#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VCAN	1462	broad.mit.edu	37	5	82849281	82849281	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:82849281C>T	ENST00000265077.3	+	11	10157	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.R457C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1444C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2211C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1396C|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R3198S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACGGGAATGCCGTCTGCAGGG	0.473																																						ENST00000265077.3																			1	Substitution - Missense(1)	p.R3198S(1)	lung(1)	NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9592-9594)Cgt>Tgt		versican							159.0	136.0	144.0					5																	82849281		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849281C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9592C>T	5.37:g.82849281C>T	ENSP00000265077:p.Arg3198Cys					VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R2211C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1396C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R457C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1444C	p.R3198C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	10157	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3198			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9592C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676137	0.96764	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000007	T	0.62048	0.2396	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;0.997;0.995;1.0	T	0.70927	-0.4739	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1444;457;2211;3198	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	C	3198;2211;1444;1396;457	ENSP00000265077:R3198C;ENSP00000340062:R2211C;ENSP00000342768:R1444C;ENSP00000425959:R1396C;ENSP00000421362:R457C	ENSP00000265077:R3198C	R	+	1	0	VCAN	82885037	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGT		0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		62	156	0	0	0	1	0	62	156				
TTK	7272	broad.mit.edu	37	6	80749925	80749925	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:80749925A>G	ENST00000369798.2	+	20	2431	c.2320A>G	c.(2320-2322)Agg>Ggg	p.R774G	TTK_ENST00000230510.3_Missense_Mutation_p.R773G|TTK_ENST00000509894.1_Missense_Mutation_p.R773G	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTGTTTAAAAAGGGACCCAAA	0.284																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2317-2319)Agg>Ggg		TTK protein kinase							57.0	63.0	61.0					6																	80749925		2199	4293	6492	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80749925A>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2320A>G	6.37:g.80749925A>G	ENSP00000358813:p.Arg774Gly					TTK_ENST00000369798.2_Missense_Mutation_p.R774G|TTK_ENST00000230510.3_Missense_Mutation_p.R773G	p.R773G			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	20	3146	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	774			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.2317A>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226989	0.58668	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74315	-0.83;-0.83;-0.83	5.32	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.46947	1.48	0.51767	D	0.999934	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.77856	-0.2432	10	0.87932	D	0	.	10.561	0.45146	0.8386:0.1614:0.0:0.0	.	774;773	P33981;A8K8U5	TTK_HUMAN;.	G	773;773;774	ENSP00000422936:R773G;ENSP00000230510:R773G;ENSP00000358813:R774G	ENSP00000230510:R773G	R	+	1	2	TTK	80806644	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	2.768000	0.47645	0.822000	0.34565	0.482000	0.46254	AGG		0.284	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			3	78	0	0	0	1	0	3	78				
IL20RA	53832	broad.mit.edu	37	6	137322781	137322781	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:137322781C>T	ENST00000316649.5	-	7	1811	c.1576G>A	c.(1576-1578)Gct>Act	p.A526T	IL20RA_ENST00000541547.1_Missense_Mutation_p.A477T|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.A415T	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	526					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGTCTGGAGCCGGCTCCTCA	0.527																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1243-1245)Gct>Act		interleukin 20 receptor, alpha							115.0	120.0	118.0					6																	137322781		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137322781C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1576G>A	6.37:g.137322781C>T	ENSP00000314976:p.Ala526Thr					IL20RA_ENST00000316649.5_Missense_Mutation_p.A526T|IL20RA_ENST00000541547.1_Missense_Mutation_p.A477T	p.A415T			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1829	-	Colorectal(23;0.24)		526					B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.1243G>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676632	0.47886	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.64260	0.17;1.64;-0.09	5.81	3.97	0.46021	.	0.673275	0.14821	N	0.296454	T	0.41994	0.1183	L	0.59436	1.845	0.09310	N	1	P;P	0.52316	0.484;0.952	B;B	0.43360	0.16;0.417	T	0.24440	-1.0160	10	0.46703	T	0.11	-10.1091	8.3273	0.32165	0.1537:0.7668:0.0:0.0796	.	415;526	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	T	526;415;477	ENSP00000314976:A526T;ENSP00000356722:A415T;ENSP00000437843:A477T	ENSP00000314976:A526T	A	-	1	0	IL20RA	137364474	0.012000	0.17670	0.097000	0.21041	0.036000	0.12997	1.007000	0.29860	1.461000	0.47929	0.655000	0.94253	GCT		0.527	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		5	193	0	0	0	1	0	5	193				
GRIN2A	2903	broad.mit.edu	37	16	9934822	9934822	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:9934822T>A	ENST00000396573.2	-	7	1777	c.1468A>T	c.(1468-1470)Aac>Tac	p.N490Y	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N490Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N490Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N333Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N490Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	490					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACACATTGTTAACTTTCTTG	0.443																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1468-1470)Aac>Tac		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						189.0	159.0	169.0					16																	9934822		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934822T>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1468A>T	16.37:g.9934822T>A	ENSP00000379818:p.Asn490Tyr					GRIN2A_ENST00000396575.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.N490Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N490Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N333Y	p.N490Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			7	1777	-			490					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1468A>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536294	0.85812	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.31	5.31	0.75309	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.044386	0.85682	D	0.000000	T	0.68824	0.3043	M	0.67517	2.055	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.99	D;D;P	0.69307	0.937;0.963;0.895	T	0.69680	-0.5080	9	.	.	.	.	14.4772	0.67554	0.0:0.0:0.0:1.0	.	333;490;490	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Y	490;490;333;490;490	ENSP00000379818:N490Y;ENSP00000385872:N490Y;ENSP00000441572:N333Y;ENSP00000332549:N490Y;ENSP00000379820:N490Y	.	N	-	1	0	GRIN2A	9842323	1.000000	0.71417	0.929000	0.37066	0.996000	0.88848	6.120000	0.71596	2.009000	0.58944	0.459000	0.35465	AAC		0.443	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			8	144	0	0	0	1	0	8	144				
REV1	51455	broad.mit.edu	37	2	100079071	100079071	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:100079071G>A	ENST00000258428.3	-	3	296	c.68C>T	c.(67-69)gCt>gTt	p.A23V	REV1_ENST00000393445.3_Missense_Mutation_p.A23V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	23					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACCTTGGCAGCCATATACCC	0.358								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(67-69)gCt>gTt	Direct reversal of damage	REV1, polymerase (DNA directed)							113.0	108.0	110.0					2																	100079071		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100079071G>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.68C>T	2.37:g.100079071G>A	ENSP00000258428:p.Ala23Val					REV1_ENST00000393445.3_Missense_Mutation_p.A23V	p.A23V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			3	296	-			23					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.68C>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980644	0.92982	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.31510	1.49;1.49	5.63	5.63	0.86233	BRCT (1);	0.047721	0.85682	D	0.000000	T	0.52370	0.1730	L	0.59436	1.845	0.58432	D	0.999999	D;B;B	0.63880	0.993;0.094;0.199	D;B;B	0.67382	0.951;0.024;0.097	T	0.44298	-0.9337	10	0.45353	T	0.12	.	18.4568	0.90724	0.0:0.0:1.0:0.0	.	2;23;23	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	V	23	ENSP00000377091:A23V;ENSP00000258428:A23V	ENSP00000258428:A23V	A	-	2	0	REV1	99445503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.768000	0.74980	2.642000	0.89623	0.655000	0.94253	GCT		0.358	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		8	194	0	0	0	1	0	8	194				
