#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
CTDP1	9150	broad.mit.edu	37	18	77477556	77477556	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr18:77477556C>G	ENST00000299543.7	+	9	2237	c.2090C>G	c.(2089-2091)gCa>gGa	p.A697G	CTDP1_ENST00000075430.7_Missense_Mutation_p.A697G	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	697	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GTGCTGCAGGCACAGGAGTGC	0.672																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2089-2091)gCa>gGa		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1							70.0	71.0	71.0					18																	77477556		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77477556C>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2090C>G	18.37:g.77477556C>G	ENSP00000299543:p.Ala697Gly					CTDP1_ENST00000075430.7_Missense_Mutation_p.A697G	p.A697G	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	9	2237	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	697			BRCT.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2090C>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854708	0.32791	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	D;D	0.97455	-4.39;-4.39	5.09	5.09	0.68999	BRCT (3);	0.051063	0.85682	D	0.000000	D	0.97167	0.9074	M	0.84948	2.725	0.80722	D	1	B;B;B	0.31503	0.119;0.279;0.326	B;B;B	0.38562	0.112;0.181;0.276	D	0.97196	0.9861	10	0.51188	T	0.08	-32.5197	14.9321	0.70923	0.0:0.8565:0.1435:0.0	.	578;697;697	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	G	697	ENSP00000299543:A697G;ENSP00000075430:A697G	ENSP00000075430:A697G	A	+	2	0	CTDP1	75578544	0.999000	0.42202	0.990000	0.47175	0.356000	0.29392	3.886000	0.56190	2.355000	0.79922	0.563000	0.77884	GCA		0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		20	53	0	0	0	0.592651	0	20	53				
YARS	8565	broad.mit.edu	37	1	33252023	33252023	+	Silent	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:33252023T>C	ENST00000373477.4	-	8	1754	c.846A>G	c.(844-846)aaA>aaG	p.K282K		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	282					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCCACCCCATTTCTCATCTC	0.428																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(844-846)aaA>aaG		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						180.0	144.0	157.0					1																	33252023		2203	4300	6503	SO:0001819	synonymous_variant	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33252023T>C	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.846A>G	1.37:g.33252023T>C							p.K282K	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			8	1754	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	282					B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	c.846A>G	CCDS368.1																																																																																				0.428	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		14	37	0	0	0	0.500413	0	14	37				
RFX1	5989	broad.mit.edu	37	19	14088854	14088854	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:14088854G>C	ENST00000254325.4	-	8	1113	c.879C>G	c.(877-879)agC>agG	p.S293R		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	293					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ACTGCACCTGGCTGGAGTACA	0.652																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(877-879)agC>agG		regulatory factor X, 1 (influences HLA class II expression)							119.0	108.0	112.0					19																	14088854		2203	4300	6503	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14088854G>C		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.879C>G	19.37:g.14088854G>C	ENSP00000254325:p.Ser293Arg						p.S293R	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		8	1113	-			293						Missense_Mutation	SNP	ENST00000254325.4	37	c.879C>G	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915064	0.73098	.	.	ENSG00000132005	ENST00000254325	T	0.32272	1.46	4.51	3.47	0.39725	RFX1 transcription activation region (1);	0.414637	0.29152	N	0.012988	T	0.35068	0.0919	L	0.46157	1.445	0.39687	D	0.970997	P	0.37688	0.605	P	0.45712	0.491	T	0.25537	-1.0129	10	0.62326	D	0.03	-20.3219	11.4497	0.50145	0.0904:0.0:0.9096:0.0	.	293	P22670	RFX1_HUMAN	R	293	ENSP00000254325:S293R	ENSP00000254325:S293R	S	-	3	2	RFX1	13949854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.989000	0.49393	0.910000	0.36722	0.555000	0.69702	AGC		0.652	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		26	110	0	0	0	0.693898	0	26	110				
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	7	0	0	0	0.184627	0	3	7				
BCL7A	605	broad.mit.edu	37	12	122481898	122481898	+	Silent	SNP	C	C	T	rs111620654	byFrequency	TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr12:122481898C>T	ENST00000261822.4	+	4	584	c.378C>T	c.(376-378)gaC>gaT	p.D126D	BCL7A_ENST00000538010.1_Silent_p.D126D	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	126					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGCCCAGCGACGGCACCGAGG	0.642			T	MYC	BNHL								c|||	2	0.000399361	0.0	0.0	5008	,	,		17541	0.0		0.002	False		,,,				2504	0.0				GBM(17;197 467 16477 23242 44349)	ENST00000538010.1				Dom	yes		12	12q24.1	605	T	B-cell CLL/lymphoma 7A			L	MYC		BNHL		0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(376-378)gaC>gaT		B-cell CLL/lymphoma 7A		T	,	4,4402	8.1+/-20.4	0,4,2199	120.0	101.0	108.0		378,378	-10.7	0.0	12	dbSNP_132	108	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous	BCL7A	NM_001024808.1,NM_020993.3	,	0,12,6491	TT,TC,CC		0.093,0.0908,0.0923	,	126/211,126/232	122481898	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	605				negative regulation of transcription, DNA-dependent			g.chr12:122481898C>T	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.378C>T	12.37:g.122481898C>T						BCL7A_ENST00000261822.4_Silent_p.D126D	p.D126D	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)	4	3048	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		126					B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	ENST00000261822.4	37	c.378C>T	CCDS53841.1																																																																																				0.642	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			30	79	0	0	0	0.717897	0	30	79				
KIAA1715	80856	broad.mit.edu	37	2	176835534	176835534	+	Splice_Site	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr2:176835534T>C	ENST00000272748.4	-	6	564		c.e6-2		KIAA1715_ENST00000544803.1_Splice_Site|KIAA1715_ENST00000535310.1_Splice_Site	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715						blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATGCTTCATCTAGAAAGCAAG	0.234																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.e6-2		KIAA1715							11.0	12.0	12.0					2																	176835534		2059	4177	6236	SO:0001630	splice_region_variant	80856					integral to membrane	protein binding	g.chr2:176835534T>C	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.317-2A>G	2.37:g.176835534T>C						KIAA1715_ENST00000535310.1_Splice_Site|KIAA1715_ENST00000544803.1_Splice_Site		NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		6	564	-								B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Splice_Site	SNP	ENST00000272748.4	37		CCDS33332.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842033	0.71488	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8668	0.57944	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1715	176543780	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.332000	0.65911	1.983000	0.57843	0.482000	0.46254	.		0.234	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834	Intron	3	13	0	0	0	0.115264	0	3	13				
