#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
TSC22D1	8848	broad.mit.edu	37	13	45008991	45008991	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr13:45008991G>A	ENST00000458659.2	-	3	3483	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.A69V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	998					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTCTCTGACCGCATACATCAA	0.403																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2992-2994)gCg>gTg		TSC22 domain family, member 1							104.0	113.0	110.0					13																	45008991		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45008991G>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2993C>T	13.37:g.45008991G>A	ENSP00000397435:p.Ala998Val					TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.A69V	p.A998V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	3	3483	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	998					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2993C>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136860	0.56936	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	T	0.72615	-0.67	5.72	4.88	0.63580	.	0.270367	0.26499	N	0.024037	D	0.82756	0.5106	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.976	D;B	0.91635	0.999;0.375	D	0.84620	0.0683	10	0.87932	D	0	.	12.5457	0.56197	0.0801:0.0:0.9199:0.0	.	998;69	Q15714;Q15714-2	T22D1_HUMAN;.	V	998;69	ENSP00000397435:A998V	ENSP00000261489:A69V	A	-	2	0	TSC22D1	43906991	1.000000	0.71417	0.992000	0.48379	0.654000	0.38779	9.869000	0.99810	1.437000	0.47472	-0.142000	0.14014	GCG		0.403	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		4	157	0	0	0	1	0	4	157				
KRBA2	124751	broad.mit.edu	37	17	8273090	8273090	+	Missense_Mutation	SNP	T	T	C			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:8273090T>C	ENST00000331336.2	-	2	846	c.841A>G	c.(841-843)Att>Gtt	p.I281V	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.I199V|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	281	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TAGTATAAAATGAACTTGAAC	0.423																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(595-597)Att>Gtt		KRAB-A domain containing 2							75.0	72.0	73.0					17																	8273090		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273090T>C	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.841A>G	17.37:g.8273090T>C	ENSP00000328017:p.Ile281Val					RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.I281V|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	p.I199V			Q6ZNG9	KRBA2_HUMAN			2	1426	-			281					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.595A>G	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	t	7.371	0.626784	0.14257	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.43294	0.95;0.95	2.96	1.88	0.25563	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.30008	0.0751	L	0.38531	1.155	0.22213	N	0.999281	B	0.33964	0.434	B	0.34093	0.175	T	0.23332	-1.0191	9	0.62326	D	0.03	.	4.8506	0.13535	0.0:0.1431:0.0:0.8569	.	281	Q6ZNG9	KRBA2_HUMAN	V	199;281	ENSP00000379565:I199V;ENSP00000328017:I281V	ENSP00000328017:I281V	I	-	1	0	KRBA2	8213815	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	3.061000	0.49963	0.550000	0.28991	0.528000	0.53228	ATT		0.423	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		46	51	0	0	0	1	0	46	51				
SIGLEC12	89858	broad.mit.edu	37	19	52001329	52001329	+	Missense_Mutation	SNP	T	T	A			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr19:52001329T>A	ENST00000291707.3	-	5	1403	c.1348A>T	c.(1348-1350)Aac>Tac	p.N450Y	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.N332Y	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	450	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTAGAGGGTTCTGAGCTCGG	0.592																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1348-1350)Aac>Tac		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							61.0	58.0	59.0					19																	52001329		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001329T>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1348A>T	19.37:g.52001329T>A	ENSP00000291707:p.Asn450Tyr					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.N332Y	p.N450Y	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1403	-		all_neural(266;0.0199)	450			Ig-like C2-type 2.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1348A>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860964	0.51482	.	.	ENSG00000254521	ENST00000291707	T	0.23552	1.9	1.23	-2.47	0.06442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.629214	0.12996	N	0.422058	T	0.56499	0.1989	H	0.99475	4.585	0.09310	N	1	P;P	0.50943	0.899;0.94	P;P	0.55222	0.771;0.688	T	0.51466	-0.8702	10	0.87932	D	0	.	5.7718	0.18257	0.0:0.0:0.6115:0.3885	.	450;332	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	Y	450	ENSP00000291707:N450Y	ENSP00000291707:N450Y	N	-	1	0	SIGLEC12	56693141	0.012000	0.17670	0.028000	0.17463	0.950000	0.60333	0.047000	0.14056	-0.796000	0.04456	0.324000	0.21423	AAC		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		20	53	0	0	0	1	0	20	53				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	127	0	0	0	1	0	6	127				