PARP12	64761	broad.mit.edu	37	7	139734111	139734111	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr7:139734111C>T	ENST00000263549.3	-	8	2218	c.1345G>A	c.(1345-1347)Gtc>Atc	p.V449I	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	449	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.			VQKNLVY -> MGGFGQH (in Ref. 4). {ECO:0000305}.		nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GTGCCATAGACCAGGTTTTTC	0.418																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1345-1347)Gtc>Atc		poly (ADP-ribose) polymerase family, member 12							67.0	62.0	64.0					7																	139734111		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139734111C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1345G>A	7.37:g.139734111C>T	ENSP00000263549:p.Val449Ile					PARP12_ENST00000470515.1_5'UTR	p.V449I	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			8	2218	-	Melanoma(164;0.0142)		449	VQKNLVY -> MGGFGQH (in Ref. 4).		WWE 2.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1345G>A	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330739	0.95733	.	.	ENSG00000059378	ENST00000263549;ENST00000489809	T;T	0.44881	1.56;0.91	5.84	-1.31	0.09230	WWE domain (1);	0.823455	0.11360	N	0.572006	T	0.28067	0.0692	L	0.38531	1.155	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22103	-1.0226	10	0.33141	T	0.24	.	7.0213	0.24916	0.128:0.3131:0.4837:0.0752	.	449	Q9H0J9	PAR12_HUMAN	I	449;87	ENSP00000263549:V449I;ENSP00000417606:V87I	ENSP00000263549:V449I	V	-	1	0	PARP12	139380580	0.000000	0.05858	0.198000	0.23420	0.994000	0.84299	-0.030000	0.12308	0.081000	0.16988	0.555000	0.69702	GTC		0.418	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		12	27	0	0	0	1	0	12	27				
TNFAIP6	7130	broad.mit.edu	37	2	152226605	152226605	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:152226605G>A	ENST00000243347.3	+	4	541	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AAATGAGTACGAAGATAACCA	0.388																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(466-468)Gaa>Aaa		tumor necrosis factor, alpha-induced protein 6							153.0	153.0	153.0					2																	152226605		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152226605G>A		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.466G>A	2.37:g.152226605G>A	ENSP00000243347:p.Glu156Lys						p.E156K	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	541	+			156			CUB.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.466G>A	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466654	0.26335	.	.	ENSG00000123610	ENST00000243347	T	0.28069	1.63	5.49	5.49	0.81192	CUB (5);	0.268996	0.41823	D	0.000805	T	0.26122	0.0637	N	0.17872	0.535	0.42002	D	0.990891	B	0.21309	0.054	B	0.23716	0.048	T	0.05338	-1.0891	10	0.54805	T	0.06	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	156	P98066	TSG6_HUMAN	K	156	ENSP00000243347:E156K	ENSP00000243347:E156K	E	+	1	0	TNFAIP6	151934851	1.000000	0.71417	0.961000	0.40146	0.863000	0.49368	4.803000	0.62546	2.563000	0.86464	0.555000	0.69702	GAA		0.388	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		10	126	0	0	0	1	0	10	126				
NUP88	4927	broad.mit.edu	37	17	5312118	5312118	+	Silent	SNP	T	T	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:5312118T>A	ENST00000573584.1	-	5	1301	c.792A>T	c.(790-792)gcA>gcT	p.A264A		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	264					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ACAGTGGGTATGCCACTACTT	0.448																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(790-792)gcA>gcT		nucleoporin 88kDa							149.0	129.0	135.0					17																	5312118		2203	4300	6503	SO:0001819	synonymous_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5312118T>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.792A>T	17.37:g.5312118T>A							p.A264A	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			5	1301	-			264					D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	c.792A>T	CCDS11070.1																																																																																				0.448	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		26	82	0	0	0	1	0	26	82				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1390-1392)cAt>cGt		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1940	+			464					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			4	91	0	0	0	1	0	4	91				
TMC6	11322	broad.mit.edu	37	17	76109646	76109646	+	Silent	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:76109646C>T	ENST00000590602.1	-	19	2496	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	TMC6_ENST00000322914.3_Silent_p.E779E|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000392467.3_Silent_p.E779E|TMC6_ENST00000591436.1_Silent_p.E358E|TNRC6C-AS1_ENST00000589217.1_RNA|TMC6_ENST00000306591.7_Silent_p.E428E|TMC6_ENST00000322933.4_Silent_p.E358E			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	779					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCTCCTCCCTCTCCTTCCTCT	0.567																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(2335-2337)gaG>gaA		transmembrane channel-like 6							131.0	115.0	120.0					17																	76109646		2203	4300	6503	SO:0001819	synonymous_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76109646C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2337G>A	17.37:g.76109646C>T						TMC6_ENST00000591436.1_Silent_p.E358E|TMC6_ENST00000392467.3_Silent_p.E779E|TMC6_ENST00000322914.3_Silent_p.E779E|TMC6_ENST00000322933.4_Silent_p.E358E|TMC6_ENST00000306591.7_Silent_p.E428E|TMC6_ENST00000592076.1_5'UTR	p.E779E			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		19	2496	-			779					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.2337G>A	CCDS32748.1																																																																																				0.567	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			19	104	0	0	0	1	0	19	104				
RHAG	6005	broad.mit.edu	37	6	49583402	49583402	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:49583402G>T	ENST00000371175.4	-	4	601	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	RHAG_ENST00000229810.7_Missense_Mutation_p.S192Y	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	192					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCAGTCCAGATCGATACAA	0.453																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(574-576)tCt>tAt		Rh-associated glycoprotein							142.0	129.0	134.0					6																	49583402		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49583402G>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.575C>A	6.37:g.49583402G>T	ENSP00000360217:p.Ser192Tyr					RHAG_ENST00000229810.7_Missense_Mutation_p.S192Y	p.S192Y	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			4	601	-	Lung NSC(77;0.0255)		192					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.575C>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289487	0.40494	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23950	1.88;1.88	5.76	4.89	0.63831	Ammonium transporter AmtB-like (3);	0.347849	0.38058	N	0.001824	T	0.22820	0.0551	M	0.66939	2.045	0.09310	N	1	P;B;B	0.38535	0.635;0.407;0.407	B;B;B	0.43916	0.436;0.436;0.436	T	0.08659	-1.0711	10	0.87932	D	0	-0.0281	15.9539	0.79865	0.0:0.1351:0.8649:0.0	.	192;192;192	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	Y	192	ENSP00000360217:S192Y;ENSP00000229810:S192Y	ENSP00000229810:S192Y	S	-	2	0	RHAG	49691361	0.999000	0.42202	0.004000	0.12327	0.053000	0.15095	7.579000	0.82511	1.432000	0.47375	0.655000	0.94253	TCT		0.453	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			48	79	1	0	2.74695e-27	1	2.84869e-27	48	79				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	65	0	0	0	1	0	3	65				
