#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLCH2	9651	broad.mit.edu	37	1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T	rs370344110		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:2411659G>T	ENST00000419816.2	+	4	827	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000449969.1_Missense_Mutation_p.G158W			O75038	PLCH2_HUMAN	phospholipase C, eta 2	185	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G185W(1)|p.G32W(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGACAAGAACGGGGATGGCAG	0.617																																						ENST00000449969.1																			2	Substitution - Missense(2)	p.G185W(1)|p.G32W(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(472-474)Ggg>Tgg		phospholipase C, eta 2							91.0	101.0	98.0					1																	2411659		2171	4266	6437	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411659G>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.553G>T	1.37:g.2411659G>T	ENSP00000389803:p.Gly185Trp		Somatic				PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W	p.G158W			WXS	Illumina GAIIx	Phase_I	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	4	633	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	185					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	G	14.68	2.607795	0.46527	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.74842	-0.88;-0.88;-0.88	5.01	3.1	0.35709	EF-hand-like domain (1);	0.055410	0.64402	D	0.000001	D	0.88923	0.6569	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89566	0.3810	10	0.87932	D	0	.	10.9998	0.47598	0.0:0.1403:0.7136:0.146	.	185	O75038	PLCH2_HUMAN	W	158;185;185;32	ENSP00000397289:G158W;ENSP00000367747:G185W;ENSP00000367749:G185W	ENSP00000341313:G32W	G	+	1	0	PLCH2	2401519	1.000000	0.71417	0.998000	0.56505	0.638000	0.38207	6.394000	0.73223	0.519000	0.28406	0.561000	0.74099	GGG		0.617	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		36	100	36	100	---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108247662	108247662	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:108247662A>G	ENST00000370056.4	-	16	1798	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000371846.4_Silent_p.Y443Y	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	508					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.Y508Y(2)|p.Y508*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGAGTCTGCATAGTCTGGTC	0.403																																						ENST00000370056.4																			3	Substitution - coding silent(2)|Substitution - Nonsense(1)	p.Y508Y(2)|p.Y508*(1)	prostate(2)|lung(1)	NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1522-1524)taT>taC		vav 3 guanine nucleotide exchange factor							100.0	88.0	92.0					1																	108247662		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108247662A>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1524T>C	1.37:g.108247662A>G			Somatic				VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000343258.4_5'UTR	p.Y508Y	NM_006113.4	NP_006104.4	WXS	Illumina GAIIx	Phase_I	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	16	1798	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	508					B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1524T>C	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	9.297	1.052008	0.19827	.	.	ENSG00000134215	ENST00000529809;ENST00000490388	.	.	.	6.16	-3.72	0.04411	.	.	.	.	.	T	0.48259	0.1490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56432	-0.7980	4	.	.	.	.	12.9536	0.58415	0.5862:0.0:0.4138:0.0	.	.	.	.	T	60;503	.	.	M	-	2	0	VAV3	108049185	0.346000	0.24844	0.628000	0.29241	0.992000	0.81027	-0.180000	0.09754	-0.976000	0.03542	-0.274000	0.10170	ATG		0.403	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		3	133	3	133	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	rs267608043		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:48026269A>G	ENST00000234420.5	+	4	1299	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|MSH6_ENST00000540021.1_Missense_Mutation_p.R253G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	383					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.R383G(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGCACAGGAGGAGGCC	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.R383G(2)|p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|prostate(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1147-1149)Agg>Ggg	Mismatch excision repair (MMR)	mutS homolog 6							114.0	113.0	113.0					2																	48026269		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026269A>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1147A>G	2.37:g.48026269A>G	ENSP00000234420:p.Arg383Gly		Somatic				MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G	p.R383G	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1299	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1147A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376248	0.24857	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.86432	-1.8;-1.86;-2.12	4.26	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	N	0.11724	0.165	0.80722	D	1	B;B;B	0.23058	0.004;0.004;0.079	B;B;B	0.24006	0.017;0.017;0.05	T	0.64407	-0.6415	10	0.27785	T	0.31	-18.3018	10.0175	0.42022	0.6722:0.3278:0.0:0.0	.	253;383;383	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	G	383;381;253;81	ENSP00000234420:R383G;ENSP00000446475:R253G;ENSP00000438580:R81G	ENSP00000234420:R383G	R	+	1	2	MSH6	47879773	0.869000	0.29996	0.951000	0.38953	0.986000	0.74619	1.820000	0.39032	0.674000	0.31244	-0.313000	0.08912	AGG		0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		47	110	47	110	---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A	rs189781710		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:95944760C>A	ENST00000317620.9	+	10	1275	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	381					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P381Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCAGCAGCCGGAAGGGGTG	0.662																																						ENST00000317620.9																			1	Substitution - Missense(1)	p.P381Q(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1141-1143)cCg>cAg		prominin 2							37.0	41.0	39.0					2																	95944760		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944760C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1142C>A	2.37:g.95944760C>A	ENSP00000318270:p.Pro381Gln		Somatic				PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q	p.P381Q	NM_001165978.1	NP_001159450.1	WXS	Illumina GAIIx	Phase_I	Q8N271	PROM2_HUMAN			10	1275	+			381					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1142C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602306	0.46423	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.94	4.94	0.65067	.	0.412269	0.23504	N	0.047466	T	0.53786	0.1818	M	0.75447	2.3	0.34931	D	0.749399	D	0.56287	0.975	P	0.54590	0.756	T	0.60146	-0.7320	10	0.13108	T	0.6	-12.6349	14.0365	0.64649	0.0:1.0:0.0:0.0	.	381	Q8N271	PROM2_HUMAN	Q	381	ENSP00000385716:P381Q;ENSP00000318520:P381Q;ENSP00000318270:P381Q;ENSP00000442542:P381Q	ENSP00000318270:P381Q	P	+	2	0	PROM2	95308487	0.005000	0.15991	0.790000	0.31976	0.180000	0.23129	1.960000	0.40422	2.446000	0.82766	0.609000	0.83330	CCG		0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	99	3	99	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:170663358G>T	ENST00000409333.1	+	5	656	c.409G>T	c.