HOXD12	3238	broad.mit.edu	37	2	176964709	176964709	+	Silent	SNP	C	C	A	rs374059269		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr2:176964709C>A	ENST00000406506.2	+	1	252	c.180C>A	c.(178-180)ccC>ccA	p.P60P	HOXD12_ENST00000404162.2_Silent_p.P60P			P35452	HXD12_HUMAN	homeobox D12	60					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTGCGCCCCCGCGCAGCCTG	0.751																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(178-180)ccC>ccA		homeobox D12							7.0	8.0	8.0					2																	176964709		1539	3471	5010	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964709C>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.180C>A	2.37:g.176964709C>A						HOXD12_ENST00000404162.2_Silent_p.P60P	p.P60P			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	252	+			60					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.180C>A	CCDS46456.1																																																																																				0.751	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		3	45	1	0	0.014758	1	0.0163115	3	45				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	24	0	0	0	1	0	6	24				
LUZP4	51213	broad.mit.edu	37	X	114537972	114537972	+	Missense_Mutation	SNP	T	T	G			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:114537972T>G	ENST00000371920.3	+	3	338	c.331T>G	c.(331-333)Tta>Gta	p.L111V	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	111						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TGGGCAGCCTTTAATTGAGCA	0.318																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(331-333)Tta>Gta		leucine zipper protein 4							107.0	103.0	105.0					X																	114537972		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114537972T>G	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.331T>G	X.37:g.114537972T>G	ENSP00000360988:p.Leu111Val					LUZP4_ENST00000451986.2_Intron	p.L111V	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			3	338	+			111					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.331T>G	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	T	9.374	1.071193	0.20147	.	.	ENSG00000102021	ENST00000371920	T	0.40476	1.03	3.21	2.03	0.26663	.	.	.	.	.	T	0.23410	0.0566	N	0.14661	0.345	0.09310	N	0.999998	B	0.30146	0.27	B	0.33339	0.162	T	0.24657	-1.0154	9	0.21014	T	0.42	.	5.7883	0.18347	0.0:0.0:0.3077:0.6923	.	111	Q9P127	LUZP4_HUMAN	V	111	ENSP00000360988:L111V	ENSP00000360988:L111V	L	+	1	2	LUZP4	114444228	0.038000	0.19896	0.004000	0.12327	0.013000	0.08279	0.674000	0.25218	0.465000	0.27167	0.417000	0.27973	TTA		0.318	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		5	208	0	0	0	1	0	5	208				
SPATA13	221178	broad.mit.edu	37	13	24860393	24860393	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr13:24860393G>T	ENST00000382095.4	+	5	875	c.468G>T	c.(466-468)tgG>tgT	p.W156C	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.W659C|SPATA13_ENST00000382108.3_Missense_Mutation_p.W781C|SPATA13_ENST00000409126.1_Missense_Mutation_p.W78C|SPATA13_ENST00000343003.6_Missense_Mutation_p.W100C|SPATA13_ENST00000424834.2_Missense_Mutation_p.W781C|SPATA13_ENST00000399949.2_Missense_Mutation_p.W78C	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	156	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AAGCCCTGTGGGACCATGTGA	0.602																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2341-2343)tgG>tgT		spermatogenesis associated 13							115.0	106.0	109.0					13																	24860393		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860393G>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.468G>T	13.37:g.24860393G>T	ENSP00000371527:p.Trp156Cys					SPATA13_ENST00000409126.1_Missense_Mutation_p.W78C|SPATA13_ENST00000343003.6_Missense_Mutation_p.W100C|SPATA13_ENST00000382095.4_Missense_Mutation_p.W156C|SPATA13_ENST00000399949.2_Missense_Mutation_p.W78C|SPATA13_ENST00000382108.3_Missense_Mutation_p.W781C	p.W781C			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2816	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	156					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2343G>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.448008|4.448008	0.84101|0.84101	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	.|T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.69967	.|0.3170	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.997;0.998;0.997;0.996;0.998	.|T	.|0.73820	.|-0.3862	.|10	.|0.87932	.|D	.|0	.|.	17.8523|17.8523	0.88751|0.88751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;100;102;102;78;156	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	X|C	819|781;156;116;102;78;78;100;100	.|ENSP00000371542:W781C;ENSP00000371527:W156C;ENSP00000401605:W116C;ENSP00000382830:W78C;ENSP00000386471:W78C;ENSP00000343631:W100C;ENSP00000397498:W100C	.|ENSP00000343631:W100C	G|W	+|+	1|3	0|0	SPATA13|SPATA13	23758393|23758393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.471000|9.471000	0.97696|0.97696	2.462000|2.462000	0.83206|0.83206	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.602	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		65	94	1	0	1.1794e-34	1	1.50106e-34	65	94				
SLC2A11	66035	broad.mit.edu	37	22	24210757	24210757	+	Silent	SNP	C	C	A	rs201151293		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr22:24210757C>A	ENST00000345044.6	+	3	478	c.210C>A	c.(208-210)atC>atA	p.I70I	SLC2A11_ENST00000316185.8_Silent_p.I73I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000403208.3_Silent_p.I70I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	70					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(208-210)atC>atA		solute carrier family 2 (facilitated glucose transporter), member 11							195.0	144.0	161.0					22																	24210757		2203	4300	6503	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24210757C>A	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.210C>A	22.37:g.24210757C>A						SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.I73I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000403208.3_Silent_p.I70I|SLC2A11_ENST00000398356.2_Silent_p.I77I	p.I70I			Q9BYW1	GTR11_HUMAN			3	478	+			70					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.210C>A	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051153	0.08243	.	.	ENSG00000251357	ENST00000421180	.	.	.	3.24	-4.11	0.03928	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8845	0.18874	0.1515:0.2324:0.0:0.6161	.	.	.	.	X	46	.	.	S	+	2	0	AP000350.10	22540757	0.003000	0.15002	0.960000	0.40013	0.355000	0.29361	-2.051000	0.01402	-0.803000	0.04415	0.400000	0.26472	TCG		0.562	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	114	1	0	0.150653	1	0.150653	4	114				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	73	0	0	0	1	0	5	73				