DMAP1	55929	broad.mit.edu	37	1	44685108	44685108	+	Missense_Mutation	SNP	C	C	A	rs369461221		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:44685108C>A	ENST00000372289.2	+	7	1200	c.937C>A	c.(937-939)Cca>Aca	p.P313T	DMAP1_ENST00000315913.5_Missense_Mutation_p.P313T|DMAP1_ENST00000361745.6_Missense_Mutation_p.P313T|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	313					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CATCAAGTTTCCAGACTTCAA	0.577																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(937-939)Cca>Aca		DNA methyltransferase 1 associated protein 1							91.0	77.0	82.0					1																	44685108		2203	4300	6503	SO:0001583	missense	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44685108C>A	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.937C>A	1.37:g.44685108C>A	ENSP00000361363:p.Pro313Thr					DMAP1_ENST00000315913.5_Missense_Mutation_p.P313T|DMAP1_ENST00000361745.6_Missense_Mutation_p.P313T|DMAP1_ENST00000488433.1_3'UTR	p.P313T	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			7	1200	+	Acute lymphoblastic leukemia(166;0.155)		313					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	c.937C>A	CCDS509.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331032	0.81690	.	.	ENSG00000178028	ENST00000361745;ENST00000315913;ENST00000372289	.	.	.	4.33	4.33	0.51752	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.66939	2.045	0.80722	D	1	P;D	0.54397	0.941;0.966	P;P	0.56343	0.723;0.796	T	0.67534	-0.5646	9	0.16420	T	0.52	-17.1501	17.3607	0.87349	0.0:1.0:0.0:0.0	.	303;313	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	T	313	.	ENSP00000312697:P313T	P	+	1	0	DMAP1	44457695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.286000	0.78671	2.420000	0.82092	0.491000	0.48974	CCA		0.577	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		13	19	1	0	3.27435e-08	0.457914	3.5169e-08	13	19				
ATP1A1	476	broad.mit.edu	37	1	116937892	116937892	+	Silent	SNP	A	A	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:116937892A>T	ENST00000295598.5	+	13	2073	c.1821A>T	c.(1819-1821)cgA>cgT	p.R607R	ATP1A1_ENST00000537345.1_Silent_p.R607R|ATP1A1_ENST00000369496.4_Silent_p.R576R	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	607					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAAATGTCGAAGTGCTGGAA	0.522																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1819-1821)cgA>cgT		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						105.0	98.0	100.0					1																	116937892		2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116937892A>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1821A>T	1.37:g.116937892A>T						ATP1A1_ENST00000295598.5_Silent_p.R607R|ATP1A1_ENST00000369496.4_Silent_p.R576R	p.R607R	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	13	2184	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	607					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.1821A>T	CCDS887.1																																																																																				0.522	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		19	60	0	0	0	0.575678	0	19	60				
NDOR1	27158	broad.mit.edu	37	9	140110192	140110192	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr9:140110192G>A	ENST00000344894.5	+	11	1453	c.1370G>A	c.(1369-1371)gGg>gAg	p.G457E	NDOR1_ENST00000458322.2_Missense_Mutation_p.G450E|NDOR1_ENST00000371521.4_Missense_Mutation_p.G457E|NDOR1_ENST00000427047.2_Missense_Mutation_p.G423E	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ATCATGGTGGGGCCTGGCACT	0.667																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1369-1371)gGg>gAg		NADPH dependent diflavin oxidoreductase 1							39.0	44.0	42.0					9																	140110192		2202	4300	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110192G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1370G>A	9.37:g.140110192G>A	ENSP00000343344:p.Gly457Glu					NDOR1_ENST00000427047.2_Missense_Mutation_p.G423E|NDOR1_ENST00000344894.5_Missense_Mutation_p.G457E|NDOR1_ENST00000458322.2_Missense_Mutation_p.G450E	p.G457E	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1453	+	all_cancers(76;0.0926)		457						Missense_Mutation	SNP	ENST00000344894.5	37	c.1370G>A	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713967	0.68730	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	D;D;D;D	0.88201	-1.69;-2.35;-1.69;-1.69	4.68	4.68	0.58851	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.054814	0.64402	D	0.000001	D	0.97077	0.9045	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98750	1.0720	10	0.87932	D	0	-10.1613	15.0955	0.72232	0.0:0.0:1.0:0.0	.	450;423;457;457	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	E	450;423;457;457	ENSP00000389905:G450E;ENSP00000394309:G423E;ENSP00000360576:G457E;ENSP00000343344:G457E	ENSP00000343344:G457E	G	+	2	0	NDOR1	139230013	1.000000	0.71417	0.968000	0.41197	0.231000	0.25187	5.004000	0.63966	2.153000	0.67306	0.561000	0.74099	GGG		0.667	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		4	72	0	0	0	0.150653	0	4	72				
SYNE3	161176	broad.mit.edu	37	14	95910939	95910939	+	Silent	SNP	A	A	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr14:95910939A>G	ENST00000334258.5	-	9	1673	c.1659T>C	c.(1657-1659)ttT>ttC	p.F553F	SYNE3_ENST00000553340.1_Silent_p.F553F|SYNE3_ENST00000557275.1_Silent_p.F553F|SYNE3_ENST00000554873.1_Silent_p.F310F	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	553					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						AAGCTGCTCCAAAGTCTTTGT	0.582																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1657-1659)ttT>ttC		spectrin repeat containing, nuclear envelope family member 3							52.0	51.0	51.0					14																	95910939		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95910939A>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1659T>C	14.37:g.95910939A>G						SYNE3_ENST00000553340.1_Silent_p.F553F|SYNE3_ENST00000557275.1_Silent_p.F553F|SYNE3_ENST00000554873.1_Silent_p.F310F	p.F553F	NM_152592.3	NP_689805.3					9	1673	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1659T>C	CCDS9935.1																																																																																				0.582	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		11	54	0	0	0	0.411799	0	11	54				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							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			6	75	0	0	0	0.217242	0	6	75				
SNX29	92017	broad.mit.edu	37	16	12145807	12145807	+	Missense_Mutation	SNP	G	G	T	rs140388401		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr16:12145807G>T	ENST00000566228.1	+	8	921	c.852G>T	c.(850-852)aaG>aaT	p.K284N	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	284						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTTTAAAAAGACACCTGGGG	0.483																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(850-852)aaG>aaT		sorting nexin 29							73.0	82.0	79.0					16																	12145807		2197	4300	6497	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12145807G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.852G>T	16.37:g.12145807G>T	ENSP00000456480:p.Lys284Asn						p.K284N	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			8	921	+			256			PX.		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.852G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228262	0.58777	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	4.96	0.65561	.	0.184982	0.47093	D	0.000259	T	0.64538	0.2607	L	0.57536	1.79	0.80722	D	1	.	.	.	.	.	.	T	0.62845	-0.6768	7	0.34782	T	0.22	-12.0985	13.6023	0.62026	0.0746:0.0:0.9254:0.0	.	.	.	.	N	284	.	ENSP00000268271:K284N	K	+	3	2	RUNDC2A	12053308	1.000000	0.71417	0.313000	0.25210	0.289000	0.27227	4.066000	0.57520	1.514000	0.48869	0.462000	0.41574	AAG		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			31	137	1	0	2.08457e-15	0.750413	2.3251e-15	31	137				