(409-411)Gta>Tta	p.V137L	SSB_ENST00000260956.4_Missense_Mutation_p.V137L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	137	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.V137L(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAAAGGTCAAGTACTAAATAT	0.299																																						ENST00000409333.1																			1	Substitution - Missense(1)	p.V137L(1)	prostate(1)	endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(409-411)Gta>Tta		Sjogren syndrome antigen B (autoantigen La)							86.0	88.0	88.0					2																	170663358		2203	4298	6501	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170663358G>T		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.409G>T	2.37:g.170663358G>T	ENSP00000386636:p.Val137Leu		Somatic				SSB_ENST00000260956.4_Missense_Mutation_p.V137L	p.V137L			WXS	Illumina GAIIx	Phase_I	P05455	LA_HUMAN			5	656	+			137			RRM.		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.409G>T	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582934	0.46006	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000417292;ENST00000409333	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.43	3.61	0.41365	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.329577	0.33753	N	0.004583	T	0.22627	0.0546	L	0.60455	1.87	0.43777	D	0.996302	B;B	0.21309	0.027;0.054	B;B	0.28638	0.052;0.092	T	0.04333	-1.0959	10	0.66056	D	0.02	-13.7897	8.6743	0.34170	0.2337:0.0:0.7663:0.0	.	137;137	E9PFH8;P05455	.;LA_HUMAN	L	137;137;137;86;137	ENSP00000397029:V137L;ENSP00000260956:V137L;ENSP00000396890:V86L;ENSP00000386636:V137L	ENSP00000260956:V137L	V	+	1	0	SSB	170371604	0.825000	0.29262	1.000000	0.80357	0.995000	0.86356	1.070000	0.30653	0.758000	0.33059	0.467000	0.42956	GTA		0.299	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		5	165	5	165	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:179472383C>T	ENST00000591111.1	-	227	48333	c.48109G>A	c.(48109-48111)Gtc>Atc	p.V16037I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V17678I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16037	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCTTGACAGAAACATCC	0.428																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53032-53034)Gtc>Atc		titin							101.0	99.0	100.0					2																	179472383		1857	4091	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472383C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48109G>A	2.37:g.179472383C>T	ENSP00000465570:p.Val16037Ile		Somatic				TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.V17678I	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53256	-			16037			Fibronectin type-III 28.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53032G>A		.	.	.	.	.	.	.	.	.	.	C	15.27	2.785160	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;0.19;0.19;0.18	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66297	0.2775	N	0.05414	-0.055	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.73180	-0.4064	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	8613;8738;8805;16037	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15110;8613;8805;8738;8613	ENSP00000343764:V15110I;ENSP00000434586:V8613I;ENSP00000340554:V8805I;ENSP00000352154:V8738I	ENSP00000340554:V8805I	V	-	1	0	TTN	179180628	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.635000	0.61332	2.941000	0.99782	0.655000	0.94253	GTC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	116	79	116	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.R563W(2)	prostate(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1687-1689)Cgg>Tgg		zinc finger, DBF-type containing 2							93.0	86.0	88.0					2																	207170939		1869	4110	5979	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170939C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1687C>T	2.37:g.207170939C>T	ENSP00000363545:p.Arg563Trp		Somatic					p.R563W	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	2073	+			563					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1687C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004503	0.35320	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.02	-3.77	0.04346	.	1.684400	0.03907	N	0.281273	T	0.29223	0.0727	L	0.34521	1.04	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.17899	-1.0354	10	0.38643	T	0.18	.	5.6932	0.17841	0.0:0.3167:0.4149:0.2684	.	563	Q9HCK1	ZDBF2_HUMAN	W	563	ENSP00000363545:R563W	ENSP00000363545:R563W	R	+	1	2	ZDBF2	206879184	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.887000	0.01617	-0.824000	0.04295	-0.181000	0.13052	CGG		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		27	47	27	47	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:9788936A>G	ENST00000457855.1	+	13	3559	c.3548A>G	c.(3547-3549)aAc>aGc	p.N1183S	OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000302008.8_5'Flank|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000449570.2_5'Flank|OGG1_ENST00000302003.7_5'Flank|BRPF1_ENST00000383829.2_Missense_Mutation_p.N1189S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000344629.7_5'Flank			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1183					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N1189S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGCAAGTCCAACATCCGCAAG	0.567																																						ENST00000383829.2																			1	Substitution - Missense(1)	p.N1189S(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(3565-3567)aAc>aGc		bromodomain and PHD finger containing, 1							137.0	118.0	124.0					3																	9788936		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788936A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3548A>G	3.37:g.9788936A>G	ENSP00000410210:p.Asn1183Ser		Somatic				BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S	p.N1189S	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	P55201	BRPF1_HUMAN			14	3970	+	Medulloblastoma(99;0.227)		1183					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3566A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	7.535	0.659519	0.14645	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	N	0.12569	0.235	0.80722	D	1	D;B;B;B	0.54047	0.964;0.004;0.002;0.016	P;B;B;B	0.54544	0.755;0.002;0.001;0.002	T	0.56691	-0.7937	10	0.02654	T	1	.	16.004	0.80344	1.0:0.0:0.0:0.0	.	1088;1182;1189;1183	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	S	1088;1182;1189;1183;1183	ENSP00000402485:N1088S;ENSP00000398863:N1182S;ENSP00000373340:N1189S;ENSP00000306297:N1183S;ENSP00000410210:N1183S	ENSP00000306297:N1183S	N	+	2	0	BRPF1	9763936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.420000	0.80191	2.263000	0.75096	0.379000	0.24179	AAC		0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		28	124	28	124	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.D202G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(604-606)gAc>gGc		SLIT and NTRK-like family, member 3							66.0	68.0	68.0					3																	164908014		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908014T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.605A>G	3.37:g.164908014T>C	ENSP00000420091:p.Asp202Gly	HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G	p.D202G			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	1048	-			202					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.605A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677490	0.68042	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57107	0.42;0.42	5.99	5.99	0.97316	.	0.000000	0.39834	N	0.001258	T	0.71728	0.3374	M	0.67397	2.05	0.58432	D	0.999998	D	0.69078	0.997	D	0.83275	0.996	T	0.74188	-0.3746	10	0.72032	D	0.01	-24.0302	16.4892	0.84195	0.0:0.0:0.0:1.0	.	