COL4A5	1287	broad.mit.edu	37	X	107783004	107783004	+	Missense_Mutation	SNP	A	A	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:107783004A>T	ENST00000361603.2	+	2	354	c.110A>T	c.(109-111)aAg>aTg	p.K37M	COL4A5_ENST00000328300.6_Missense_Mutation_p.K37M	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	37	Nonhelical region (NC2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGGATCAAAGTGTGACTGC	0.353									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(109-111)aAg>aTg		collagen, type IV, alpha 5							158.0	140.0	146.0					X																	107783004		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107783004A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.110A>T	X.37:g.107783004A>T	ENSP00000354505:p.Lys37Met					COL4A5_ENST00000361603.2_Missense_Mutation_p.K37M	p.K37M	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			2	354	+			37			Nonhelical region (NC2).		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.110A>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754078	0.49362	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95949	-3.86;-3.86	4.98	4.98	0.66077	.	0.198764	0.41712	D	0.000828	D	0.96078	0.8722	L	0.46157	1.445	0.47905	D	0.999543	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.95580	0.8645	10	0.51188	T	0.08	.	10.2581	0.43410	1.0:0.0:0.0:0.0	.	37;37	E7EVY4;P29400	.;CO4A5_HUMAN	M	37	ENSP00000331902:K37M;ENSP00000354505:K37M	ENSP00000331902:K37M	K	+	2	0	COL4A5	107669660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.752000	0.62176	1.760000	0.52011	0.481000	0.45027	AAG		0.353	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			5	168	0	0	0	1	0	5	168				
PDE4D	5144	broad.mit.edu	37	5	58270678	58270678	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr5:58270678G>A	ENST00000340635.6	-	15	2418	c.2243C>T	c.(2242-2244)aCg>aTg	p.T748M	PDE4D_ENST00000502484.2_Missense_Mutation_p.T687M|PDE4D_ENST00000358923.6_Missense_Mutation_p.T446M|PDE4D_ENST00000360047.5_Missense_Mutation_p.T612M|PDE4D_ENST00000546160.1_Missense_Mutation_p.T687M|PDE4D_ENST00000317118.8_Missense_Mutation_p.T457M|PDE4D_ENST00000405755.2_Missense_Mutation_p.T626M|PDE4D_ENST00000503258.1_Missense_Mutation_p.T618M|PDE4D_ENST00000507116.1_Missense_Mutation_p.T684M	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	748					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTCCTTTTCCGTGTCTGACTC	0.493																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(2242-2244)aCg>aTg		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						242.0	248.0	246.0					5																	58270678		1994	4161	6155	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270678G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2243C>T	5.37:g.58270678G>A	ENSP00000345502:p.Thr748Met					PDE4D_ENST00000358923.6_Missense_Mutation_p.T446M|PDE4D_ENST00000507116.1_Missense_Mutation_p.T684M|PDE4D_ENST00000546160.1_Missense_Mutation_p.T687M|PDE4D_ENST00000317118.8_Missense_Mutation_p.T457M|PDE4D_ENST00000405755.2_Missense_Mutation_p.T626M|PDE4D_ENST00000360047.5_Missense_Mutation_p.T612M|PDE4D_ENST00000503258.1_Missense_Mutation_p.T618M|PDE4D_ENST00000502484.2_Missense_Mutation_p.T687M	p.T748M	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2418	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	748					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.2243C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561649	0.65538	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.66815	-0.22;-0.22;-0.23;-0.01;-0.01;-0.22;-0.22;-0.23;-0.23	5.22	5.22	0.72569	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.364948	0.29980	N	0.010701	T	0.76793	0.4037	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.983;0.966;1.0;0.982;0.982	D;D;D;P;B;D;P;P	0.83275	0.996;0.99;0.996;0.578;0.42;0.996;0.707;0.707	T	0.76372	-0.2983	10	0.49607	T	0.09	.	18.9581	0.92668	0.0:0.0:1.0:0.0	.	687;748;684;611;626;618;523;457	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	M	748;617;612;684;446;457;618;626;687;687	ENSP00000345502:T748M;ENSP00000353152:T612M;ENSP00000424852:T684M;ENSP00000351800:T446M;ENSP00000321739:T457M;ENSP00000425605:T618M;ENSP00000384806:T626M;ENSP00000423094:T687M;ENSP00000442734:T687M	ENSP00000321739:T457M	T	-	2	0	PDE4D	58306435	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	9.017000	0.93651	2.728000	0.93425	0.655000	0.94253	ACG		0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			5	352	0	0	0	1	0	5	352				