KCNJ1	3758	broad.mit.edu	37	11	128709679	128709679	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr11:128709679A>C	ENST00000392664.2	-	2	633	c.517T>G	c.(517-519)Ttc>Gtc	p.F173V	KCNJ1_ENST00000324036.3_Missense_Mutation_p.F154V|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F154V|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F154V|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F154V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	173					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CCACACATGAAAGAATTGATT	0.453																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(460-462)Ttc>Gtc		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						74.0	74.0	74.0					11																	128709679		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709679A>C	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.517T>G	11.37:g.128709679A>C	ENSP00000376432:p.Phe173Val					KCNJ1_ENST00000440599.2_Missense_Mutation_p.F154V|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F154V|KCNJ1_ENST00000392664.2_Missense_Mutation_p.F173V|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F154V	p.F154V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	604	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	173					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.460T>G	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289669	0.80914	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.98	5.98	0.97165	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97201	0.9864	10	0.56958	D	0.05	.	16.4684	0.84092	1.0:0.0:0.0:0.0	.	173	P48048	IRK1_HUMAN	V	154;154;154;154;173	ENSP00000376433:F154V;ENSP00000376434:F154V;ENSP00000406320:F154V;ENSP00000316233:F154V;ENSP00000376432:F173V	ENSP00000316233:F154V	F	-	1	0	KCNJ1	128214889	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.339000	0.96797	2.289000	0.77006	0.460000	0.39030	TTC		0.453	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		28	70	0	0	0	0.706142	0	28	70				
ANK3	288	broad.mit.edu	37	10	61832058	61832058	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr10:61832058T>G	ENST00000280772.2	-	37	8772	c.8581A>C	c.(8581-8583)Act>Cct	p.T2861P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2861					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATTGTTAGTGGCTCCCGAA	0.413																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8581-8583)Act>Cct		ankyrin 3, node of Ranvier (ankyrin G)							72.0	78.0	76.0					10																	61832058		2201	4299	6500	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832058T>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8581A>C	10.37:g.61832058T>G	ENSP00000280772:p.Thr2861Pro					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.T2861P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8772	-			2861					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8581A>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	8.895	0.954920	0.18431	.	.	ENSG00000151150	ENST00000280772	T	0.63913	-0.07	5.73	0.53	0.17102	.	0.904110	0.09150	N	0.841741	T	0.37625	0.1010	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	10	0.30078	T	0.28	.	1.7119	0.02893	0.1448:0.2157:0.1067:0.5328	.	2861	Q12955	ANK3_HUMAN	P	2861	ENSP00000280772:T2861P	ENSP00000280772:T2861P	T	-	1	0	ANK3	61502064	0.137000	0.22531	0.995000	0.50966	0.989000	0.77384	0.000000	0.12993	0.118000	0.18165	0.454000	0.30748	ACT		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		25	82	0	0	0	0.667858	0	25	82				
TOM1L1	10040	broad.mit.edu	37	17	53026926	53026926	+	Silent	SNP	A	A	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr17:53026926A>G	ENST00000575882.1	+	13	1583	c.1230A>G	c.(1228-1230)caA>caG	p.Q410Q	COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000445275.2_Silent_p.Q399Q|TOM1L1_ENST00000348161.4_Silent_p.Q333Q|TOM1L1_ENST00000536554.1_Silent_p.Q333Q|TOM1L1_ENST00000540336.1_Silent_p.Q298Q|TOM1L1_ENST00000572158.1_Silent_p.Q403Q	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	410					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTAGTCTACAAACCATTGCAG	0.388																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(1228-1230)caA>caG		target of myb1 (chicken)-like 1							142.0	138.0	140.0					17																	53026926		2203	4300	6503	SO:0001819	synonymous_variant	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53026926A>G	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1230A>G	17.37:g.53026926A>G						TOM1L1_ENST00000348161.4_Silent_p.Q333Q|TOM1L1_ENST00000445275.2_Silent_p.Q399Q|TOM1L1_ENST00000572158.1_Silent_p.Q403Q|TOM1L1_ENST00000536554.1_Silent_p.Q333Q|TOM1L1_ENST00000540336.1_Silent_p.Q298Q	p.Q410Q	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			13	1583	+			410					Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	c.1230A>G	CCDS11582.1																																																																																				0.388	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		12	61	0	0	0	0.411799	0	12	61				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							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			6	77	0	0	0	0.217242	0	6	77				
OR8B3	390271	broad.mit.edu	37	11	124266451	124266451	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr11:124266451G>A	ENST00000354597.3	-	1	813	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGCTCCATAGATCCAGAAGA	0.408																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(796-798)tCt>tTt		olfactory receptor, family 8, subfamily B, member 3							44.0	50.0	48.0					11																	124266451		2199	4295	6494	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266451G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.797C>T	11.37:g.124266451G>A	ENSP00000346611:p.Ser266Phe						p.S266F	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	813	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	266					Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.797C>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	6.483	0.457206	0.12342	.	.	ENSG00000196661	ENST00000354597	T	0.00245	8.45	3.76	0.756	0.18421	GPCR, rhodopsin-like superfamily (1);	0.107328	0.42420	D	0.000706	T	0.00210	0.0006	L	0.49513	1.565	0.09310	N	1	P	0.35872	0.525	B	0.44163	0.443	T	0.33369	-0.9871	10	0.72032	D	0.01	.	6.3666	0.21457	0.1718:0.154:0.6742:0.0	.	266	Q8NGG8	OR8B3_HUMAN	F	266	ENSP00000346611:S266F	ENSP00000346611:S266F	S	-	2	0	OR8B3	123771661	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.293000	0.08320	0.167000	0.19631	0.650000	0.86243	TCT		0.408	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		8	102	0	0	0	0.387290	0	8	102				