TEX14	56155	broad.mit.edu	37	17	56690826	56690826	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:56690826C>T	ENST00000240361.8	-	9	1064	c.979G>A	c.(979-981)Gag>Aag	p.E327K	TEX14_ENST00000349033.5_Missense_Mutation_p.E321K|TEX14_ENST00000389934.3_Missense_Mutation_p.E321K			Q8IWB6	TEX14_HUMAN	testis expressed 14	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.E321K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGATGCGCTCGTACACAAGG	0.502																																						ENST00000389934.3																			1	Substitution - Missense(1)	p.E321K(1)	stomach(1)	breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(961-963)Gag>Aag		testis expressed 14							179.0	150.0	160.0					17																	56690826		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56690826C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.979G>A	17.37:g.56690826C>T	ENSP00000240361:p.Glu327Lys					TEX14_ENST00000240361.8_Missense_Mutation_p.E327K|TEX14_ENST00000349033.5_Missense_Mutation_p.E321K	p.E321K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			9	1078	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		327		K -> E (in a gastric adenocarcinoma sample; somatic mutation).	Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.961G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288759	0.59976	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.61158	0.13;0.13;0.13	5.68	4.7	0.59300	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172514	0.40469	N	0.001096	T	0.80093	0.4560	M	0.89785	3.06	0.44366	D	0.997262	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.994;0.994	D	0.84932	0.0860	10	0.87932	D	0	-16.3205	15.2735	0.73723	0.0:0.859:0.141:0.0	.	327;321;321	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	K	327;321;321	ENSP00000240361:E327K;ENSP00000374584:E321K;ENSP00000268910:E321K	ENSP00000240361:E327K	E	-	1	0	TEX14	54045825	0.992000	0.36948	0.870000	0.34147	0.013000	0.08279	3.030000	0.49720	1.372000	0.46190	0.561000	0.74099	GAG		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			8	148	0	0	0	1	0	8	148				
CACNG5	27091	broad.mit.edu	37	17	64880891	64880891	+	Intron	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:64880891A>G	ENST00000533854.1	+	5	807				CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000169565.3_Missense_Mutation_p.D228G			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGACCCCGGACCACCCACTC	0.602																																						ENST00000169565.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(682-684)gAc>gGc		calcium channel, voltage-dependent, gamma subunit 5							108.0	93.0	98.0					17																	64880891		2203	4300	6503	SO:0001627	intron_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64880891A>G	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+113A>G	17.37:g.64880891A>G						CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron	p.D228G			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	683	+			0	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.683A>G	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	A	1.953	-0.440744	0.04636	.	.	ENSG00000075429	ENST00000169565	T	0.55413	0.52	2.54	-5.08	0.02929	.	0.508271	0.20677	N	0.087724	T	0.37999	0.1024	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32052	-0.9921	6	.	.	.	-7.8005	8.0116	0.30357	0.2055:0.4499:0.3447:0.0	.	.	.	.	G	228	ENSP00000169565:D228G	.	D	+	2	0	CACNG5	62311353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.081000	0.14823	-3.737000	0.00113	-1.300000	0.01332	GAC		0.602	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		51	101	0	0	0	1	0	51	101				
HTRA3	94031	broad.mit.edu	37	4	8293208	8293208	+	Missense_Mutation	SNP	G	G	A	rs369645804		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:8293208G>A	ENST00000307358.2	+	4	1024	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	HTRA3_ENST00000382512.3_Missense_Mutation_p.V274I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	274	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AACGGGCATCGTCAGCACTGC	0.632																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(820-822)Gtc>Atc		HtrA serine peptidase 3							58.0	53.0	55.0					4																	8293208		2203	4299	6502	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8293208G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.820G>A	4.37:g.8293208G>A	ENSP00000303766:p.Val274Ile					HTRA3_ENST00000382512.3_Missense_Mutation_p.V274I	p.V274I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			4	1024	+			274			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.820G>A	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	g	19.93	3.917294	0.73098	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.89617	-2.54;-2.54	4.19	4.19	0.49359	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000001	D	0.90219	0.6942	N	0.25647	0.755	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.81914	0.897;0.995	D	0.90000	0.4114	10	0.36615	T	0.2	-7.1994	16.5492	0.84464	0.0:0.0:1.0:0.0	.	274;274	P83110;P83110-2	HTRA3_HUMAN;.	I	274	ENSP00000303766:V274I;ENSP00000371952:V274I	ENSP00000303766:V274I	V	+	1	0	HTRA3	8344108	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.311000	0.78958	1.911000	0.55334	0.454000	0.30748	GTC		0.632	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		24	44	0	0	0	1	0	24	44				
PVR	5817	broad.mit.edu	37	19	45162043	45162043	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:45162043G>A	ENST00000425690.3	+	6	1324	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	PVR_ENST00000344956.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Intron|PVR_ENST00000406449.4_Missense_Mutation_p.R342H	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	342					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	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)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCATATCCCGTAACGCCATC	0.468																																						ENST00000425690.3																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(1024-1026)cGt>cAt		poliovirus receptor							167.0	155.0	159.0					19																	45162043		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45162043G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1025G>A	19.37:g.45162043G>A	ENSP00000402060:p.Arg342His					PVR_ENST00000344956.4_Intron|PVR_ENST00000406449.4_Missense_Mutation_p.R342H|PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA	p.R342H	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	6	1324	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	342					B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.1025G>A	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467115	0.04476	.	.	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.87650	-2.25;-2.28	2.85	-5.7	0.02421	.	9.596360	0.00616	U	0.000432	T	0.70535	0.3235	N	0.22421	0.69	0.09310	N	1	B;P	0.35714	0.0;0.517	B;B	0.29353	0.0;0.101	T	0.67440	-0.5670	10	0.19147	T	0.46	.	0.2158	0.00162	0.3367:0.1446:0.233:0.2858	.	342;342	P15151-4;P15151	.;PVR_HUMAN	H	342	ENSP00000402060:R342H;ENSP00000383907:R342H	ENSP00000383907:R342H	R	+	2	0	PVR	49853883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.469000	0.00460	-2.561000	0.00473	-1.102000	0.02115	CGT		0.468	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		3	81	0	0	0	1	0	3	81				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	130	0	0	0	1	0	4	130				
MAS1L	116511	broad.mit.edu	37	6	29454624	29454624	+	Silent	SNP	G	G	A	rs148359929	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:29454624G>A	ENST00000377127.3	-	1	1114	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	352					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCATTGGGTCGATGCCAGCTG	0.517													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17553	0.0		0.0	False		,,,				2504	0.0				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(1054-1056)atC>atT		MAS1 oncogene-like		G		20,4386	27.2+/-55.0	0,20,2183	175.0	168.0	170.0		1056	-1.4	0.0	6	dbSNP_134	170	0,8600		0,0,4300	no	coding-synonymous	MAS1L	NM_052967.1		0,20,6483	AA,AG,GG		0.0,0.4539,0.1538		352/379	29454624	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454624G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1056C>T	6.37:g.29454624G>A							p.I352I	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1114	-			352					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.1056C>T	CCDS4661.1																																																																																				0.517	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		87	121	0	0	0	1	0	87	121				