CXorf40B	541578	broad.mit.edu	37	X	149101910	149101910	+	Silent	SNP	G	G	T	rs139086529	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:149101910G>T	ENST00000370406.3	-	4	1011	c.183C>A	c.(181-183)ctC>ctA	p.L61L	XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000462691.1_Silent_p.L61L|CXorf40B_ENST00000355203.2_Silent_p.L61L|CXorf40B_ENST00000370404.1_Silent_p.L61L			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	61										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCATCCCGAGTCTCTCCA	0.567																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(181-183)ctC>ctA		chromosome X open reading frame 40B							178.0	164.0	169.0					X																	149101910		2200	4300	6500	SO:0001819	synonymous_variant	541578							g.chrX:149101910G>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.183C>A	X.37:g.149101910G>T						CXorf40B_ENST00000370404.1_Silent_p.L61L|CXorf40B_ENST00000355203.2_Silent_p.L61L|CXorf40B_ENST00000462691.1_Silent_p.L61L	p.L61L			Q96DE9	CX04B_HUMAN			4	1011	-	Acute lymphoblastic leukemia(192;6.56e-05)		61						Silent	SNP	ENST00000370406.3	37	c.183C>A	CCDS35426.1																																																																																				0.567	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		15	269	1	0	0.000422831	1	0.000479971	15	269				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		6	297	1	0	0.0293803	1	0.0316404	6	297				
XIRP2	129446	broad.mit.edu	37	2	168104097	168104097	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr2:168104097G>T	ENST00000409195.1	+	9	6284	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C	XIRP2_ENST00000295237.9_Missense_Mutation_p.W2065C|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W1843C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1890					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGGGTGTCTGGACTGATACTA	0.358																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6193-6195)tgG>tgT		xin actin-binding repeat containing 2							72.0	65.0	67.0					2																	168104097		1880	4118	5998	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104097G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6195G>T	2.37:g.168104097G>T	ENSP00000386840:p.Trp2065Cys					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.W2065C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W1843C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	p.W2065C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6284	+			1890					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6195G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803042	0.31869	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.21361	2.01;2.01;2.01	5.83	3.68	0.42216	.	1.157800	0.06101	N	0.665454	T	0.32585	0.0834	L	0.51422	1.61	0.09310	N	0.999992	D;D;D	0.63880	0.973;0.993;0.984	B;P;P	0.53360	0.43;0.724;0.724	T	0.14839	-1.0458	10	0.66056	D	0.02	3.0328	8.0674	0.30669	0.1223:0.0:0.7206:0.157	.	1890;1890;1843	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	2065;2065;1843	ENSP00000386840:W2065C;ENSP00000295237:W2065C;ENSP00000387255:W1843C	ENSP00000295237:W2065C	W	+	3	0	XIRP2	167812343	0.000000	0.05858	0.477000	0.27303	0.525000	0.34531	0.350000	0.20079	1.447000	0.47661	0.650000	0.86243	TGG		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	60	1	0	1.23904e-05	1	1.48685e-05	4	60				
TYMP	1890	broad.mit.edu	37	22	50967924	50967924	+	Splice_Site	SNP	C	C	G			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr22:50967924C>G	ENST00000252029.3	-	2	377		c.e2+1		TYMP_ENST00000395678.3_Splice_Site|TYMP_ENST00000395680.1_Splice_Site|TYMP_ENST00000395681.1_Splice_Site	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	TCCCCACGCACCGATCTGTGC	0.687																																						ENST00000252029.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.e2+1		thymidine phosphorylase	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40.0	45.0	43.0					22																	50967924		2202	4297	6499	SO:0001630	splice_region_variant	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967924C>G	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.214+1G>C	22.37:g.50967924C>G						TYMP_ENST00000395678.3_Splice_Site|TYMP_ENST00000395680.1_Splice_Site|TYMP_ENST00000395681.1_Splice_Site		NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	377	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						A8MW15|H9KVA0|Q13390|Q8WVB7	Splice_Site	SNP	ENST00000252029.3	37		CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659436	0.88154	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.278	0.60198	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYMP	49314790	0.986000	0.35501	0.647000	0.29507	0.761000	0.43186	0.994000	0.29693	2.198000	0.70561	0.448000	0.29417	.		0.687	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	Intron	4	139	0	0	0	1	0	4	139				
JAK2	3717	broad.mit.edu	37	9	5044449	5044449	+	Missense_Mutation	SNP	C	C	T	rs371826393		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr9:5044449C>T	ENST00000381652.3	+	5	891	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133W	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	133	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGAGCCTATCGGCATGGAAT	0.383		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(397-399)Cgg>Tgg		Janus kinase 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	131.0	134.0		397	4.4	1.0	9		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAK2	NM_004972.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	133/1133	5044449	2,13004	2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5044449C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.397C>T	9.37:g.5044449C>T	ENSP00000371067:p.Arg133Trp					JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133W	p.R133W	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	5	891	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	133			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.397C>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659513	0.88154	2.27E-4	1.16E-4	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.44083	0.93;0.93	5.35	4.42	0.53409	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76340	-0.2995	10	0.87932	D	0	-11.3373	15.2526	0.73559	0.1458:0.8542:0.0:0.0	.	133	O60674	JAK2_HUMAN	W	133	ENSP00000440387:R133W;ENSP00000371067:R133W	ENSP00000371067:R133W	R	+	1	2	JAK2	5034449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.045000	0.49838	1.311000	0.45024	0.655000	0.94253	CGG		0.383	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			26	43	0	0	0	1	0	26	43				