SUGP2	10147	broad.mit.edu	37	19	19121013	19121013	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:19121013G>A	ENST00000601879.1	-	5	2286	c.1989C>T	c.(1987-1989)taC>taT	p.Y663Y	SUGP2_ENST00000452918.2_Silent_p.Y663Y|SUGP2_ENST00000456085.2_Silent_p.Y432Y|SUGP2_ENST00000600377.1_Silent_p.Y677Y|SUGP2_ENST00000337018.6_Silent_p.Y663Y			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	663					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCCCGGGAGTACAGCATGG	0.627																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1987-1989)taC>taT		SURP and G patch domain containing 2							109.0	110.0	109.0					19																	19121013		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19121013G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1989C>T	19.37:g.19121013G>A						SUGP2_ENST00000456085.2_Silent_p.Y432Y|SUGP2_ENST00000600377.1_Silent_p.Y677Y|SUGP2_ENST00000452918.2_Silent_p.Y663Y|SUGP2_ENST00000337018.6_Silent_p.Y663Y	p.Y663Y			Q8IX01	SUGP2_HUMAN			5	2286	-			663					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.1989C>T	CCDS12392.1																																																																																				0.627	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		31	193	0	0	0	0.740014	0	31	193				
PLEKHG3	26030	broad.mit.edu	37	14	65210037	65210037	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr14:65210037G>A	ENST00000394691.1	+	17	3423	c.3276G>A	c.(3274-3276)tcG>tcA	p.S1092S	PLEKHG3_ENST00000471182.2_Silent_p.S625S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Silent_p.S1036S|PLEKHG3_ENST00000484731.2_Silent_p.S597S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1092							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CACCTCTGTCGGGCAGGGTGG	0.736																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3106-3108)tcG>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							14.0	19.0	17.0					14																	65210037		2193	4286	6479	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65210037G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3276G>A	14.37:g.65210037G>A						PLEKHG3_ENST00000484731.2_Silent_p.S597S|PLEKHG3_ENST00000471182.2_Silent_p.S625S|PLEKHG3_ENST00000394691.1_Silent_p.S1092S|PLEKHG3_ENST00000492928.1_Intron	p.S1036S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3416	+			1092		R -> W (in dbSNP:rs229649).			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.3108G>A																																																																																					0.736	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		3	28	0	0	0	0.115264	0	3	28				
SLC16A1	6566	broad.mit.edu	37	1	113460112	113460112	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:113460112C>T	ENST00000538576.1	-	4	1747	c.916G>A	c.(916-918)Gct>Act	p.A306T	SLC16A1_ENST00000369626.3_Missense_Mutation_p.A306T|SLC16A1_ENST00000433570.4_Missense_Mutation_p.A306T	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	306					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TCAACAAAAGCCAGAATGGAA	0.433																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(916-918)Gct>Act		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						60.0	58.0	58.0					1																	113460112		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460112C>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.916G>A	1.37:g.113460112C>T	ENSP00000441065:p.Ala306Thr					SLC16A1_ENST00000433570.4_Missense_Mutation_p.A306T|SLC16A1_ENST00000369626.3_Missense_Mutation_p.A306T	p.A306T	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1747	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	306					Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.916G>A	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850135	0.91277	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.56	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.93420	3.415	0.80722	D	1	D;D	0.59357	0.985;0.973	D;D	0.65233	0.911;0.933	D	0.92909	0.6346	10	0.87932	D	0	.	15.5969	0.76590	0.1389:0.8611:0.0:0.0	.	306;306	Q49A45;P53985	.;MOT1_HUMAN	T	306	ENSP00000358640:A306T;ENSP00000441065:A306T;ENSP00000416167:A306T;ENSP00000445061:A306T	ENSP00000358640:A306T	A	-	1	0	SLC16A1	113261635	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.767000	0.85331	1.438000	0.47492	0.563000	0.77884	GCT		0.433	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		3	43	0	0	0	0.115264	0	3	43				
DDX55	57696	broad.mit.edu	37	12	124094530	124094530	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr12:124094530G>A	ENST00000238146.4	+	7	646	c.596G>A	c.(595-597)gGc>gAc	p.G199D	DDX55_ENST00000538744.1_Missense_Mutation_p.G199D	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	199	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGGAGAACAGGCCTTTTCTCT	0.547																																						ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(595-597)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							78.0	76.0	76.0					12																	124094530		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124094530G>A	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.596G>A	12.37:g.124094530G>A	ENSP00000238146:p.Gly199Asp					DDX55_ENST00000538744.1_Missense_Mutation_p.G199D	p.G199D	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	7	646	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		199			Helicase ATP-binding.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.596G>A	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459585	0.96240	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.15017	2.46;2.46	5.98	5.98	0.97165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.997;1.0	T	0.54846	-0.8232	10	0.72032	D	0.01	-28.0796	20.4366	0.99092	0.0:0.0:1.0:0.0	.	199;199;199	B4DVE4;Q8NHQ9;F5H5U2	.;DDX55_HUMAN;.	D	199	ENSP00000238146:G199D;ENSP00000443114:G199D	ENSP00000238146:G199D	G	+	2	0	DDX55	122660483	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.869000	0.99810	2.843000	0.97960	0.585000	0.79938	GGC		0.547	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			16	61	0	0	0	0.520397	0	16	61				
FOXD4	2298	broad.mit.edu	37	9	117355	117355	+	Silent	SNP	A	A	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr9:117355A>G	ENST00000382500.2	-	1	1062	c.765T>C	c.(763-765)ccT>ccC	p.P255P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	255	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCAGAGCGTAAGGGCGTCTCC	0.736																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(763-765)ccT>ccC		forkhead box D4							11.0	21.0	18.0					9																	117355		1361	2880	4241	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117355A>G	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.765T>C	9.37:g.117355A>G							p.P255P	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1062	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	255			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.765T>C	CCDS34975.1																																																																																				0.736	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		20	17	0	0	0	0.608945	0	20	17				
