			TCGA-61-2003-01	TCGA-61-2003-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2003-01	TCGA-61-2003-10	g.chr2:169833196_169833205delTTCTGGAGTG	ENST00000263817.6	-	12	1322_1323	c.1198_1199delCACTCCAGAA	c.(1198-1200)cac>c	p.H400fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	400					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.?(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATGATGGGTTTCTGGAGTGAAATACAAAA	0.367																																																1	Unknown(1)	ovary(1)	2																																								169541451	SO:0001630	splice_region_variant	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1198-1CACTCCAGAA>-	2.37:g.169833196_169833205delTTCTGGAGTG		Unknown		Capture	Illumina GAIIx	Phase_I	169541442	Q53TL2|Q9UNB2	Splice_Site_Del	DEL	ENST00000263817.6	37	CCDS46444.1	DEL	64	Broad																																																																																				0.367	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	Frame_Shift_Del	Splice_Site_Del