RHBDD3	25807	broad.mit.edu	37	22	29660060	29660060	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr22:29660060G>T	ENST00000216085.7	-	4	720	c.296C>A	c.(295-297)gCt>gAt	p.A99D	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	99					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CAGCCCAGAAGCCAGGGCGAG	0.672																																						ENST00000216085.7																			0				lung(1)|ovary(1)	2						c.(295-297)gCt>gAt		rhomboid domain containing 3							12.0	11.0	11.0					22																	29660060		2174	4255	6429	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29660060G>T	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.296C>A	22.37:g.29660060G>T	ENSP00000216085:p.Ala99Asp						p.A99D	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN			4	720	-			99					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.296C>A	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529090	0.27387	.	.	ENSG00000100263	ENST00000216085;ENST00000414672;ENST00000406335	T;T;T	0.16196	2.36;2.36;2.36	5.2	2.99	0.34606	Peptidase S54, rhomboid domain (1);	0.541938	0.17548	N	0.170292	T	0.26085	0.0636	L	0.57536	1.79	0.20563	N	0.999883	P	0.39311	0.667	P	0.50231	0.635	T	0.04551	-1.0943	10	0.36615	T	0.2	-3.083	8.4979	0.33138	0.0824:0.2694:0.6482:0.0	.	99	Q9Y3P4	RHBD3_HUMAN	D	99	ENSP00000216085:A99D;ENSP00000413128:A99D;ENSP00000384113:A99D	ENSP00000216085:A99D	A	-	2	0	RHBDD3	27990060	0.390000	0.25213	0.829000	0.32907	0.014000	0.08584	1.724000	0.38064	1.209000	0.43321	-0.219000	0.12488	GCT		0.672	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		3	13	1	0	6.4e-05	1	7.46667e-05	3	13				
ADAMTS19	171019	broad.mit.edu	37	5	128844806	128844806	+	Missense_Mutation	SNP	A	A	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr5:128844806A>T	ENST00000274487.4	+	3	911	c.766A>T	c.(766-768)Att>Ttt	p.I256F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	256						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTCATATTTATTGAGCCACT	0.358																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(766-768)Att>Ttt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							84.0	80.0	82.0					5																	128844806		2203	4299	6502	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844806A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.766A>T	5.37:g.128844806A>T	ENSP00000274487:p.Ile256Phe					CTC-575N7.1_ENST00000503616.1_RNA	p.I256F	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	911	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	256						Missense_Mutation	SNP	ENST00000274487.4	37	c.766A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961600	0.74016	.	.	ENSG00000145808	ENST00000274487	T	0.16073	2.37	4.27	4.27	0.50696	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000002	T	0.48409	0.1498	M	0.90759	3.145	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.59852	-0.7376	9	.	.	.	.	14.4503	0.67379	1.0:0.0:0.0:0.0	.	256	Q8TE59	ATS19_HUMAN	F	256	ENSP00000274487:I256F	.	I	+	1	0	ADAMTS19	128872705	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.277000	0.72608	2.158000	0.67659	0.528000	0.53228	ATT		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		5	47	0	0	0	1	0	5	47				
BCORL1	63035	broad.mit.edu	37	X	129159215	129159215	+	Missense_Mutation	SNP	C	C	A			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:129159215C>A	ENST00000218147.7	+	7	4136	c.3939C>A	c.(3937-3939)gaC>gaA	p.D1313E	BCORL1_ENST00000540052.1_Missense_Mutation_p.D1313E|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1313E|BCORL1_ENST00000359304.2_Intron			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1313					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAATGTGGGACACCAATgagg	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3937-3939)gaC>gaA		BCL6 corepressor-like 1							48.0	43.0	45.0					X																	129159215		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159215C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3939C>A	X.37:g.129159215C>A	ENSP00000218147:p.Asp1313Glu					BCORL1_ENST00000218147.7_Missense_Mutation_p.D1313E|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1313E|BCORL1_ENST00000359304.2_Intron	p.D1313E	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			6	3983	+			1313					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3939C>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888388	0.33348	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.41400	1.0;1.33;1.0;1.43	5.61	4.75	0.60458	.	0.000000	0.38897	N	0.001536	T	0.17152	0.0412	N	0.08118	0	0.24291	N	0.995162	P;P	0.40619	0.724;0.473	B;B	0.39152	0.292;0.069	T	0.27839	-1.0062	10	0.05351	T	0.99	-16.4196	5.3528	0.16045	0.1364:0.6354:0.147:0.0812	.	1313;1313	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	E	1313;1313;1313;913	ENSP00000218147:D1313E;ENSP00000307541:D1313E;ENSP00000437775:D1313E;ENSP00000399483:D913E	ENSP00000218147:D1313E	D	+	3	2	BCORL1	128986896	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.772000	0.26647	1.119000	0.41883	0.513000	0.50165	GAC		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	91	1	0	0.150653	1	0.150653	4	91				