CCDC129	223075	broad.mit.edu	37	7	31682489	31682489	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr7:31682489T>C	ENST00000407970.3	+	11	1543	c.1505T>C	c.(1504-1506)aTg>aCg	p.M502T	CCDC129_ENST00000409210.1_Missense_Mutation_p.M410T|CCDC129_ENST00000451887.2_Missense_Mutation_p.M528T|CCDC129_ENST00000319386.3_Missense_Mutation_p.M354T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	502										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTATCTGTGATGGAGGAAGAG	0.542																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1060-1062)aTg>aCg		coiled-coil domain containing 129							110.0	109.0	110.0					7																	31682489		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682489T>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1505T>C	7.37:g.31682489T>C	ENSP00000384416:p.Met502Thr					CCDC129_ENST00000407970.3_Missense_Mutation_p.M502T|CCDC129_ENST00000451887.2_Missense_Mutation_p.M528T|CCDC129_ENST00000409210.1_Missense_Mutation_p.M410T	p.M354T			Q6ZRS4	CC129_HUMAN			11	2054	+			502					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1061T>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	10.69	1.419811	0.25552	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17691	2.26;2.53;2.52;2.27	5.85	-6.23	0.02052	.	1.066740	0.07295	N	0.873137	T	0.05960	0.0155	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.22800	0.075;0.001;0.001;0.018	B;B;B;B	0.18871	0.023;0.001;0.001;0.014	T	0.39881	-0.9592	10	0.15066	T	0.55	0.1349	0.5489	0.00659	0.4019:0.1489:0.2179:0.2313	.	528;512;502;354	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	354;502;528;512;410	ENSP00000313062:M354T;ENSP00000384416:M502T;ENSP00000395835:M528T;ENSP00000387214:M410T	ENSP00000313062:M354T	M	+	2	0	CCDC129	31649014	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.861000	0.04268	-0.737000	0.04824	0.477000	0.44152	ATG		0.542	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		29	124	0	0	0	0.740014	0	29	124				
ITSN1	6453	broad.mit.edu	37	21	35122607	35122607	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr21:35122607T>C	ENST00000381318.3	+	6	794	c.506T>C	c.(505-507)cTg>cCg	p.L169P	ITSN1_ENST00000399349.1_Missense_Mutation_p.L169P|ITSN1_ENST00000399352.1_Missense_Mutation_p.L169P|ITSN1_ENST00000399338.4_Missense_Mutation_p.L169P|ITSN1_ENST00000381285.4_Missense_Mutation_p.L169P|ITSN1_ENST00000399353.1_Missense_Mutation_p.L132P|ITSN1_ENST00000399367.3_Missense_Mutation_p.L169P|ITSN1_ENST00000381291.4_Missense_Mutation_p.L169P|ITSN1_ENST00000399326.3_Missense_Mutation_p.L169P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.L169P|ITSN1_ENST00000437442.2_Missense_Mutation_p.L169P|ITSN1_ENST00000379960.5_Missense_Mutation_p.L169P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	169					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATACAACCTCTGCCTGCATTT	0.453																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(505-507)cTg>cCg		intersectin 1 (SH3 domain protein)							97.0	89.0	92.0					21																	35122607		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122607T>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.506T>C	21.37:g.35122607T>C	ENSP00000370719:p.Leu169Pro					ITSN1_ENST00000399367.3_Missense_Mutation_p.L169P|ITSN1_ENST00000399353.1_Missense_Mutation_p.L132P|ITSN1_ENST00000379960.5_Missense_Mutation_p.L169P|ITSN1_ENST00000399352.1_Missense_Mutation_p.L169P|ITSN1_ENST00000399355.2_Missense_Mutation_p.L169P|ITSN1_ENST00000399326.3_Missense_Mutation_p.L169P|ITSN1_ENST00000399338.4_Missense_Mutation_p.L169P|ITSN1_ENST00000381291.4_Missense_Mutation_p.L169P|ITSN1_ENST00000399349.1_Missense_Mutation_p.L169P|ITSN1_ENST00000437442.2_Missense_Mutation_p.L169P|ITSN1_ENST00000381285.4_Missense_Mutation_p.L169P|AP000304.12_ENST00000429238.1_Intron	p.L169P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			6	794	+			169					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.506T>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736867	0.49045	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.21;0.71;0.78;0.71;0.82;1.23;0.76;1.11;1.78;0.78;1.8;1.8	5.2	5.2	0.72013	.	0.227223	0.37483	N	0.002068	T	0.65123	0.2661	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.69078	0.995;0.995;0.995;0.995;0.997;0.996;0.995;0.995;0.997;0.995	D;D;D;D;D;P;D;D;D;D	0.78314	0.979;0.979;0.979;0.979;0.991;0.903;0.979;0.979;0.991;0.979	T	0.68735	-0.5330	10	0.87932	D	0	.	15.0871	0.72162	0.0:0.0:0.0:1.0	.	132;132;132;169;169;169;169;169;169;132	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	P	132;169;169;169;169;169;169;169;169;169;169;169;169;169	ENSP00000382290:L132P;ENSP00000370719:L169P;ENSP00000370691:L169P;ENSP00000370685:L169P;ENSP00000382301:L169P;ENSP00000382289:L169P;ENSP00000382292:L169P;ENSP00000382286:L169P;ENSP00000382275:L169P;ENSP00000387377:L169P;ENSP00000382265:L169P;ENSP00000369294:L169P	ENSP00000369294:L169P	L	+	2	0	ITSN1	34044477	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.763000	0.68818	1.953000	0.56701	0.454000	0.30748	CTG		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		28	81	0	0	0	0.779181	0	28	81				
SDAD1	55153	broad.mit.edu	37	4	76882456	76882456	+	Missense_Mutation	SNP	T	T	C	rs369140120		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr4:76882456T>C	ENST00000356260.5	-	15	1305	c.1187A>G	c.(1186-1188)aAt>aGt	p.N396S	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	396				N -> S (in Ref. 1; CAH18368). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTATAGCATTGATTCTAGA	0.368																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1186-1188)aAt>aGt		SDA1 domain containing 1		T	SER/ASN	0,4406		0,0,2203	89.0	85.0	86.0		1187	5.2	1.0	4		86	3,8597	2.2+/-6.3	0,3,4297	no	missense	SDAD1	NM_018115.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	396/688	76882456	3,13003	2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76882456T>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1187A>G	4.37:g.76882456T>C	ENSP00000348596:p.Asn396Ser					SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S	p.N396S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	1305	-			396	N -> S (in Ref. 1; CAH18368).				Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1187A>G	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342451	0.81911	0.0	3.49E-4	ENSG00000198301	ENST00000356260;ENST00000395711	T;D	0.85629	2.73;-2.01	5.24	5.24	0.73138	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94039	0.8090	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95073	0.8206	10	0.62326	D	0.03	-29.1375	13.4081	0.60926	0.0:0.0:0.0:1.0	.	359;396	E7EW05;Q9NVU7	.;SDA1_HUMAN	S	396;359	ENSP00000348596:N396S;ENSP00000379061:N359S	ENSP00000348596:N396S	N	-	2	0	SDAD1	77101480	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.393000	0.79851	2.330000	0.79161	0.528000	0.53228	AAT		0.368	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		30	81	0	0	0	0.750413	0	30	81				
UTRN	7402	broad.mit.edu	37	6	144844257	144844257	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr6:144844257A>T	ENST00000367545.3	+	40	5839	c.5839A>T	c.(5839-5841)Aga>Tga	p.R1947*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1947					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CATTCAGATCAGAGATACACT	0.378																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5839-5841)Aga>Tga		utrophin							91.0	86.0	87.0					6																	144844257		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144844257A>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5839A>T	6.37:g.144844257A>T	ENSP00000356515:p.Arg1947*						p.R1947*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	40	5839	+		Ovarian(120;0.218)	1947					Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.5839A>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	46	12.720965	0.99691	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.65	1.39	0.22231	.	0.364495	0.23610	N	0.046351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6714	0.17725	0.2547:0.4152:0.3301:0.0	.	.	.	.	X	1947	.	ENSP00000356515:R1947X	R	+	1	2	UTRN	144885950	1.000000	0.71417	0.975000	0.42487	0.832000	0.47134	4.256000	0.58810	-0.057000	0.13199	0.482000	0.46254	AGA		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			17	56	0	0	0	0.557998	0	17	56				