KCNB2	9312	broad.mit.edu	37	8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCCCAGGACGCGCCTGGGGAA	0.542																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(178-180)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 2							66.0	68.0	67.0					8																	73480147		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480147C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.178C>T	8.37:g.73480147C>T	ENSP00000430846:p.Arg60Cys						p.R60C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	766	+	Breast(64;0.137)		60					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.178C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048690	0.75846	.	.	ENSG00000182674	ENST00000523207	T	0.78481	-1.18	5.71	4.84	0.62591	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.90703	0.7083	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91904	0.5534	9	0.87932	D	0	.	9.6813	0.40072	0.1398:0.7897:0.0:0.0705	.	60	Q92953	KCNB2_HUMAN	C	60	ENSP00000430846:R60C	ENSP00000430846:R60C	R	+	1	0	KCNB2	73642701	0.996000	0.38824	0.635000	0.29338	0.985000	0.73830	3.471000	0.53107	1.432000	0.47375	0.655000	0.94253	CGC		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		12	109	0	0	0	1	0	12	109				
HYAL3	8372	broad.mit.edu	37	3	50332974	50332974	+	Silent	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:50332974G>A	ENST00000336307.1	-	2	332	c.60C>T	c.(58-60)ggC>ggT	p.G20G	HYAL3_ENST00000359051.3_Silent_p.G20G|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000450982.1_Silent_p.G20G|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	20					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGGGGCTGGCCACAACCCA	0.627																																						ENST00000336307.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(58-60)ggC>ggT		hyaluronoglucosaminidase 3							30.0	31.0	31.0					3																	50332974		2156	4194	6350	SO:0001819	synonymous_variant	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332974G>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.60C>T	3.37:g.50332974G>A						HYAL3_ENST00000450982.1_Silent_p.G20G|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Silent_p.G20G|HYAL3_ENST00000513170.1_Intron	p.G20G	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	332	-			20					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	c.60C>T	CCDS2815.1																																																																																				0.627	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		3	33	0	0	0	1	0	3	33				
RBM26	64062	broad.mit.edu	37	13	79945160	79945160	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr13:79945160C>T	ENST00000438737.2	-	5	994	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	RBM26_ENST00000438724.1_Missense_Mutation_p.R185Q|RBM26_ENST00000267229.7_Missense_Mutation_p.R185Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	185	Arg-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACTCCAACTTCGACTTCGACT	0.453																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(553-555)cGa>cAa		RNA binding motif protein 26							158.0	159.0	159.0					13																	79945160		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79945160C>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.554G>A	13.37:g.79945160C>T	ENSP00000387531:p.Arg185Gln					RBM26_ENST00000438724.1_Missense_Mutation_p.R185Q|RBM26_ENST00000267229.7_Missense_Mutation_p.R185Q	p.R185Q			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	5	994	-		Acute lymphoblastic leukemia(28;0.0279)	185			Arg-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.554G>A		.	.	.	.	.	.	.	.	.	.	C	17.34	3.366076	0.61513	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.10573	2.86;2.86	5.07	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	L	0.50333	1.59	0.80722	D	1	D;P;D	0.54772	0.968;0.947;0.968	B;B;B	0.44108	0.441;0.256;0.441	T	0.03103	-1.1072	9	.	.	.	-1.4474	15.5912	0.76530	0.0:0.8619:0.1381:0.0	.	185;185;185	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	Q	185;186;185;185	ENSP00000267229:R185Q;ENSP00000390222:R185Q	.	R	-	2	0	RBM26	78843161	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.387000	0.79785	1.137000	0.42214	0.557000	0.71058	CGA		0.453	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		9	142	0	0	0	1	0	9	142				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	86	0	0	0	1	0	32	86				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	65	0	0	0	1	0	3	65				
PCDHB5	26167	broad.mit.edu	37	5	140516689	140516689	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:140516689C>T	ENST00000231134.5	+	1	1890	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACTCGCCCTTCGTGCTG	0.716																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1672-1674)cCc>cTc									28.0	33.0	31.0					5																	140516689		2199	4294	6493	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516689C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1673C>T	5.37:g.140516689C>T	ENSP00000231134:p.Pro558Leu						p.P558L	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1890	+			558			Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1673C>T	CCDS4247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.10|17.10	3.301970|3.301970	0.60195|0.60195	.|.	.|.	ENSG00000113209|ENSG00000113209	ENST00000231134|ENST00000537936	T|.	0.72394|.	-0.65|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.90484|0.90484	0.7019|0.7019	H|H	0.98682|0.98682	4.3|4.3	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94596|0.94596	0.7792|0.7792	9|6	0.87932|0.87932	D|D	0|0	.|.	17.4339|17.4339	0.87546|0.87546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	558|.	Q9Y5E4|.	PCDB5_HUMAN|.	L|S	558|342	ENSP00000231134:P558L|.	ENSP00000231134:P558L|ENSP00000446220:P342S	P|P	+|+	2|1	0|0	PCDHB5|PCDHB5	140496873|140496873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.544000|0.544000	0.35116|0.35116	7.666000|7.666000	0.83877|0.83877	2.195000|2.195000	0.70347|0.70347	0.194000|0.194000	0.17425|0.17425	CCC|CCT		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		8	34	0	0	0	1	0	8	34				
EPHA4	2043	broad.mit.edu	37	2	222321395	222321395	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:222321395C>T	ENST00000281821.2	-	7	1582	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	EPHA4_ENST00000409938.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R463Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	514	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCTGGCTCGCACGTGGAA	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1540-1542)cGa>cAa		EPH receptor A4							140.0	124.0	129.0					2																	222321395		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222321395C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1541G>A	2.37:g.222321395C>T	ENSP00000281821:p.Arg514Gln					EPHA4_ENST00000409854.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000409938.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R463Q	p.R514Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	7	1582	-		Renal(207;0.0183)	514			Fibronectin type-III 2.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1541G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260587	0.95368	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73733	-0.3890	10	0.46703	T	0.11	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	514	P54764	EPHA4_HUMAN	Q	514;514;514;463	ENSP00000281821:R514Q;ENSP00000386276:R514Q;ENSP00000386829:R514Q;ENSP00000375923:R463Q	ENSP00000281821:R514Q	R	-	2	0	EPHA4	222029639	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	CGA		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			13	92	0	0	0	1	0	13	92				
CIC	23152	broad.mit.edu	37	19	42791796	42791796	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791796C>T	ENST00000575354.2	+	5	722	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	CIC_ENST00000572681.2_Missense_Mutation_p.R1137W|CIC_ENST00000160740.3_Missense_Mutation_p.R228W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGACAACCGGACCGTCAG	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3409-3411)Cgg>Tgg		capicua transcriptional repressor							81.0	75.0	77.0					19																	42791796		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791796C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.682C>T	19.37:g.42791796C>T	ENSP00000458663:p.Arg228Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R228W|CIC_ENST00000575354.2_Missense_Mutation_p.R228W	p.R1137W			Q96RK0	CIC_HUMAN			6	3477	+		Prostate(69;0.00682)	228			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3409C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820231	0.50633	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.34	0.38264	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.80325	0.4602	M	0.88640	2.97	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.83021	-0.0167	8	0.87932	D	0	-14.5772	11.3477	0.49569	0.1828:0.8172:0.0:0.0	.	228	Q96RK0	CIC_HUMAN	W	228	.	ENSP00000160740:R228W	R	+	1	2	CIC	47483636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.318000	0.43779	1.041000	0.40125	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			13	71	0	0	0	1	0	13	71				