ZFYVE20	64145	broad.mit.edu	37	3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	rs147577833	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121.0	122.0	122.0					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	245	0	0	0	1	0	4	245				
MAGEB6	158809	broad.mit.edu	37	X	26212267	26212267	+	Missense_Mutation	SNP	G	G	A	rs201693952		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chrX:26212267G>A	ENST00000379034.1	+	2	453	c.304G>A	c.(304-306)Gtt>Att	p.V102I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	102	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGATGCCTCCGTTCCTCAGGA	0.522													.|||	1	0.000264901	0.0	0.0	3775	,	,		13942	0.001		0.0	False		,,,				2504	0.0					ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(304-306)Gtt>Att		melanoma antigen family B, 6							85.0	78.0	80.0					X																	26212267		2196	4251	6447	SO:0001583	missense	158809							g.chrX:26212267G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.304G>A	X.37:g.26212267G>A	ENSP00000368320:p.Val102Ile						p.V102I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	453	+			102			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.304G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.432081	0.01108	.	.	ENSG00000176746	ENST00000379034	T	0.01933	4.55	1.56	-3.12	0.05282	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	9	0.40728	T	0.16	.	0.5173	0.00605	0.1955:0.1693:0.2972:0.338	.	102	Q8N7X4	MAGB6_HUMAN	I	102	ENSP00000368320:V102I	ENSP00000368320:V102I	V	+	1	0	MAGEB6	26122188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.778000	0.01778	-3.349000	0.00181	-3.046000	0.00070	GTT		0.522	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		10	175	0	0	0	1	0	10	175				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	91	0	0	0	1	0	5	91				
ADAM18	8749	broad.mit.edu	37	8	39463842	39463842	+	Missense_Mutation	SNP	C	C	A			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr8:39463842C>A	ENST00000265707.5	+	3	194	c.149C>A	c.(148-150)aCa>aAa	p.T50K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T50K|ADAM18_ENST00000520772.1_Missense_Mutation_p.T50K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	50					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACATCATTACAATTGATGGA	0.269																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(148-150)aCa>aAa		ADAM metallopeptidase domain 18							67.0	68.0	68.0					8																	39463842		2202	4286	6488	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39463842C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.149C>A	8.37:g.39463842C>A	ENSP00000265707:p.Thr50Lys					ADAM18_ENST00000520772.1_Missense_Mutation_p.T50K|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T50K	p.T50K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		3	194	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	50					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.149C>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936127	0.52972	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.06068	3.35;3.35;3.35	4.93	3.07	0.35406	Peptidase M12B, propeptide (1);	0.164796	0.28964	N	0.013567	T	0.06462	0.0166	L	0.46741	1.465	0.80722	D	1	B;B;B	0.33379	0.357;0.41;0.236	B;B;B	0.37091	0.155;0.241;0.115	T	0.38243	-0.9670	10	0.19590	T	0.45	.	6.7137	0.23292	0.1797:0.7241:0.0:0.0962	.	50;50;50	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	K	50;50;50;6	ENSP00000265707:T50K;ENSP00000369195:T50K;ENSP00000429908:T50K	ENSP00000265707:T50K	T	+	2	0	ADAM18	39582999	0.988000	0.35896	0.988000	0.46212	0.221000	0.24807	0.178000	0.16820	1.199000	0.43173	-0.309000	0.09137	ACA		0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		6	18	1	0	0.0381472	1	0.0400546	6	18				
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A	rs200513155		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V230M(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gtg>Atg		signal-regulatory protein alpha							66.0	57.0	60.0					20																	1902292		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902292G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.688G>A	20.37:g.1902292G>A	ENSP00000351621:p.Val230Met					SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	840	+			230			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.688G>A	CCDS13022.1	23	0.010531135531135532	4	0.008130081300813009	2	0.0055248618784530384	6	0.01048951048951049	11	0.014511873350923483	G	19.90	3.912586	0.72983	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.13538	2.58;2.58;2.58	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.115071	0.38720	N	0.001599	T	0.38081	0.1027	H	0.95294	3.65	0.45634	D	0.99856	D;D;D	0.69078	0.993;0.984;0.997	D;P;P	0.62955	0.909;0.562;0.878	T	0.57556	-0.7791	10	0.66056	D	0.02	.	13.7542	0.62926	0.0:0.0:1.0:0.0	.	210;230;230	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	M	230	ENSP00000382941:V230M;ENSP00000348307:V230M;ENSP00000351621:V230M	ENSP00000348307:V230M	V	+	1	0	SIRPA	1850292	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.834000	0.39171	2.718000	0.92993	0.650000	0.86243	GTG		0.612	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	103	0	0	0	1	0	4	103				
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C	rs199755248		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66.0	66.0	66.0					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		5	102	0	0	0	1	0	5	102				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	110	0	0	0	1	0	4	110				