DDR2	4921	broad.mit.edu	37	1	162740113	162740113	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:162740113G>A	ENST00000367922.3	+	13	1753	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DDR2_ENST00000367921.3_Missense_Mutation_p.D439N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	439					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATGCTGGATGATGAAATGAC	0.478																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(1315-1317)Gat>Aat		discoidin domain receptor tyrosine kinase 2							222.0	200.0	207.0					1																	162740113		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162740113G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1315G>A	1.37:g.162740113G>A	ENSP00000356899:p.Asp439Asn					DDR2_ENST00000367921.3_Missense_Mutation_p.D439N	p.D439N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		13	1753	+	all_hematologic(112;0.115)		439					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1315G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512363	0.96402	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	T;T;T	0.75260	-0.92;-0.92;-0.92	5.79	5.79	0.91817	.	0.044796	0.85682	D	0.000000	T	0.71264	0.3319	M	0.67953	2.075	0.38270	D	0.942131	P	0.49358	0.923	P	0.47470	0.548	T	0.68629	-0.5358	9	0.23891	T	0.37	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	439	Q16832	DDR2_HUMAN	N	439;439;49	ENSP00000356899:D439N;ENSP00000356898:D439N;ENSP00000417030:D49N	ENSP00000356898:D439N	D	+	1	0	DDR2	161006737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	2.733000	0.93635	0.655000	0.94253	GAT		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		18	147	0	0	0	0.557998	0	18	147				
PMS2	5395	broad.mit.edu	37	7	6042153	6042153	+	Silent	SNP	T	T	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr7:6042153T>A	ENST00000265849.7	-	5	573	c.468A>T	c.(466-468)acA>acT	p.T156T	PMS2_ENST00000382321.4_Silent_p.T156T|PMS2_ENST00000441476.2_Silent_p.T50T|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T156T|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	156					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCACGCTGACTGTGGTCCCTC	0.468			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(466-468)acA>acT	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							77.0	87.0	84.0					7																	6042153		2203	4300	6503	SO:0001819	synonymous_variant	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6042153T>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.468A>T	7.37:g.6042153T>A						PMS2_ENST00000382321.4_Silent_p.T156T|PMS2_ENST00000441476.2_Silent_p.T50T|PMS2_ENST00000406569.3_Silent_p.T156T|PMS2_ENST00000469652.1_Intron	p.T156T	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	5	573	-		Ovarian(82;0.0694)	156					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	c.468A>T	CCDS5343.1																																																																																				0.468	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		42	96	0	0	0	0.834066	0	42	96				
MYH8	4626	broad.mit.edu	37	17	10321989	10321989	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr17:10321989C>A	ENST00000403437.2	-	5	578	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	162	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGGCATTGTCAGAGATGGAG	0.517									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(484-486)Gac>Tac		myosin, heavy chain 8, skeletal muscle, perinatal							123.0	135.0	131.0					17																	10321989		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10321989C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.484G>T	17.37:g.10321989C>A	ENSP00000384330:p.Asp162Tyr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.D162Y	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			5	578	-			162			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.484G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101155	0.76983	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89123	-2.47	3.74	3.74	0.42951	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000497	D	0.97031	0.9030	H	0.99444	4.57	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98997	1.0810	10	0.87932	D	0	.	16.0535	0.80777	0.0:1.0:0.0:0.0	.	162	P13535	MYH8_HUMAN	Y	162	ENSP00000384330:D162Y	ENSP00000252173:D162Y	D	-	1	0	MYH8	10262714	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.518000	0.81795	2.090000	0.63153	0.591000	0.81541	GAC		0.517	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		57	135	1	0	4.66136e-34	0.870114	5.51753e-34	57	135				
LRP2	4036	broad.mit.edu	37	2	170062051	170062051	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr2:170062051G>A	ENST00000263816.3	-	41	7938	c.7653C>T	c.(7651-7653)gtC>gtT	p.V2551V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2551					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTGGGCATGACCAGACTGC	0.512																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7651-7653)gtC>gtT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						122.0	112.0	116.0					2																	170062051		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062051G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7653C>T	2.37:g.170062051G>A							p.V2551V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7938	-			2551					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7653C>T	CCDS2232.1																																																																																				0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	82	0	0	0	0.150653	0	4	82				
SLC1A5	6510	broad.mit.edu	37	19	47278897	47278897	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:47278897A>T	ENST00000542575.2	-	8	2124	c.1496T>A	c.(1495-1497)aTa>aAa	p.I499K	SLC1A5_ENST00000412532.2_Missense_Mutation_p.I271K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.I297K|SLC1A5_ENST00000594991.1_Missense_Mutation_p.I323K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	499					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTCACTTGTATCAACTCAGG	0.587																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1495-1497)aTa>aAa		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						155.0	143.0	147.0					19																	47278897		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278897A>T	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1496T>A	19.37:g.47278897A>T	ENSP00000444408:p.Ile499Lys					SLC1A5_ENST00000434726.2_Missense_Mutation_p.I297K|SLC1A5_ENST00000412532.2_Missense_Mutation_p.I271K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.I323K	p.I499K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2124	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	499					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1496T>A	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	0.856	-0.736797	0.03111	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.62941	0.75;-0.01;0.0	4.88	1.35	0.21983	.	1.485410	0.03592	N	0.231967	T	0.45915	0.1366	L	0.34521	1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.003	B;B;B	0.12156	0.004;0.007;0.007	T	0.21177	-1.0253	10	0.06099	T	0.92	-21.1762	4.5038	0.11878	0.5745:0.1648:0.2607:0.0	.	297;499;499	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	K	499;297;271;506	ENSP00000444408:I499K;ENSP00000406532:I297K;ENSP00000397924:I271K	ENSP00000303623:I506K	I	-	2	0	SLC1A5	51970737	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.218000	0.09240	0.318000	0.23185	0.449000	0.29647	ATA		0.587	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			43	172	0	0	0	0.847076	0	43	172				