202	O94933	SLIK3_HUMAN	G	202	ENSP00000420091:D202G;ENSP00000241274:D202G	ENSP00000241274:D202G	D	-	2	0	SLITRK3	166390708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.296000	0.77279	0.533000	0.62120	GAC		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		56	117	56	117	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131531126	131531126	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131531126C>A	ENST00000401867.1	-	14	1987	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2-AS1_ENST00000417667.1_RNA			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	473	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G473G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AAATTGCAGCCCCCAGATCAG	0.493																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			1	Substitution - coding silent(1)	p.G473G(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1417-1419)ggG>ggT		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						122.0	108.0	113.0					5																	131531126		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131531126C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1419G>T	5.37:g.131531126C>A			Somatic				P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000360568.3_Silent_p.G471G	p.G473G			WXS	Illumina GAIIx	Phase_I	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	1987	-		all_cancers(142;0.103)|Breast(839;0.198)	473			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.1419G>T	CCDS4151.1																																																																																				0.493	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		32	79	32	79	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755319	149755319	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:149755319C>T	ENST00000504761.2	+	12	1740	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000451292.1_Silent_p.P580P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000323668.7_Silent_p.P503P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	580					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.P580P(1)|p.P503P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCAAACCCACCTCCAGTC	0.587																																						ENST00000451292.1																			2	Substitution - coding silent(2)	p.P580P(1)|p.P503P(1)	prostate(2)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1738-1740)ccC>ccT		Treacher Collins-Franceschetti syndrome 1							96.0	109.0	105.0					5																	149755319		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755319C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1740C>T	5.37:g.149755319C>T			Somatic				TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P	p.P580P			WXS	Illumina GAIIx	Phase_I	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1848	+		all_hematologic(541;0.224)	580					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1740C>T	CCDS54936.1																																																																																				0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		51	146	51	146	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:170395294T>G	ENST00000523189.1	+	14	1787	c.1623T>G	c.(1621-1623)tgT>tgG	p.C541W		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	541					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.C541W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGATGTTGTAATGAGAAAA	0.343			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)	p.C541W(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1621-1623)tgT>tgG		RAN binding protein 17							95.0	98.0	97.0					5																	170395294		2202	4299	6501	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170395294T>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1623T>G	5.37:g.170395294T>G	ENSP00000427975:p.Cys541Trp		Somatic					p.C541W	NM_022897.3	NP_075048.1	WXS	Illumina GAIIx	Phase_I	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	1787	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	541					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1623T>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076333	0.07184	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.66638	-0.22	5.37	0.267	0.15622	Armadillo-type fold (1);	0.492239	0.18208	N	0.148274	T	0.39091	0.1065	N	0.08118	0	0.24335	N	0.994983	B	0.09022	0.002	B	0.04013	0.001	T	0.21965	-1.0230	10	0.54805	T	0.06	-4.4545	4.271	0.10787	0.1491:0.3286:0.0:0.5223	.	541	Q9H2T7	RBP17_HUMAN	W	541;437	ENSP00000427975:C541W	ENSP00000373770:C541W	C	+	3	2	RANBP17	170327899	0.985000	0.35326	0.785000	0.31869	0.444000	0.32077	0.312000	0.19397	0.092000	0.17331	-0.468000	0.05107	TGT		0.343	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		17	187	17	187	---	---	---	---
GSTA2	2939	broad.mit.edu	37	6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:52616466T>A	ENST00000493422.1	-	6	610	c.455A>T	c.(454-456)aAg>aTg	p.K152M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	152	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.K152M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CCGGCTCAGCTTGTTGCCAAC	0.532																																						ENST00000493422.1																			1	Substitution - Missense(1)	p.K152M(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(454-456)aAg>aTg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						155.0	136.0	142.0					6																	52616466		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616466T>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.455A>T	6.37:g.52616466T>A	ENSP00000420168:p.Lys152Met		Somatic					p.K152M	NM_000846.4	NP_000837.3	WXS	Illumina GAIIx	Phase_I	P09210	GSTA2_HUMAN			6	610	-	Lung NSC(77;0.118)		152			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.455A>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	t	14.89	2.670650	0.47781	.	.	ENSG00000244067	ENST00000493422	T	0.02606	4.23	2.88	-1.36	0.09085	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.632453	0.15849	N	0.241620	T	0.06142	0.0159	M	0.91612	3.225	0.31802	N	0.628317	D	0.58970	0.984	P	0.60415	0.874	T	0.01283	-1.1396	10	0.87932	D	0	.	6.7808	0.23643	0.0:0.3384:0.0:0.6616	.	152	P09210	GSTA2_HUMAN	M	152	ENSP00000420168:K152M	ENSP00000420168:K152M	K	-	2	0	GSTA2	52724425	0.000000	0.05858	0.994000	0.49952	0.880000	0.50808	-1.530000	0.02221	-0.380000	0.07894	-0.425000	0.05940	AAG		0.532	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		63	146	63	146	---	---	---	---
PNLDC1	154197	broad.mit.edu	37	6	160237001	160237001	+	Splice_Site	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:160237001T>C	ENST00000610273.1	+	13	1134	c.963T>C	c.(961-963)agT>agC	p.S321S	PNLDC1_ENST00000392167.3_Splice_Site_p.S332S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	321						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.S321S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTCCAATAGTGACTTGAATC	0.378																																						ENST00000610273.1																			1	Substitution - coding silent(1)	p.S321S(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(961-963)agT>agC		poly(A)-specific ribonuclease (PARN)-like domain containing 1							88.0	86.0	87.0					6																	160237001		2203	4300	6503	SO:0001630	splice_region_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237001T>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.963-1T>C	6.37:g.160237001T>C			Somatic				PNLDC1_ENST00000392167.3_Splice_Site_p.S332S	p.S321S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	WXS	Illumina GAIIx	Phase_I	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	13	1134	+		Breast(66;0.00519)|Ovarian(120;0.123)						Q5TAP7|Q8N7X5	Splice_Site	SNP	ENST00000610273.1	37	c.963T>C	CCDS5271.1																																																																																				0.378	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	Silent	5	126	5	126	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T	rs548939980		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:26224957A>T	ENST00000056233.3	+	4	1898	c.1639A>T	c.(1639-1641)Atc>Ttc	p.I547F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	547					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCTTTGCATATCCCTTTTTC	0.413																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.I547F(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1639-1641)Atc>Ttc		nuclear factor, erythroid 2-like 3							129.0	117.0	121.0					7																	26224957		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224957A>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1639A>T	7.37:g.26224957A>T	ENSP00000056233:p.Ile547Phe		Somatic					p.I547F	NM_004289.6	NP_004280.5	WXS	Illumina GAIIx	Phase_I	Q9Y4A8	NF2L3_HUMAN			4	1898	+			547					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1639A>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610948	0.66558	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.47177	0.85	5.23	2.61	0.31194	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.098210	0.64402	D	0.000002	T	0.68504	0.3008	M	0.89968	3.075	0.58432	D	0.999991	D	0.65815	0.995	P	0.60345	0.873	T	0.75869	-0.3165	10	0.87932	D	0	-10.989	12.1682	0.54141	0.734:0.266:0.0:0.0	.	547	Q9Y4A8	NF2L3_HUMAN	F	547;252	ENSP00000056233:I547F	ENSP00000056233:I547F	I	+	1	0	NFE2L3	26191482	0.999000	0.42202	0.544000	0.28141	0.880000	0.50808	4.145000	0.58065	0.907000	0.36646	0.482000	0.46254	ATC		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	268	5	268	---	---	---	---