PGM1	5236	broad.mit.edu	37	1	64114306	64114306	+	Silent	SNP	C	C	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr1:64114306C>T	ENST00000371084.3	+	8	1476	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	PGM1_ENST00000371083.4_Silent_p.G439G|PGM1_ENST00000540265.1_Silent_p.G224G	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	421					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAAAGTATGGCCGGAATTTCT	0.547																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1315-1317)ggC>ggT		phosphoglucomutase 1							81.0	78.0	79.0					1																	64114306		2203	4300	6503	SO:0001819	synonymous_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64114306C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1263C>T	1.37:g.64114306C>T						PGM1_ENST00000540265.1_Silent_p.G224G|PGM1_ENST00000371084.3_Silent_p.G421G	p.G439G	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			8	1685	+			421					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	c.1317C>T	CCDS625.1																																																																																				0.547	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		32	45	0	0	0	1	0	32	45				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	109	0	0	0	1	0	4	109				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	89	0	0	0	1	0	5	89				
LRP1	4035	broad.mit.edu	37	12	57570840	57570840	+	Silent	SNP	G	G	A	rs533098207		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr12:57570840G>A	ENST00000243077.3	+	25	4474	c.4008G>A	c.(4006-4008)gaG>gaA	p.E1336E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1336					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTAGTTTCGAGGTGGTGATTC	0.562																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4006-4008)gaG>gaA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						124.0	107.0	113.0					12																	57570840		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57570840G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4008G>A	12.37:g.57570840G>A							p.E1336E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	25	4474	+			1336					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4008G>A	CCDS8932.1																																																																																				0.562	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		42	98	0	0	0	1	0	42	98				
SYNRG	11276	broad.mit.edu	37	17	35946585	35946585	+	Missense_Mutation	SNP	G	G	A	rs143289977		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:35946585G>A	ENST00000339208.6	-	4	453	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	SYNRG_ENST00000346661.4_Missense_Mutation_p.R105C|SYNRG_ENST00000502449.2_Missense_Mutation_p.R105C|SYNRG_ENST00000345615.4_Missense_Mutation_p.R105C|SYNRG_ENST00000591288.1_Missense_Mutation_p.R105C|SYNRG_ENST00000585472.1_Missense_Mutation_p.R104C|SYNRG_ENST00000394378.2_Missense_Mutation_p.R105C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	105					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGGAGGACGCATGCCCAGG	0.478																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(313-315)Cgt>Tgt		synergin, gamma		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	131.0	135.0		313,310,313,313,313,313,313	4.7	1.0	17	dbSNP_134	135	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	180,180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	105/1237,104/1236,105/1180,105/1109,105/1315,105/1225,105/1260	35946585	1,13005	2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35946585G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.313C>T	17.37:g.35946585G>A	ENSP00000343610:p.Arg105Cys					SYNRG_ENST00000585472.1_Missense_Mutation_p.R104C|SYNRG_ENST00000502449.2_Missense_Mutation_p.R105C|SYNRG_ENST00000346661.4_Missense_Mutation_p.R105C|SYNRG_ENST00000394378.2_Missense_Mutation_p.R105C|SYNRG_ENST00000345615.4_Missense_Mutation_p.R105C|SYNRG_ENST00000591288.1_Missense_Mutation_p.R105C	p.R105C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			4	453	-			105					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.313C>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273791	0.80580	2.27E-4	0.0	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.74	4.74	0.60224	.	0.112886	0.64402	D	0.000020	T	0.50222	0.1603	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.993;0.993;0.993;0.993;0.997;0.997	P;P;P;P;P;P;P	0.59703	0.862;0.644;0.644;0.752;0.644;0.781;0.781	T	0.53697	-0.8402	10	0.59425	D	0.04	-1.0122	18.0705	0.89404	0.0:0.0:1.0:0.0	.	105;105;105;105;105;105;105	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	C	105	ENSP00000005279:R105C;ENSP00000343610:R105C;ENSP00000315722:R105C;ENSP00000424893:R105C;ENSP00000377903:R105C	ENSP00000343610:R105C	R	-	1	0	SYNRG	33020698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.686000	0.61700	2.316000	0.78162	0.591000	0.81541	CGT		0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		4	121	0	0	0	1	0	4	121				