SLC41A1	254428	broad.mit.edu	37	1	205767924	205767924	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:205767924G>A	ENST00000367137.3	-	6	1731	c.717C>T	c.(715-717)gtC>gtT	p.V239V	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCCAATGATGACTCCAATCA	0.537																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(715-717)gtC>gtT		solute carrier family 41 (magnesium transporter), member 1							96.0	93.0	94.0					1																	205767924		2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205767924G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.717C>T	1.37:g.205767924G>A						SLC41A1_ENST00000468057.1_5'UTR	p.V239V	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		6	1731	-	Breast(84;0.0799)		239					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.717C>T	CCDS30988.1																																																																																				0.537	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			28	73	0	0	0	0.729181	0	28	73				
KNSTRN	90417	broad.mit.edu	37	15	40682113	40682113	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr15:40682113G>T	ENST00000249776.8	+	6	783	c.668G>T	c.(667-669)aGc>aTc	p.S223I	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S223I|KNSTRN_ENST00000416151.2_Missense_Mutation_p.S223I|KNSTRN_ENST00000608100.1_Missense_Mutation_p.S145I	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		ATTTTGGAGAGCAAGGGCCTT	0.532																																						ENST00000416151.2																			0											c.(667-669)aGc>aTc		kinetochore-localized astrin/SPAG5 binding protein							122.0	128.0	126.0					15																	40682113		2030	4190	6220	SO:0001583	missense	90417							g.chr15:40682113G>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.668G>T	15.37:g.40682113G>T	ENSP00000249776:p.Ser223Ile					KNSTRN_ENST00000448395.2_Missense_Mutation_p.S223I|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S223I	p.S223I	NM_001142761.1	NP_001136233.1					6	783	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.668G>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017266	0.75161	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.40756	1.02;1.02;1.02	5.21	5.21	0.72293	.	0.253510	0.41823	D	0.000815	T	0.53351	0.1791	L	0.34521	1.04	0.39784	D	0.972338	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.56986	-0.7888	10	0.87932	D	0	-4.856	14.1201	0.65182	0.0:0.0:1.0:0.0	.	223;223;223	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	I	223	ENSP00000249776:S223I;ENSP00000391233:S223I;ENSP00000393001:S223I	ENSP00000249776:S223I	S	+	2	0	C15orf23	38469405	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.303000	0.51858	2.696000	0.92011	0.655000	0.94253	AGC		0.532	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		11	59	1	0	9.05144e-12	0.435327	9.90535e-12	11	59				
SLC39A7	7922	broad.mit.edu	37	6	33170811	33170811	+	Silent	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr6:33170811C>T	ENST00000374677.3	+	6	1438	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	RXRB_ENST00000413614.2_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.V355V	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	355					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAATGACTGTCCTGCTACATG	0.562																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1063-1065)gtC>gtT		solute carrier family 39 (zinc transporter), member 7							219.0	253.0	241.0					6																	33170811		1389	2612	4001	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170811C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1065C>T	6.37:g.33170811C>T						SLC39A7_ENST00000374675.3_Silent_p.V355V|SLC39A7_ENST00000463972.1_3'UTR	p.V355V	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			6	1438	+			355					B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.1065C>T	CCDS43453.1																																																																																				0.562	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		64	207	0	0	0	0.870114	0	64	207				
IGSF10	285313	broad.mit.edu	37	3	151166433	151166433	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr3:151166433T>A	ENST00000282466.3	-	4	1335	c.1336A>T	c.(1336-1338)Agt>Tgt	p.S446C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	446					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAATGTACTGAATGTGGTG	0.423																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1336-1338)Agt>Tgt		immunoglobulin superfamily, member 10							150.0	135.0	140.0					3																	151166433		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166433T>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1336A>T	3.37:g.151166433T>A	ENSP00000282466:p.Ser446Cys						p.S446C	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1335	-			446					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1336A>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246405	0.59103	.	.	ENSG00000152580	ENST00000282466	T	0.71817	-0.6	5.08	1.42	0.22433	.	0.111999	0.39407	N	0.001369	T	0.76709	0.4025	M	0.73598	2.24	0.31659	N	0.645843	D	0.69078	0.997	P	0.57283	0.817	T	0.77373	-0.2612	10	0.62326	D	0.03	.	8.5883	0.33670	0.0:0.2227:0.0:0.7773	.	446	Q6WRI0	IGS10_HUMAN	C	446	ENSP00000282466:S446C	ENSP00000282466:S446C	S	-	1	0	IGSF10	152649123	0.998000	0.40836	0.734000	0.30879	0.942000	0.58702	1.252000	0.32874	0.018000	0.15052	0.454000	0.30748	AGT		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		28	70	0	0	0	0.717897	0	28	70				
CCT8L2	150160	broad.mit.edu	37	22	17071901	17071901	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr22:17071901G>T	ENST00000359963.3	-	1	1799	c.1540C>A	c.(1540-1542)Ctc>Atc	p.L514I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	514					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAGTCACGAGCTGTAGCACC	0.498																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1540-1542)Ctc>Atc		chaperonin containing TCP1, subunit 8 (theta)-like 2							102.0	95.0	97.0					22																	17071901		2203	4297	6500	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071901G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1540C>A	22.37:g.17071901G>T	ENSP00000353048:p.Leu514Ile						p.L514I	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1799	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	514					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1540C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	4.979	0.181861	0.09495	.	.	ENSG00000198445	ENST00000359963	T	0.11930	2.73	1.98	1.98	0.26296	.	0.000000	0.34223	U	0.004156	T	0.10078	0.0247	L	0.27053	0.805	0.28059	N	0.933057	B	0.27013	0.166	B	0.41236	0.351	T	0.38908	-0.9639	10	0.02654	T	1	-16.4205	7.4423	0.27190	0.0:0.0:1.0:0.0	.	514	Q96SF2	TCPQM_HUMAN	I	514	ENSP00000353048:L514I	ENSP00000353048:L514I	L	-	1	0	CCT8L2	15451901	0.559000	0.26562	0.672000	0.29872	0.393000	0.30537	2.160000	0.42348	1.115000	0.41800	0.379000	0.24179	CTC		0.498	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			8	206	1	0	5.18039e-06	0.278610	5.46296e-06	8	206				