GSTA3	2940	broad.mit.edu	37	6	52767170	52767170	+	Silent	SNP	G	G	A	rs147033582	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:52767170G>A	ENST00000211122.3	-	4	311	c.246C>T	c.(244-246)taC>taT	p.Y82Y	GSTA3_ENST00000370968.1_Silent_p.Y32Y	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	82	GST N-terminal.				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)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGTCTTTCCCGTAGAGGTTGT	0.448													g|||	2	0.000399361	0.0	0.0	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.002					ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(244-246)taC>taT		glutathione S-transferase alpha 3	Glutathione(DB00143)	G		0,4406		0,0,2203	207.0	204.0	205.0		246	-6.8	0.2	6	dbSNP_134	205	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GSTA3	NM_000847.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		82/223	52767170	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52767170G>A	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.246C>T	6.37:g.52767170G>A						GSTA3_ENST00000370968.1_Silent_p.Y32Y	p.Y82Y	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			4	311	-	Lung NSC(77;0.0912)		82			GST N-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Silent	SNP	ENST00000211122.3	37	c.246C>T	CCDS4947.1																																																																																				0.448	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			11	322	0	0	0	1	0	11	322				
PTER	9317	broad.mit.edu	37	10	16526578	16526578	+	Silent	SNP	T	T	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr10:16526578T>C	ENST00000378000.1	+	3	441	c.195T>C	c.(193-195)taT>taC	p.Y65Y	PTER_ENST00000298942.3_Silent_p.Y65Y|PTER_ENST00000423462.2_Silent_p.Y65Y|PTER_ENST00000535784.2_Silent_p.Y65Y	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	65					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAAACGCCTATTCCCATAAAG	0.403																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(193-195)taT>taC		phosphotriesterase related							66.0	73.0	70.0					10																	16526578		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526578T>C	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.195T>C	10.37:g.16526578T>C						PTER_ENST00000298942.3_Silent_p.Y65Y|PTER_ENST00000423462.2_Silent_p.Y65Y|PTER_ENST00000535784.2_Silent_p.Y65Y	p.Y65Y	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			3	441	+			65					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.195T>C	CCDS7111.1																																																																																				0.403	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		4	83	0	0	0	1	0	4	83				
ZBTB45	84878	broad.mit.edu	37	19	59028924	59028924	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:59028924A>C	ENST00000594051.1	-	2	597	c.117T>G	c.(115-117)atT>atG	p.I39M	ZBTB45_ENST00000600990.1_Missense_Mutation_p.I39M|ZBTB45_ENST00000354590.3_Missense_Mutation_p.I39M			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	39	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCTTCACGAATGCGCACAG	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(115-117)atT>atG		zinc finger and BTB domain containing 45							63.0	66.0	65.0					19																	59028924		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028924A>C	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.117T>G	19.37:g.59028924A>C	ENSP00000469089:p.Ile39Met		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Missense_Mutation_p.I39M|ZBTB45_ENST00000354590.3_Missense_Mutation_p.I39M	p.I39M			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	597	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	39			BTB.			Missense_Mutation	SNP	ENST00000594051.1	37	c.117T>G	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	a	14.46	2.541797	0.45280	.	.	ENSG00000119574	ENST00000354590	T	0.24538	1.85	3.92	-1.66	0.08265	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.080560	0.45867	U	0.000327	T	0.47154	0.1430	M	0.82823	2.61	0.28366	N	0.920234	D	0.76494	0.999	D	0.79108	0.992	T	0.44283	-0.9338	10	0.87932	D	0	.	10.3146	0.43729	0.2634:0.0:0.7366:0.0	.	39	Q96K62	ZBT45_HUMAN	M	39	ENSP00000346603:I39M	ENSP00000346603:I39M	I	-	3	3	ZBTB45	63720736	1.000000	0.71417	0.978000	0.43139	0.430000	0.31655	0.917000	0.28665	-0.182000	0.10602	0.254000	0.18369	ATT		0.602	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		7	43	0	0	0	1	0	7	43				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	124	0	0	0	1	0	5	124				
FRAS1	80144	broad.mit.edu	37	4	79421075	79421075	+	Splice_Site	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:79421075G>A	ENST00000264895.6	+	61	9756	c.9316G>A	c.(9316-9318)Ggt>Agt	p.G3106S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3102	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCAGTCCCGGTAATTGAAT	0.443																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.e61+1		Fraser syndrome 1							107.0	100.0	102.0					4																	79421075		1878	4130	6008	SO:0001630	splice_region_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79421075G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9316+1G>A	4.37:g.79421075G>A							p.G3106_splice	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			61	9756	+			3101			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000264895.6	37	c.9316_splice	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.452936|4.452936	0.84209|0.84209	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.43688|.	0.94|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.057345|.	0.64402|.	D|.	0.000001|.	D|D	0.82342|0.82342	0.5016|0.5016	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	B;D|.	0.76494|.	0.01;0.999|.	B;P|.	0.61477|.	0.002;0.889|.	T|T	0.81693|0.81693	-0.0817|-0.0817	10|5	0.72032|.	D|.	0.01|.	.|.	20.2983|20.2983	0.98569|0.98569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3105;3106|.	Q86XX4-2;E9PHH6|.	.;.|.	S|Q	3106|1334	ENSP00000264895:G3106S|.	ENSP00000264895:G3106S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79640099|79640099	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.150000|0.150000	0.21749|0.21749	9.727000|9.727000	0.98787|0.98787	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	18	177	0	0	0	1	0	18	177				
SRPRB	58477	broad.mit.edu	37	3	133524790	133524790	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:133524790C>T	ENST00000466490.2	+	2	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	33					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGCAGCAGACGGACCCAACG	0.672																																						ENST00000466490.2																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(97-99)aCg>aTg		signal recognition particle receptor, B subunit							52.0	52.0	52.0					3																	133524790		2203	4299	6502	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133524790C>T	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.98C>T	3.37:g.133524790C>T	ENSP00000418401:p.Thr33Met						p.T33M	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			2	383	+			33					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.98C>T	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417227	0.11870	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.44482	2.53;0.92	4.77	0.769	0.18492	.	0.558703	0.15047	U	0.283556	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B	0.24043	0.096	B	0.09377	0.004	T	0.13683	-1.0500	10	0.46703	T	0.11	-0.3916	8.3019	0.32019	0.1608:0.5007:0.3385:0.0	.	33	Q9Y5M8	SRPRB_HUMAN	M	33	ENSP00000418401:T33M;ENSP00000417096:T33M	ENSP00000418401:T33M	T	+	2	0	SRPRB	135007480	0.969000	0.33509	0.962000	0.40283	0.005000	0.04900	0.518000	0.22847	0.029000	0.15352	-0.181000	0.13052	ACG		0.672	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			5	103	0	0	0	1	0	5	103				
CCDC113	29070	broad.mit.edu	37	16	58296338	58296338	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:58296338A>G	ENST00000219299.4	+	6	756	c.677A>G	c.(676-678)aAg>aGg	p.K226R	CCDC113_ENST00000443128.2_Missense_Mutation_p.K172R	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	226						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGCAGTTGAAGATAGAGAAC	0.428																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(676-678)aAg>aGg		coiled-coil domain containing 113							173.0	154.0	161.0					16																	58296338		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58296338A>G	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.677A>G	16.37:g.58296338A>G	ENSP00000219299:p.Lys226Arg					CCDC113_ENST00000443128.2_Missense_Mutation_p.K172R	p.K226R	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			6	756	+			226					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.677A>G	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137551	0.56936	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.42131	1.05;0.98	5.49	5.49	0.81192	.	0.458723	0.22657	N	0.057246	T	0.41650	0.1168	L	0.56340	1.77	0.43172	D	0.994973	B;B	0.24258	0.056;0.1	B;B	0.26202	0.067;0.067	T	0.34875	-0.9811	10	0.54805	T	0.06	-18.4026	13.522	0.61574	1.0:0.0:0.0:0.0	.	172;226	B4DR20;Q9H0I3	.;CC113_HUMAN	R	172;226	ENSP00000402588:K172R;ENSP00000219299:K226R	ENSP00000219299:K226R	K	+	2	0	CCDC113	56853839	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	6.757000	0.74924	2.092000	0.63282	0.523000	0.50628	AAG		0.428	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		49	68	0	0	0	1	0	49	68				