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	141						7	141	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1819-1821)del		SATB homeobox 1			,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0.0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391133_18391135delCTG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del	p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3553_3555	-			607			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1819_1821delCAG	CCDS2631.1																																																																																				0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		8	38						8	38	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39899982	39899982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr4:39899982delA	ENST00000503396.1	-	16	2336	c.1797delT	c.(1795-1797)tttfs	p.F599fs	PDS5A_ENST00000303538.8_Intron	NM_001100400.1	NP_001093870.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AAAGCTAGAGAAAAAGTGTGA	0.323																																						ENST00000503396.1																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1795-1797)ttfs		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							38.0	36.0	37.0					4																	39899982		1822	4064	5886	SO:0001589	frameshift_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39899982delA	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000503396.1:c.1797delT	4.37:g.39899982delA	ENSP00000426749:p.Phe599fs					PDS5A_ENST00000303538.8_Intron	p.F599fs	NM_001100400.1	NP_001093870.1	Q29RF7	PDS5A_HUMAN			16	2336	-			0						Frame_Shift_Del	DEL	ENST00000503396.1	37	c.1797delT	CCDS54759.1																																																																																				0.323	PDS5A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361289.1	NM_015200		2	4						2	4	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	91						7	91	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	5						4	5	---	---	---	---
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Intron	DEL	C	C	-	rs374298038|rs145729152	byFrequency	TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr9:139235482delC	ENST00000440944.1	+	9	1427				GPSM1_ENST00000392945.3_Frame_Shift_Del_p.L413fs	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													?|CCCC|CCC|unsure	747	0.149161	0.0961	0.0793	5008	,	,		14952	0.252		0.1372	False		,,,				2504	0.1769					ENST00000392945.3																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1237-1239)ctfs		G-protein signaling modulator 1			,	494,3628		54,386,1621	12.0	14.0	14.0		,	0.3	0.0	9	dbSNP_134	15	1203,6943		136,931,3006	no	frameshift,intron	GPSM1	NM_015597.4,NM_001145638.1	,	190,1317,4627	A1A1,A1R,RR		14.768,11.9845,13.8327	,	,	139235482	1697,10571	2116	4195	6311	SO:0001627	intron_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139235482delC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1207+32C>-	9.37:g.139235482delC						GPSM1_ENST00000440944.1_Intron	p.L413fs	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	9	1459	+		Myeloproliferative disorder(178;0.0821)	0			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Frame_Shift_Del	DEL	ENST00000440944.1	37	c.1239delC	CCDS48055.1																																																																																				0.687	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		5	3						5	3	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	138						7	138	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135033493	135033493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr10:135033493delA	ENST00000304613.3	+	29	4916	c.4895delA	c.(4894-4896)gaafs	p.E1632fs	KNDC1_ENST00000368572.2_Frame_Shift_Del_p.E1634fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1632	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTCTGATGGAAGGGCGGCGC	0.692																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4894-4896)gafs		kinase non-catalytic C-lobe domain (KIND) containing 1							14.0	15.0	15.0					10																	135033493		2110	4155	6265	SO:0001589	frameshift_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135033493delA	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4895delA	10.37:g.135033493delA	ENSP00000304437:p.Glu1632fs					KNDC1_ENST00000368572.2_Frame_Shift_Del_p.E1634fs	p.E1632fs			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	29	4916	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1632			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Frame_Shift_Del	DEL	ENST00000304613.3	37	c.4895delA	CCDS7674.1																																																																																				0.692	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		2	4						2	4	---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45909518	45909523	+	In_Frame_Del	DEL	TATCAC	TATCAC	-			TCGA-KS-A41L-01A-11D-A23M-08	TCGA-KS-A41L-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ced601f-7523-4fb2-bdb3-144918e4f86d	0669d6f9-72e7-488f-95df-fd491c730568	g.chr17:45909518_45909523delTATCAC	ENST00000269025.4	+	2	426_431	c.63_68delTATCAC	c.(61-69)cttatcact>ctt	p.IT22del	MRPL10_ENST00000290208.7_5'Flank|MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000414011.1_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	22										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGAAGCCCTTATCACTAAGCGGAAC	0.529																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(61-69)ctt>ct		leucine rich repeat containing 46																																				SO:0001651	inframe_deletion	90506							g.chr17:45909518_45909523delTATCAC		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.63_68delTATCAC	17.37:g.45909518_45909523delTATCAC	ENSP00000269025:p.Ile22_Thr23del						p.LIT21del	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			2	426_431	+			21					A8K9Q0	In_Frame_Del	DEL	ENST00000269025.4	37	c.63_68delTATCAC	CCDS11518.1																																																																																				0.529	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		8	161						8	161	---	---	---	---