HIBADH	11112	broad.mit.edu	37	7	27565971	27565971	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:27565971G>A	ENST00000265395.2	-	8	1079	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	291					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.D291D(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TGGTAGCAGAGTCTTGTGCCA	0.468																																						ENST00000265395.2																			1	Substitution - coding silent(1)	p.D291D(1)	prostate(1)	endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(871-873)gaC>gaT		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						93.0	76.0	82.0					7																	27565971		2203	4300	6503	SO:0001819	synonymous_variant	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565971G>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.873C>T	7.37:g.27565971G>A			Somatic					p.D291D	NM_152740.3	NP_689953.1	WXS	Illumina GAIIx	Phase_I	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1079	-			291					Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	c.873C>T	CCDS5414.1																																																																																				0.468	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		13	45	13	45	---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:36435954C>G	ENST00000265748.2	+	2	319	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	33	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S33C(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTCCAAGGTCTATGACTCAT	0.473																																						ENST00000265748.2																			1	Substitution - Missense(1)	p.S33C(1)	prostate(1)	breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(97-99)tCt>tGt		anillin, actin binding protein							71.0	73.0	72.0					7																	36435954		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36435954C>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.98C>G	7.37:g.36435954C>G	ENSP00000265748:p.Ser33Cys		Somatic				ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	p.S33C	NM_018685.2	NP_061155.2	WXS	Illumina GAIIx	Phase_I	Q9NQW6	ANLN_HUMAN			2	319	+			33			Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.98C>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768924	0.69878	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865;ENST00000418118	T;T;T	0.43688	0.94;0.94;3.98	5.67	4.74	0.60224	.	0.407990	0.28612	N	0.014724	T	0.57301	0.2044	M	0.65975	2.015	0.23162	N	0.998192	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.62740	0.808;0.906;0.808	T	0.51148	-0.8742	10	0.56958	D	0.05	-16.3442	11.3455	0.49559	0.0:0.8024:0.1275:0.0701	.	33;33;33	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	C	33;33;11;11	ENSP00000265748:S33C;ENSP00000379380:S33C;ENSP00000404979:S11C	ENSP00000265748:S33C	S	+	2	0	ANLN	36402479	0.042000	0.20092	0.774000	0.31636	0.225000	0.24961	0.905000	0.28504	2.679000	0.91253	0.591000	0.81541	TCT		0.473	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		42	77	42	77	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:77469597A>G	ENST00000248550.7	+	1	101	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000416283.2_Missense_Mutation_p.I9V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318																																						ENST00000416283.2																			2	Substitution - Missense(2)	p.I9V(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(25-27)Ata>Gta		putative homeodomain transcription factor 2							137.0	130.0	132.0					7																	77469597		1844	4093	5937	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77469597A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.25A>G	7.37:g.77469597A>G	ENSP00000248550:p.Ile9Val		Somatic				PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V	p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	WXS	Illumina GAIIx	Phase_I	Q8N3S3	PHTF2_HUMAN			1	151	+			9					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.25A>G		.	.	.	.	.	.	.	.	.	.	A	9.159	1.018293	0.19355	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.69	4.55	0.56014	.	0.195634	0.44688	D	0.000422	T	0.38026	0.1025	N	0.08118	0	0.38251	D	0.941606	B;B;B;B;B;B;B	0.17465	0.0;0.0;0.022;0.002;0.0;0.0;0.019	B;B;B;B;B;B;B	0.20384	0.0;0.001;0.029;0.002;0.0;0.013;0.016	T	0.33033	-0.9884	9	0.87932	D	0	-1.0009	11.2795	0.49186	0.9281:0.0:0.0719:0.0	.	9;9;9;9;9;9;9	Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;PHTF2_HUMAN;.;.;.;.	V	9	.	ENSP00000248550:I9V	I	+	1	0	PHTF2	77307533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.550000	0.67268	0.997000	0.38969	0.533000	0.62120	ATA		0.318	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		73	125	73	125	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:38899534C>A	ENST00000487273.2	+	12	1278	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	400	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.N400K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGGAGGAAACTGCCTTCTTA	0.408																																						ENST00000487273.2																			1	Substitution - Missense(1)	p.N400K(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1198-1200)aaC>aaA		ADAM metallopeptidase domain 9							90.0	93.0	92.0					8																	38899534		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38899534C>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1200C>A	8.37:g.38899534C>A	ENSP00000419446:p.Asn400Lys		Somatic					p.N400K	NM_003816.2	NP_003807.1	WXS	Illumina GAIIx	Phase_I	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		12	1278	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	400			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1200C>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469829	0.26423	.	.	ENSG00000168615	ENST00000487273	T	0.61392	0.11	6.05	1.77	0.24775	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.476947	0.25558	N	0.029849	T	0.29556	0.0737	N	0.04746	-0.17	0.35723	D	0.81733	B	0.17465	0.022	B	0.25759	0.063	T	0.34601	-0.9822	10	0.02654	T	1	.	10.3124	0.43716	0.0:0.5863:0.0:0.4137	.	400	Q13443	ADAM9_HUMAN	K	400	ENSP00000419446:N400K	ENSP00000369249:N400K	N	+	3	2	ADAM9	39018691	0.880000	0.30214	1.000000	0.80357	0.989000	0.77384	0.024000	0.13555	0.451000	0.26802	-0.145000	0.13849	AAC		0.408	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			7	121	7	121	---	---	---	---