DNAH5	1767	broad.mit.edu	37	5	13766101	13766101	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:13766101A>G	ENST00000265104.4	-	59	10189	c.10085T>C	c.(10084-10086)tTt>tCt	p.F3362S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3362	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCTGTAAAAAGTTCCCTGC	0.413									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10084-10086)tTt>tCt		dynein, axonemal, heavy chain 5							116.0	118.0	117.0					5																	13766101		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766101A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10085T>C	5.37:g.13766101A>G	ENSP00000265104:p.Phe3362Ser					DNAH5_ENST00000504001.3_Intron	p.F3362S	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			59	10189	-	Lung NSC(4;0.00476)		3362			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10085T>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525945	0.85600	.	.	ENSG00000039139	ENST00000265104	T	0.62105	0.05	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.101562	0.64402	D	0.000002	D	0.86644	0.5982	H	0.98155	4.16	0.80722	D	1	P	0.51933	0.949	D	0.67103	0.949	D	0.91506	0.5223	10	0.87932	D	0	.	15.8854	0.79244	1.0:0.0:0.0:0.0	.	3362	Q8TE73	DYH5_HUMAN	S	3362	ENSP00000265104:F3362S	ENSP00000265104:F3362S	F	-	2	0	DNAH5	13819101	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.093000	0.94163	2.150000	0.67090	0.456000	0.33151	TTT		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		65	97	0	0	0	1	0	65	97				
DCANP1	140947	broad.mit.edu	37	5	134782790	134782790	+	Silent	SNP	G	G	A	rs113239442		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:134782790G>A	ENST00000503143.2	-	1	248	c.9C>T	c.(7-9)taC>taT	p.Y3Y	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		3						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTGCTCCGTAATGCATAG	0.527																																						ENST00000503143.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(7-9)taC>taT		chromosome 5 open reading frame 20		G		0,4406		0,0,2203	44.0	46.0	46.0		9	-2.3	0.0	5	dbSNP_132	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf20	NM_130848.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3/245	134782790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140947					nucleus		g.chr5:134782790G>A																												ENST00000503143.2:c.9C>T	5.37:g.134782790G>A						TIFAB_ENST00000537858.1_3'UTR	p.Y3Y	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	248	-			3						Silent	SNP	ENST00000503143.2	37	c.9C>T	CCDS4186.1																																																																																				0.527	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			5	46	0	0	0	1	0	5	46				
DNAH9	1770	broad.mit.edu	37	17	11671916	11671916	+	Silent	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:11671916C>T	ENST00000262442.4	+	37	7385	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F	DNAH9_ENST00000454412.2_Silent_p.F2439F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2439					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCCAGTTCGAATTTGACC	0.542																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7315-7317)ttC>ttT		dynein, axonemal, heavy chain 9							79.0	69.0	72.0					17																	11671916		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11671916C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7317C>T	17.37:g.11671916C>T						DNAH9_ENST00000454412.2_Silent_p.F2439F	p.F2439F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	37	7385	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2439					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7317C>T	CCDS11160.1																																																																																				0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	117	0	0	0	1	0	5	117				
SLC26A9	115019	broad.mit.edu	37	1	205887977	205887977	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr1:205887977G>C	ENST00000367135.3	-	19	2360	c.2247C>G	c.(2245-2247)aaC>aaG	p.N749K	SLC26A9_ENST00000340781.4_Missense_Mutation_p.N749K|SLC26A9_ENST00000367134.2_Missense_Mutation_p.N749K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	749					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCCCTTGGAAGTTGTGTCCTG	0.502											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2245-2247)aaC>aaG		solute carrier family 26 (anion exchanger), member 9							220.0	209.0	213.0					1																	205887977		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205887977G>C	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2247C>G	1.37:g.205887977G>C	ENSP00000356103:p.Asn749Lys		OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_ENST00000340781.4_Missense_Mutation_p.N749K|SLC26A9_ENST00000367134.2_Missense_Mutation_p.N749K	p.N749K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2360	-	Breast(84;0.201)		749					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2247C>G	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	4.048	0.006662	0.07866	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92199	-2.99;-2.94;-2.99	5.09	3.18	0.36537	.	1.128120	0.06478	N	0.732393	D	0.85639	0.5743	N	0.19112	0.55	0.27462	N	0.953113	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.69120	-0.5229	10	0.15499	T	0.54	.	11.3883	0.49798	0.1641:0.0:0.8359:0.0	.	749;749	Q7LBE3;B1AVM8	S26A9_HUMAN;.	K	749	ENSP00000341682:N749K;ENSP00000356103:N749K;ENSP00000356102:N749K	ENSP00000341682:N749K	N	-	3	2	SLC26A9	204154600	0.956000	0.32656	0.597000	0.28824	0.020000	0.10135	1.540000	0.36115	0.655000	0.30866	-1.119000	0.02030	AAC		0.502	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		4	241	0	0	0	1	0	4	241				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	65	0	0	0	1	0	3	65				
CIC	23152	broad.mit.edu	37	19	42798848	42798848	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42798848G>C	ENST00000575354.2	+	19	4460	c.4420G>C	c.(4420-4422)Gtc>Ctc	p.V1474L	CIC_ENST00000572681.2_Missense_Mutation_p.V2380L|CIC_ENST00000160740.3_Missense_Mutation_p.V1472L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1474F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGGCCCTGGTCATGCAGCT	0.602			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.V1474F(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7138-7140)Gtc>Ctc		capicua transcriptional repressor							77.0	76.0	76.0					19																	42798848		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798848G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4420G>C	19.37:g.42798848G>C	ENSP00000458663:p.Val1474Leu					CIC_ENST00000160740.3_Missense_Mutation_p.V1472L|CIC_ENST00000575354.2_Missense_Mutation_p.V1474L	p.V2380L			Q96RK0	CIC_HUMAN			20	7206	+		Prostate(69;0.00682)	1474					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7138G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070783	0.76301	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	3.56	0.40772	.	.	.	.	.	T	0.60248	0.2254	L	0.29908	0.895	0.42164	D	0.991613	P	0.50156	0.932	P	0.61592	0.891	T	0.62623	-0.6815	8	0.87932	D	0	-24.5058	10.4757	0.44663	0.0982:0.0:0.9018:0.0	.	1474	Q96RK0	CIC_HUMAN	L	1474	.	ENSP00000160740:V1474L	V	+	1	0	CIC	47490688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.459000	0.66685	2.570000	0.86706	0.491000	0.48974	GTC		0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	61	0	0	0	1	0	5	61				
CRYBB2	1415	broad.mit.edu	37	22	25625545	25625545	+	Splice_Site	SNP	C	C	T	rs4049504	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr22:25625545C>T	ENST00000398215.2	+	5	620	c.449C>T	c.(448-450)aCg>aTg	p.T150M		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	150	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAGAGTGGCACGTAAGTGCGT	0.572													C|||	4	0.000798722	0.0008	0.0	5008	,	,		21535	0.002		0.0	False		,,,				2504	0.001					ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.e5+1		crystallin, beta B2							73.0	55.0	61.0					22																	25625545		2203	4300	6503	SO:0001630	splice_region_variant	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25625545C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.449+1C>T	22.37:g.25625545C>T							p.T150_splice	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			5	620	+			150			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Splice_Site	SNP	ENST00000398215.2	37	c.449_splice	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.113532	0.77210	.	.	ENSG00000244752	ENST00000398215	T	0.76186	-1.0	5.0	5.0	0.66597	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.048613	0.85682	D	0.000000	D	0.88426	0.6433	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.89423	0.3711	10	0.42905	T	0.14	.	17.3593	0.87345	0.0:1.0:0.0:0.0	rs4049504	150	P43320	CRBB2_HUMAN	M	150	ENSP00000381273:T150M	ENSP00000381273:T150M	T	+	2	0	CRYBB2	23955545	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.275000	0.58927	2.317000	0.78254	0.650000	0.86243	ACG		0.572	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496	Missense_Mutation	10	42	0	0	0	1	0	10	42				