PRSS3P2	154754	broad.mit.edu	37	7	142482292	142482292	+	RNA	SNP	A	A	C	rs371485584		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr7:142482292A>C	ENST00000603901.1	+	0	672					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CCCAGAAGAGAAGGCCTGGAG	0.527																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482292A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482292A>C								NR_001296.3						0	672	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.527	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	35	0	0	0	0.387290	0	3	35				
LRRC2	79442	broad.mit.edu	37	3	46563140	46563140	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr3:46563140C>T	ENST00000395905.3	-	8	1330	c.938G>A	c.(937-939)aGc>aAc	p.S313N	LRRC2_ENST00000296144.3_Missense_Mutation_p.S313N	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	313										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTCCATAAGGCTTACAAATCT	0.358																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(937-939)aGc>aAc		leucine rich repeat containing 2							102.0	99.0	100.0					3																	46563140		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46563140C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.938G>A	3.37:g.46563140C>T	ENSP00000379241:p.Ser313Asn					LRRC2_ENST00000296144.3_Missense_Mutation_p.S313N	p.S313N	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	8	1330	-		Ovarian(412;0.0563)	313					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.938G>A	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	2.103	-0.405698	0.04832	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.23754	1.89;1.89	4.36	2.56	0.30785	.	0.308893	0.31507	N	0.007531	T	0.13970	0.0338	N	0.25332	0.735	0.25671	N	0.985898	B	0.06786	0.001	B	0.08055	0.003	T	0.25363	-1.0134	10	0.17832	T	0.49	.	6.1799	0.20465	0.0:0.6879:0.0:0.3121	.	313	Q9BYS8	LRRC2_HUMAN	N	313	ENSP00000379241:S313N;ENSP00000296144:S313N	ENSP00000296144:S313N	S	-	2	0	LRRC2	46538144	1.000000	0.71417	0.976000	0.42696	0.974000	0.67602	1.131000	0.31406	0.589000	0.29677	0.591000	0.81541	AGC		0.358	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			18	37	0	0	0	0.539581	0	18	37				
HOOK2	29911	broad.mit.edu	37	19	12881984	12881984	+	Silent	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:12881984C>T	ENST00000397668.3	-	9	823	c.750G>A	c.(748-750)gaG>gaA	p.E250E	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Silent_p.E250E	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	250	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGAAGTTCTCCTCCTGCAACT	0.672																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(748-750)gaG>gaA		hook microtubule-tethering protein 2							23.0	29.0	27.0					19																	12881984		2045	4207	6252	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12881984C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.750G>A	19.37:g.12881984C>T						HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.E250E	p.E250E	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			9	920	-			250			Sufficient for interaction with microtubules.		O60562	Silent	SNP	ENST00000397668.3	37	c.750G>A	CCDS42508.1																																																																																				0.672	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		8	13	0	0	0	0.278610	0	8	13				
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr6:102503431_102503432insA	ENST00000421544.1	+	15	3028_3029	c.2538_2539insA	c.(2539-2541)aaafs	p.K847fs	GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K798fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K771fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K847fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	847					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATACAAATCCAAAAAAAACGC	0.351																																						ENST00000369138.1																			2	Deletion - Frameshift(2)	p.N849fs*12(1)|p.N849fs*14(1)	lung(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2536-2541)tcaaaafs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503431_102503432insA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2546dupA	6.37:g.102503439_102503439dupA	ENSP00000397026:p.Lys847fs					GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs	p.SK846fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3028_3029	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	846					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	ENST00000421544.1	37	c.2538_2539insA	CCDS5048.1																																																																																				0.351	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	171						7	171	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650300	93650301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr14:93650300_93650301insG	ENST00000556883.1	-	2	771_772	c.287_288insC	c.(286-288)cctfs	p.P96fs	TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_Frame_Shift_Ins_p.P96fs|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	96					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tatctgggtcagggggcttaaa	0.475																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(286-288)cgafs		modulator of apoptosis 1																																				SO:0001589	frameshift_variant	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650300_93650301insG	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.288dupC	14.37:g.93650305_93650305dupG	ENSP00000451594:p.Pro96fs					MOAP1_ENST00000298894.4_Frame_Shift_Ins_p.R96fs	p.R96fs			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	771_772	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	96					B2RDF6|Q9H833|Q9HAS1	Frame_Shift_Ins	INS	ENST00000556883.1	37	c.287_288insC	CCDS9908.1																																																																																				0.475	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			49	138						49	138	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																						ENST00000568520.1																			0																																																			102723841							g.chr16:33365420delA																													16.37:g.33365420delA														0	249	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			4	9						4	9	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs113850871|rs144853314|rs10643219	byFrequency	TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748														2999	0.598842	0.8986	0.572	5008	,	,		6768	0.2688		0.5169	False		,,,				2504	0.637					ENST00000325421.4																			1	Insertion - In frame(1)	p.G366_Q367insG(1)	upper_aerodigestive_tract(1)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1096-1098)gca>gCGGca		zinc finger protein 579				1650,390		778,94,148						-1.7	0.9		dbSNP_132	2	2530,2524		968,594,965	no	coding	ZNF579	NM_152600.2		1746,688,1113	A1A1,A1R,RR		49.9406,19.1176,41.077				4180,2914				SO:0001652	inframe_insertion	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56089908_56089909insCCG	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1097_1098insCGG	19.37:g.56089908_56089909insCCG	ENSP00000320188:p.Gly366dup						p.366_366A>AA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1125_1126	-			366			Gly-rich.			In_Frame_Ins	INS	ENST00000325421.4	37	c.1097_1098insCGG	CCDS12927.1																																																																																				0.748	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		4	3						4	3	---	---	---	---