SOX17	64321	broad.mit.edu	37	8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:55371662G>A	ENST00000297316.4	+	2	556	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V118M(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCGGCCCTTCGTGGAGGAGGC	0.687																																						ENST00000297316.4																			1	Substitution - Missense(1)	p.V118M(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(352-354)Gtg>Atg		SRY (sex determining region Y)-box 17							19.0	18.0	18.0					8																	55371662		2187	4280	6467	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371662G>A	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.352G>A	8.37:g.55371662G>A	ENSP00000297316:p.Val118Met		Somatic					p.V118M	NM_022454.3	NP_071899.1	WXS	Illumina GAIIx	Phase_I	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	556	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	118						Missense_Mutation	SNP	ENST00000297316.4	37	c.352G>A	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888873	0.91814	.	.	ENSG00000164736	ENST00000297316	D	0.98044	-4.68	4.03	4.03	0.46877	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99441	1.0938	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:1.0:0.0	.	118	Q9H6I2	SOX17_HUMAN	M	118	ENSP00000297316:V118M	ENSP00000297316:V118M	V	+	1	0	SOX17	55534215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.340000	0.72973	2.087000	0.62958	0.455000	0.32223	GTG		0.687	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			4	7	4	7	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113657357	113657357	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000455883.2_Silent_p.V993V|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000343508.3_Silent_p.V1057V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1097	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1097V(2)|p.V1057V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTTACATCAACAGTCCATG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			3	Substitution - coding silent(3)	p.V1097V(2)|p.V1057V(1)	lung(2)|prostate(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3289-3291)gtT>gtA		CUB and Sushi multiple domains 3							93.0	92.0	92.0					8																	113657357		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113657357A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3291T>A	8.37:g.113657357A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V	p.V1097V	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			20	3535	-			1097			CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3291T>A	CCDS6315.1																																																																																				0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	112	4	112	---	---	---	---
GOLM1	51280	broad.mit.edu	37	9	88650293	88650293	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:88650293A>G	ENST00000388712.3	-	8	1173	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_ENST00000388711.3_Silent_p.A335A|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.A335A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTCCCCGGCAGCTTCCTGCT	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000388712.3																			1	Substitution - coding silent(1)	p.A335A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(1003-1005)gcT>gcC		golgi membrane protein 1							56.0	64.0	61.0					9																	88650293		2203	4300	6503	SO:0001819	synonymous_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650293A>G	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1005T>C	9.37:g.88650293A>G			Somatic	OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_ENST00000388711.3_Silent_p.A335A	p.A335A	NM_016548.3	NP_057632.2	WXS	Illumina GAIIx	Phase_I	Q8NBJ4	GOLM1_HUMAN			8	1173	-			335					Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	c.1005T>C	CCDS35054.1																																																																																				0.622	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		5	180	5	180	---	---	---	---
KIF12	113220	broad.mit.edu	37	9	116858374	116858374	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:116858374C>A	ENST00000374118.3	-	6	675	c.438G>T	c.(436-438)ctG>ctT	p.L146L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	279	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCAAGCATCAGCTCCCCAC	0.622																																						ENST00000374118.3																			1	Substitution - coding silent(1)	p.L146L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(436-438)ctG>ctT		kinesin family member 12							55.0	61.0	59.0					9																	116858374		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858374C>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.438G>T	9.37:g.116858374C>A			Somatic				KIF12_ENST00000473174.1_Intron	p.L146L	NM_138424.1	NP_612433.1	WXS	Illumina GAIIx	Phase_I	Q96FN5	KIF12_HUMAN			6	675	-			279			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.438G>T	CCDS6801.1																																																																																				0.622	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		33	147	33	147	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:15317865G>A	ENST00000378116.4	-	3	413	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	136						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S136L(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAATCCTGATACTATTTG	0.343																																						ENST00000378116.4																			2	Substitution - Missense(2)	p.S136L(2)	prostate(2)	breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(406-408)tCa>tTa		family with sequence similarity 171, member A1							55.0	62.0	59.0					10																	15317865		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15317865G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.407C>T	10.37:g.15317865G>A	ENSP00000367356:p.Ser136Leu		Somatic					p.S136L	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	Q5VUB5	F1711_HUMAN			3	413	-			136					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.407C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272626	0.40194	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.33654	1.4;1.4	5.41	5.41	0.78517	.	0.139206	0.50627	D	0.000107	T	0.48150	0.1484	L	0.38953	1.18	0.80722	D	1	D	0.63046	0.992	D	0.66196	0.942	T	0.19943	-1.0290	10	0.13470	T	0.59	-13.0809	19.2008	0.93711	0.0:0.0:1.0:0.0	.	136	Q5VUB5	F1711_HUMAN	L	136;136;137;136	ENSP00000367356:S136L;ENSP00000407796:S136L	ENSP00000367354:S136L	S	-	2	0	FAM171A1	15357871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.125000	0.94402	2.516000	0.84829	0.585000	0.79938	TCA		0.343	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	92	19	92	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51584846	51584846	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584846G>A	ENST00000443446.1	+	8	1174	c.945G>A	c.(943-945)cgG>cgA	p.R315R	NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000452682.1_Silent_p.R331R|NCOA4_ENST00000414907.2_Silent_p.R149R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R331R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATAAGCTGCGGAAGCCTGAGA	0.453			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - coding silent(1)	p.R331R(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(991-993)cgG>cgA		nuclear receptor coactivator 4							82.0	82.0	82.0					10																	51584846		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584846G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.945G>A	10.37:g.51584846G>A			Somatic				NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R	p.R331R	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	Q13772	NCOA4_HUMAN			9	1245	+			315					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.993G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	0.852	-0.738392	0.03111	.	.	ENSG00000138293	ENST00000431200	.	.	.	4.64	3.74	0.42951	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	4	.	.	.	-3.2217	8.7354	0.34525	0.1002:0.0:0.8998:0.0	.	.	.	.	K	231	.	.	E	+	1	0	NCOA4	51254852	0.976000	0.34144	0.967000	0.41034	0.196000	0.23810	2.202000	0.42743	1.564000	0.49628	0.655000	0.94253	GAA		0.453	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		6	164	6	164	---	---	---	---