QTRT1	81890	broad.mit.edu	37	19	10823935	10823935	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:10823935A>T	ENST00000250237.5	+	10	1211	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	401					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGTGGGAATCACACTGGGCTG	0.577																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1201-1203)Aca>Tca		queuine tRNA-ribosyltransferase 1							50.0	47.0	48.0					19																	10823935		2203	4299	6502	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823935A>T	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1201A>T	19.37:g.10823935A>T	ENSP00000250237:p.Thr401Ser						p.T401S	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		10	1211	+			401					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.1201A>T	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	A	5.068	0.198216	0.09652	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.34	0.777	0.18538	.	1.195700	0.06700	U	0.771268	T	0.18215	0.0437	N	0.16368	0.405	0.20074	N	0.999937	B	0.02656	0.0	B	0.01281	0.0	T	0.28038	-1.0056	9	0.10636	T	0.68	-1.8661	3.2896	0.06944	0.6423:0.137:0.0871:0.1336	.	401	Q9BXR0	TGT_HUMAN	S	401	.	ENSP00000250237:T401S	T	+	1	0	QTRT1	10684935	0.145000	0.22656	0.378000	0.26068	0.145000	0.21501	0.967000	0.29344	0.548000	0.28955	0.477000	0.44152	ACA		0.577	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		34	62	0	0	0	1	0	34	62				
FAM179B	23116	broad.mit.edu	37	14	45542633	45542633	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr14:45542633A>G	ENST00000361577.3	+	19	5246	c.5032A>G	c.(5032-5034)Aca>Gca	p.T1678A	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.T1731A	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1678										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACGAACAGCCACAGCTAAATT	0.418																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(5191-5193)Aca>Gca		family with sequence similarity 179, member B							124.0	124.0	124.0					14																	45542633		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45542633A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5032A>G	14.37:g.45542633A>G	ENSP00000355045:p.Thr1678Ala					FAM179B_ENST00000361577.3_Missense_Mutation_p.T1678A|FAM179B_ENST00000382233.2_3'UTR	p.T1731A			Q9Y4F4	F179B_HUMAN			20	5374	+			1678					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.5191A>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865038	0.71949	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.56941	2.03;0.43;3.41	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	L	0.43152	1.355	0.80722	D	1	P;D	0.89917	0.821;1.0	P;D	0.87578	0.651;0.998	T	0.61768	-0.6995	10	0.33940	T	0.23	-16.6603	14.332	0.66564	1.0:0.0:0.0:0.0	.	1731;1678	G3XAE9;Q9Y4F4	.;F179B_HUMAN	A	1678;1731;113	ENSP00000355045:T1678A;ENSP00000354917:T1731A;ENSP00000450465:T113A	ENSP00000354917:T1731A	T	+	1	0	FAM179B	44612383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.210000	0.71456	0.533000	0.62120	ACA		0.418	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		3	103	0	0	0	1	0	3	103				
ALDH1L1	10840	broad.mit.edu	37	3	125831636	125831636	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:125831636C>T	ENST00000393434.2	-	19	2519	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V724M|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V623M|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V734M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	724	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACTCTCCGCACGAACTCATCA	0.577																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2170-2172)Gtg>Atg		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						118.0	112.0	114.0					3																	125831636		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125831636C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2170G>A	3.37:g.125831636C>T	ENSP00000377083:p.Val724Met					ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V623M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V724M|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V734M	p.V724M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	19	2519	-			724			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2170G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247549	0.39697	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	4.37	4.37	0.52481	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.068449	0.56097	D	0.000025	D	0.86460	0.5938	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.979;0.987;0.948	D	0.88182	0.2871	10	0.87932	D	0	.	14.4325	0.67259	0.0:1.0:0.0:0.0	.	623;259;724	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	M	734;724;623;724	ENSP00000273450:V734M;ENSP00000420293:V724M;ENSP00000395881:V623M;ENSP00000377083:V724M	ENSP00000273450:V734M	V	-	1	0	ALDH1L1	127314326	1.000000	0.71417	0.993000	0.49108	0.278000	0.26855	2.257000	0.43240	2.261000	0.74972	0.313000	0.20887	GTG		0.577	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		9	126	0	0	0	1	0	9	126				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	107	0	0	0	1	0	4	107				
PTPN11	5781	broad.mit.edu	37	12	112888139	112888139	+	Missense_Mutation	SNP	C	C	G	rs397507503		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:112888139C>G	ENST00000351677.2	+	3	353	c.155C>G	c.(154-156)aCc>aGc	p.T52S	PTPN11_ENST00000392597.1_Missense_Mutation_p.T52S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	52	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.T52S(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGAGCTGTCACCCACATCAAG	0.433			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		2	Substitution - Missense(2)	p.T52S(2)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(154-156)aCc>aGc		protein tyrosine phosphatase, non-receptor type 11							121.0	115.0	117.0					12																	112888139		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888139C>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.155C>G	12.37:g.112888139C>G	ENSP00000340944:p.Thr52Ser					PTPN11_ENST00000392597.1_Missense_Mutation_p.T52S	p.T52S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			3	353	+			52			SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.155C>G	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597446	0.87055	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.88431	-2.38;-2.38	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	N	0.25825	0.765	0.80722	D	1	P;D	0.53745	0.926;0.962	P;P	0.56514	0.68;0.8	D	0.89566	0.3810	10	0.46703	T	0.11	.	19.6978	0.96034	0.0:1.0:0.0:0.0	.	52;52	Q06124-2;Q06124-3	.;.	S	52	ENSP00000376376:T52S;ENSP00000340944:T52S	ENSP00000340944:T52S	T	+	2	0	PTPN11	111372522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.481000	0.81124	2.649000	0.89929	0.650000	0.86243	ACC		0.433	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			50	80	0	0	0	1	0	50	80				
CIC	23152	broad.mit.edu	37	19	42791728	42791728	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791728A>G	ENST00000575354.2	+	5	654	c.614A>G	c.(613-615)aAt>aGt	p.N205S	CIC_ENST00000572681.2_Missense_Mutation_p.N1114S|CIC_ENST00000160740.3_Missense_Mutation_p.N205S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCCATGAATGCCTTCATG	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3340-3342)aAt>aGt		capicua transcriptional repressor							67.0	69.0	68.0					19																	42791728		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791728A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.614A>G	19.37:g.42791728A>G	ENSP00000458663:p.Asn205Ser					CIC_ENST00000160740.3_Missense_Mutation_p.N205S|CIC_ENST00000575354.2_Missense_Mutation_p.N205S	p.N1114S			Q96RK0	CIC_HUMAN			6	3409	+		Prostate(69;0.00682)	205			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3341A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827590	0.50845	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.71031	0.3292	M	0.62154	1.92	0.58432	D	0.999991	D	0.69078	0.997	D	0.80764	0.994	T	0.74259	-0.3723	8	0.87932	D	0	-10.4181	11.626	0.51145	1.0:0.0:0.0:0.0	.	205	Q96RK0	CIC_HUMAN	S	205	.	ENSP00000160740:N205S	N	+	2	0	CIC	47483568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AAT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	78	0	0	0	1	0	12	78				