FGD4	121512	broad.mit.edu	37	12	32764089	32764089	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:32764089T>C	ENST00000427716.2	+	10	1634	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000531134.1_Silent_p.L489L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	404					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L404L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAAACTCTTAGAGATTTA	0.353																																						ENST00000427716.2																			2	Substitution - coding silent(2)	p.L404L(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1210-1212)Tta>Cta		FYVE, RhoGEF and PH domain containing 4							89.0	94.0	92.0					12																	32764089		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32764089T>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1210T>C	12.37:g.32764089T>C			Somatic				FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L	p.L404L	NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			10	1634	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		404					Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1210T>C	CCDS8727.1																																																																																				0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		4	196	4	196	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:130845793T>G	ENST00000245255.3	+	15	2006	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	578	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.D578E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGTGTACAGATTGCCCTACCC	0.433																																						ENST00000245255.3																			1	Substitution - Missense(1)	p.D578E(1)	prostate(1)	breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1732-1734)gaT>gaG		piwi-like RNA-mediated gene silencing 1							95.0	89.0	91.0					12																	130845793		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130845793T>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1734T>G	12.37:g.130845793T>G	ENSP00000245255:p.Asp578Glu		Somatic					p.D578E	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	WXS	Illumina GAIIx	Phase_I	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	15	2006	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		578			Piwi.|RNA-binding (By similarity).		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1734T>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710517	0.48517	.	.	ENSG00000125207	ENST00000245255	T	0.13657	2.57	5.43	-1.3	0.09259	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.090437	0.85682	D	0.000000	T	0.10035	0.0246	N	0.21282	0.65	0.58432	D	0.999992	B;B	0.30824	0.195;0.296	B;B	0.34931	0.065;0.192	T	0.09574	-1.0668	10	0.33141	T	0.24	-14.6971	14.6265	0.68624	0.0:0.8199:0.0:0.1801	.	578;578	Q96J94;Q96J94-2	PIWL1_HUMAN;.	E	578	ENSP00000245255:D578E	ENSP00000245255:D578E	D	+	3	2	PIWIL1	129411746	0.737000	0.28175	0.835000	0.33067	0.913000	0.54294	-0.091000	0.11146	-0.482000	0.06782	0.533000	0.62120	GAT		0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			30	76	30	76	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C	rs200675964		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:95862980T>C	ENST00000376887.4	-	5	701	c.587A>G	c.(586-588)aAt>aGt	p.N196S	ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000538287.1_3'UTR|snoU13_ENST00000459449.1_RNA	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	196	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.N196S(3)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGACAGCAGATTGACTATCTG	0.418																																						ENST00000376887.4																			3	Substitution - Missense(3)	p.N196S(3)	prostate(3)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(586-588)aAt>aGt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						182.0	137.0	153.0					13																	95862980		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95862980T>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.587A>G	13.37:g.95862980T>C	ENSP00000366084:p.Asn196Ser		Somatic				ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S	p.N196S	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	O15439	MRP4_HUMAN			5	701	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		196			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.587A>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355335	0.82243	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.982;1.0;0.999	D;D;P;D;D	0.85130	0.974;0.997;0.899;0.997;0.98	D	0.95894	0.8909	10	0.87932	D	0	.	14.4731	0.67529	0.0:0.0:0.0:1.0	.	121;196;196;196;196	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	196;196;121;196	ENSP00000388657:N196S;ENSP00000366084:N196S;ENSP00000442024:N121S;ENSP00000398562:N196S	ENSP00000366084:N196S	N	-	2	0	ABCC4	94660981	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	7.385000	0.79763	1.826000	0.53198	0.460000	0.39030	AAT		0.418	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		12	86	12	86	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:63978653G>C	ENST00000443617.2	-	34	6217	c.6130C>G	c.(6130-6132)Cta>Gta	p.L2044V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2044	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L2044V(3)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCCACTAGGCAACACTGA	0.473																																						ENST00000443617.2																			3	Substitution - Missense(3)	p.L2044V(3)	prostate(3)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6130-6132)Cta>Gta		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							178.0	180.0	179.0					15																	63978653		1957	4154	6111	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63978653G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6130C>G	15.37:g.63978653G>C	ENSP00000390158:p.Leu2044Val		Somatic				RP11-317G6.1_ENST00000559303.2_RNA	p.L2044V	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			34	6217	-			2044			B30.2/SPRY.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6130C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	1.034	-0.680973	0.03353	.	.	ENSG00000103657	ENST00000443617	T	0.65178	-0.14	5.5	-2.71	0.05986	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.430875	0.19926	N	0.102975	T	0.20495	0.0493	N	0.02011	-0.69	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.02654	T	1	.	2.1459	0.03787	0.2536:0.09:0.1511:0.5053	.	2044	Q15751	HERC1_HUMAN	V	2044	ENSP00000390158:L2044V	ENSP00000390158:L2044V	L	-	1	2	HERC1	61765706	0.278000	0.24230	0.867000	0.34043	0.889000	0.51656	-0.170000	0.09897	-0.298000	0.08921	-0.459000	0.05422	CTA		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	439	7	439	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7657342	7657342	+	Splice_Site	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:7657342T>G	ENST00000550418.1	+	10	1664		c.e10+2		RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTATGCAGGTACAGAGTTTC	0.368																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.e7+2		RNA binding protein, fox-1 homolog (C. elegans) 1							180.0	162.0	168.0					16																	7657342		2197	4300	6497	SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7657342T>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.676+2T>G	16.37:g.7657342T>G			Somatic				RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NWB1	RFOX1_HUMAN			7	988	+								Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	SNP	ENST00000550418.1	37		CCDS55983.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960628	0.53400	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3611	0.66771	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBFOX1	7597343	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	6.608000	0.74168	2.080000	0.62538	0.454000	0.30748	.		0.368	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Intron	31	187	31	187	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19041572	19041572	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:19041572T>C	ENST00000304381.5	+	6	868	c.738T>C	c.(736-738)ttT>ttC	p.F246F	TMC7_ENST00000421369.3_Silent_p.F136F|TMC7_ENST00000569532.1_Silent_p.F246F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	246					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.F246F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTAGCCTCTTTTACGGACATT	0.507																																						ENST00000421369.3																			1	Substitution - coding silent(1)	p.F246F(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(406-408)ttT>ttC		transmembrane channel-like 7							146.0	132.0	137.0					16																	19041572		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19041572T>C	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.738T>C	16.37:g.19041572T>C			Somatic				TMC7_ENST00000569532.1_Silent_p.F246F|TMC7_ENST00000304381.5_Silent_p.F246F	p.F136F	NM_001160364.1	NP_001153836.1	WXS	Illumina GAIIx	Phase_I	Q7Z402	TMC7_HUMAN			6	966	+			246					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.408T>C	CCDS10573.1																																																																																				0.507	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	283	7	283	---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:31499068G>A	ENST00000330498.3	+	7	892	c.873G>A	c.(871-873)tgG>tgA	p.W291*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	291					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.W291*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCTGGTACTGGTGCAGCGACC	0.721																																						ENST00000330498.3																			1	Substitution - Nonsense(1)	p.W291*(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(871-873)tgG>tgA		solute carrier family 5 (sodium/glucose cotransporter), member 2							21.0	23.0	22.0					16																	31499068		2196	4297	6493	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499068G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.873G>A	16.37:g.31499068G>A	ENSP00000327943:p.Trp291*		Somatic				AC026471.6_ENST00000565137.1_RNA	p.W291*	NM_003041.3	NP_003032.1	WXS	Illumina GAIIx	Phase_I	P31639	SC5A2_HUMAN			7	892	+			291					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.873G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299086	0.95574	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9081	0.41388	0.0:0.2079:0.7921:0.0	.	.	.	.	X	291	.	ENSP00000327943:W291X	W	+	3	0	SLC5A2	31406569	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.493000	0.73658	2.136000	0.66102	0.455000	0.32223	TGG		0.721	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			10	33	10	33	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1559946A>C	ENST00000572621.1	-	34	5880	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1872	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L1872R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTACCTCCAGTGGGTCCAG	0.552																																						ENST00000572621.1																			1	Substitution - Missense(1)	p.L1872R(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5614-5616)cTg>cGg		pre-mRNA processing factor 8							58.0	47.0	51.0					17																	1559946		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559946A>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5615T>G	17.37:g.1559946A>C	ENSP00000460348:p.Leu1872Arg		Somatic				PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R	p.L1872R			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	34	5880	-			1872			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5615T>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	26.2	4.713593	0.89112	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.86497	-2.13	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96038	0.9022	10	0.87932	D	0	-12.1636	15.7141	0.77655	1.0:0.0:0.0:0.0	.	1872	Q6P2Q9	PRP8_HUMAN	R	1872;397	ENSP00000304350:L1872R	ENSP00000304350:L1872R	L	-	2	0	PRPF8	1506696	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	9.339000	0.96797	2.112000	0.64535	0.533000	0.62120	CTG		0.552	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			24	40	24	40	---	---	---	---
XAF1	54739	broad.mit.edu	37	17	6673970	6673970	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:6673970T>C	ENST00000361842.3	+	6	755	c.516T>C	c.(514-516)tgT>tgC	p.C172C	XAF1_ENST00000346752.4_Silent_p.C153C|XAF1_ENST00000441631.1_Silent_p.C172C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	172					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C172C(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGTAAATGTTGTCCAGACT	0.348																																						ENST00000361842.3																			1	Substitution - coding silent(1)	p.C172C(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(514-516)tgT>tgC		XIAP associated factor 1							59.0	63.0	62.0					17																	6673970		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6673970T>C	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.516T>C	17.37:g.6673970T>C			Somatic				XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C	p.C172C	NM_017523.3	NP_059993.2	WXS	Illumina GAIIx	Phase_I	Q6GPH4	XAF1_HUMAN			6	755	+			172					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.516T>C	CCDS11080.1																																																																																				0.348	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		7	187	7	187	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A	rs377217606		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:61958402G>A	ENST00000423893.2	-	3	339	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000332800.7_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M			P01242	SOM2_HUMAN	growth hormone 2	93					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572																																						ENST00000332800.7																			6	Substitution - Missense(6)	p.T93M(6)	prostate(2)|lung(2)|breast(2)	breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(277-279)aCg>aTg		growth hormone 2		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	153.0	160.0	158.0		278,233,278,278	0.3	0.1	17		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GH2	NM_002059.3,NM_022556.2,NM_022557.2,NM_022558.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	93/218,78/203,93/257,93/246	61958402	1,13005	2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958402G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.278C>T	17.37:g.61958402G>A	ENSP00000409294:p.Thr93Met		Somatic				GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M	p.T93M	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	WXS	Illumina GAIIx	Phase_I	P01242	SOM2_HUMAN			3	411	-			93					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.278C>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	5.894	0.349068	0.11182	0.0	1.16E-4	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.89681	-2.55;-2.55;-2.21;-2.21	2.5	0.343	0.16001	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.336814	0.31438	N	0.007657	D	0.91778	0.7399	M	0.76328	2.33	0.22424	N	0.99911	D;D;D;D;D	0.89917	1.0;1.0;0.988;1.0;1.0	D;D;P;D;D	0.97110	0.983;0.999;0.782;1.0;0.983	T	0.83275	-0.0041	10	0.62326	D	0.03	.	5.8652	0.18771	0.1254:0.1933:0.6813:0.0	.	93;78;93;93;93	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	M	93;93;93;78	ENSP00000333157:T93M;ENSP00000394122:T93M;ENSP00000409294:T93M;ENSP00000410618:T78M	ENSP00000333157:T93M	T	-	2	0	GH2	59312134	1.000000	0.71417	0.140000	0.22221	0.000000	0.00434	3.793000	0.55484	-0.021000	0.14009	-2.069000	0.00389	ACG		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		82	364	82	364	---	---	---	---