MCPH1	79648	broad.mit.edu	37	8	6479212	6479212	+	Splice_Site	SNP	G	G	A			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:6479212G>A	ENST00000344683.5	+	13	2528	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|MCPH1_ENST00000521175.1_3'UTR	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	818	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGGGTCTTAGGTAAGAATCC	0.597																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.e13+1		microcephalin 1							66.0	75.0	72.0					8																	6479212		2070	4197	6267	SO:0001630	splice_region_variant	79648					microtubule organizing center		g.chr8:6479212G>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2452+1G>A	8.37:g.6479212G>A						MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000515608.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA	p.D818_splice	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	13	2528	+		Hepatocellular(245;0.0663)	818			BRCT 3.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Splice_Site	SNP	ENST00000344683.5	37	c.2452_splice	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292819	0.80914	.	.	ENSG00000147316	ENST00000344683	D	0.92699	-3.09	5.13	5.13	0.70059	BRCT (3);	0.139772	0.44902	D	0.000401	D	0.96303	0.8794	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96912	0.9668	10	0.87932	D	0	-10.4036	16.0819	0.81010	0.0:0.0:1.0:0.0	.	818	Q8NEM0	MCPH1_HUMAN	N	818	ENSP00000342924:D818N	ENSP00000342924:D818N	D	+	1	0	MCPH1	6466620	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	6.700000	0.74619	2.402000	0.81655	0.462000	0.41574	GAT		0.597	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	Missense_Mutation	11	122	0	0	0	1	0	11	122				
UHRF1BP1L	23074	broad.mit.edu	37	12	100502164	100502164	+	Splice_Site	SNP	C	C	T			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:100502164C>T	ENST00000279907.7	-	2	419	c.207G>A	c.(205-207)agG>agA	p.R69R	UHRF1BP1L_ENST00000356828.3_Splice_Site_p.R69R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	69										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAAGTCTCACCCTAATGGACG	0.338																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.e2+1		UHRF1 binding protein 1-like							96.0	91.0	92.0					12																	100502164		2203	4300	6503	SO:0001630	splice_region_variant	23074							g.chr12:100502164C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.207+1G>A	12.37:g.100502164C>T						UHRF1BP1L_ENST00000356828.3_Splice_Site_p.R69_splice	p.R69_splice	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			2	419	-			69					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Splice_Site	SNP	ENST00000279907.7	37	c.207_splice	CCDS31882.1																																																																																				0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	Silent	26	60	0	0	0	1	0	26	60				
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		2	4						2	4	---	---	---	---
ARL14EP	120534	broad.mit.edu	37	11	30352754	30352754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr11:30352754delA	ENST00000282032.3	+	2	474	c.259delA	c.(259-261)aaafs	p.K88fs		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	88				K -> KK (in Ref. 2; CAI46092). {ECO:0000305}.		cytoplasm (GO:0005737)											GAAATTAGCCAAAAAAAATTT	0.338																																						ENST00000282032.3																			0											c.(259-261)aafs		ADP-ribosylation factor-like 14 effector protein							93.0	93.0	93.0					11																	30352754		2202	4299	6501	SO:0001589	frameshift_variant	120534							g.chr11:30352754delA	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.259delA	11.37:g.30352754delA	ENSP00000282032:p.Lys88fs						p.K88fs	NM_152316.1	NP_689529.1					2	474	+								Q5HYH9	Frame_Shift_Del	DEL	ENST00000282032.3	37	c.259delA	CCDS7869.1																																																																																				0.338	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		7	179						7	179	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	8	221						8	221	---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125263027	125263028	+	3'UTR	INS	-	-	G			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:125263027_125263028insG	ENST00000415380.2	-	0	1881_1882				SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000339570.5_Frame_Shift_Ins_p.S503fs|SCARB1_ENST00000261693.6_3'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTGTGGGGCTGGGGGGCTGTC	0.683																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1504-1509)ccgcccfs		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)																																			SO:0001624	3_prime_UTR_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125263027_125263028insG	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.*98->C	12.37:g.125263033_125263033dupG						SCARB1_ENST00000415380.2_3'UTR|SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR	p.P503fs	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	12	1702_1703	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Frame_Shift_Ins	INS	ENST00000415380.2	37	c.1506_1507insC																																																																																					0.683	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		2	4						2	4	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)del		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001651	inframe_deletion	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465270_125465272delCTC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del						p.E168del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600_602	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	c.502_504delGAG	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		3	5						3	5	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-	rs199693415		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98							poly(A) RNA binding (GO:0044822)	p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647																																						ENST00000559313.1																			1	Deletion - Frameshift(1)	p.M99fs*3(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(292-294)ggfs		chromosome 15 open reading frame 52							81.0	90.0	87.0					15																	40631782		2125	4232	6357	SO:0001589	frameshift_variant	388115							g.chr15:40631782delC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.294delG	15.37:g.40631782delC	ENSP00000453969:p.Gly98fs						p.G98fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	3	309	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	98					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Del	DEL	ENST00000559313.1	37	c.294delG	CCDS10055.2																																																																																				0.647	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		10	267						10	267	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(112-114)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001303_27001305delGAG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.112_114delGAG	17.37:g.27001312_27001314delGAG	ENSP00000319104:p.Glu43del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			3	395_397	+	Lung NSC(42;0.00431)		43			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.112_114delGAG	CCDS32596.1																																																																																				0.453	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	100						7	100	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80173535	80173535	+	5'Flank	DEL	C	C	-	rs61581716	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:80173535delC	ENST00000389641.4	-	0	0				CCDC57_ENST00000392343.3_5'Flank|CCDC57_ENST00000392347.1_5'Flank|RP13-516M14.2_ENST00000581303.1_RNA			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			tccttccctgccccccacact	0.701													|||unknown(LONG_INSERTION)	2565	0.512181	0.5688	0.5375	5008	,	,		10887	0.5258		0.4235	False		,,,				2504	0.4949					ENST00000581303.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:80173535delC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396		17.37:g.80173535delC	Exception_encountered													0	1371	+								A6NP51|A8MQC7|Q8IWG2|Q8TER3	RNA	DEL	ENST00000389641.4	37																																																																																						0.701	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	5						4	5	---	---	---	---