S1PR2	9294	broad.mit.edu	37	19	10335297	10335297	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:10335297A>T	ENST00000590320.1	-	2	395	c.285T>A	c.(283-285)tcT>tcA	p.S95S	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	95					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S95S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGTGACAGAGCCAGAGA	0.612																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			1	Substitution - coding silent(1)	p.S95S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(283-285)tcT>tcA		sphingosine-1-phosphate receptor 2							36.0	35.0	35.0					19																	10335297		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335297A>T	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.285T>A	19.37:g.10335297A>T			Somatic					p.S95S	NM_004230.3	NP_004221.3	WXS	Illumina GAIIx	Phase_I	O95136	S1PR2_HUMAN			2	395	-			95					Q86UN8	Silent	SNP	ENST00000590320.1	37	c.285T>A	CCDS12229.1																																																																																				0.612	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		9	42	9	42	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:54803046G>C	ENST00000251390.3	-	4	722	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	LILRA3_ENST00000391745.1_Missense_Mutation_p.P228A|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	211	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P211A(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCACTGGGTAGAGACCAC	0.617																																						ENST00000391745.1																			1	Substitution - Missense(1)	p.P211A(1)	prostate(1)	NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(682-684)Ccc>Gcc		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							112.0	97.0	102.0					19																	54803046		2194	4159	6353	SO:0001583	missense	11026							g.chr19:54803046G>C	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.631C>G	19.37:g.54803046G>C	ENSP00000251390:p.Pro211Ala		Somatic				LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A|LILRA3_ENST00000391744.3_Intron	p.P228A			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	8	998	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.682C>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683467	0.29872	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00824	5.65;5.65	2.21	1.11	0.20524	Immunoglobulin-like fold (1);	0.466390	0.18344	N	0.144083	T	0.05364	0.0142	H	0.94620	3.56	0.09310	N	1	D	0.63046	0.992	P	0.60068	0.868	T	0.08764	-1.0706	10	0.62326	D	0.03	.	6.6883	0.23158	0.0:0.2983:0.7017:0.0	.	211	Q8N6C8	LIRA3_HUMAN	A	211;228	ENSP00000251390:P211A;ENSP00000375625:P228A	ENSP00000251390:P211A	P	-	1	0	LILRA3	59494858	0.019000	0.18553	0.004000	0.12327	0.009000	0.06853	0.616000	0.24344	0.487000	0.27698	0.586000	0.80456	CCC		0.617	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	77	4	77	---	---	---	---
MT-ND2	4536	broad.mit.edu	37	M	2817	2817	+	5'Flank	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrM:2817G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ATTTCGGTTGGGGCGACCTCG	0.433																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2817G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2817G>A	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	1147	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		8	4	8	4	---	---	---	---
MT-ND1	4535	broad.mit.edu	37	M	3526	3526	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrM:3526G>A	ENST00000361390.2	+	1	220	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	MT-ND2_ENST00000361453.3_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TF_ENST00000387314.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	74					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTACATCACCGCCCCGACCT	0.542																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(220-222)Gcc>Acc		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3526G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.220G>A	M.37:g.3526G>A	ENSP00000354687:p.Ala74Thr		Somatic					p.A74T			WXS	Illumina GAIIx	Phase_I					1	220	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.220G>A																																																																																					0.542	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		6	19	6	19	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28387490	28387490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:28387490delC	ENST00000261609.7	-	76	11702	c.11594delG	c.(11593-11595)tgtfs	p.C3865fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCTCGGCACAGCAAGGCAG	0.547																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11593-11595)tgtfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							40.0	34.0	36.0					15																	28387490		2203	4297	6500	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28387490delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11594delG	15.37:g.28387490delC	ENSP00000261609:p.Cys3865fs		Somatic					p.C3865fs	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	76	11702	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3865						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.11594delG	CCDS10021.1																																																																																				0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	51	8	51	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	CAGGCTA	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:30732660_30732666delCAGGCTA	ENST00000262518.4	+	21	3789_3795	c.3404_3410delCAGGCTA	c.(3403-3411)ccaggctacfs	p.PGY1135fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1135	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGTGCCACCAGGCTACACCTTCCCT	0.623																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3403-3411)ccaggctacfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732660_30732666delCAGGCTA	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3404_3410delCAGGCTA	16.37:g.30732660_30732666delCAGGCTA	ENSP00000262518:p.Pro1135fs		Somatic				SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	p.PGY1135fs	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3789_3795	+			1135			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.3404_3410delCAGGCTA	CCDS10689.2																																																																																				0.623	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	202	10	202	---	---	---	---
C19orf53	28974	broad.mit.edu	37	19	13888971	13888971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:13888971delA	ENST00000588234.1	+	3	569	c.259delA	c.(259-261)aaafs	p.K87fs	C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	87										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGCCAAGAAGAAAGGGGCAGC	0.597																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(259-261)aaafs		chromosome 19 open reading frame 53							49.0	47.0	48.0					19																	13888971		2203	4300	6503	SO:0001589	frameshift_variant	28974							g.chr19:13888971delA	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.259delA	19.37:g.13888971delA	ENSP00000465432:p.Lys87fs		Somatic				C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	p.K87fs	NM_014047.2	NP_054766.1	WXS	Illumina GAIIx	Phase_I	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	569	+			87					B2R4J9	Frame_Shift_Del	DEL	ENST00000588234.1	37	c.259delA	CCDS12298.1																																																																																				0.597	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		26	66	26	66	---	---	---	---
