#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KCNA3	3738	broad.mit.edu	37	1	111216224	111216224	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:111216224A>C	ENST00000369769.2	-	1	1431	c.1208T>G	c.(1207-1209)tTc>tGc	p.F403C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	403					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.F403S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AAAGAGGAAGAAGATGAGCAA	0.582																																						ENST00000369769.2																			1	Substitution - Missense(1)	p.F403S(1)	large_intestine(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1207-1209)tTc>tGc		potassium voltage-gated channel, shaker-related subfamily, member 3							59.0	60.0	60.0					1																	111216224		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216224A>C	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1208T>G	1.37:g.111216224A>C	ENSP00000358784:p.Phe403Cys		Somatic					p.F403C	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1431	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	403					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1208T>G	CCDS828.2	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442649	0.63067	.	.	ENSG00000177272	ENST00000369769	D	0.98666	-5.06	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99309	0.9758	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98951	1.0794	10	0.62326	D	0.03	.	15.9764	0.80066	1.0:0.0:0.0:0.0	.	403	P22001	KCNA3_HUMAN	C	403	ENSP00000358784:F403C	ENSP00000358784:F403C	F	-	2	0	KCNA3	111017747	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	9.335000	0.96500	2.171000	0.68590	0.533000	0.62120	TTC		0.582	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		23	35	23	35	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114483922	114483922	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483922T>G	ENST00000369558.1	+	2	1149	c.917T>G	c.(916-918)cTc>cGc	p.L306R	HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGAAGCTCAAGAGTCTT	0.463																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(916-918)cTc>cGc		homeodomain interacting protein kinase 1							95.0	90.0	92.0					1																	114483922		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483922T>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.917T>G	1.37:g.114483922T>G	ENSP00000358571:p.Leu306Arg		Somatic				HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R	p.L306R			WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1149	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	306			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.917T>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044516	0.75732	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000035	T	0.70185	0.3195	H	0.95679	3.705	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.994	T	0.80939	-0.1158	10	0.87932	D	0	.	15.7631	0.78103	0.0:0.0:0.0:1.0	.	306;306	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	R	377;306;306;306;306;306;306	ENSP00000407442:L377R;ENSP00000358572:L306R;ENSP00000409673:L306R;ENSP00000358567:L306R;ENSP00000358568:L306R;ENSP00000358571:L306R;ENSP00000358574:L306R	ENSP00000358567:L306R	L	+	2	0	HIPK1	114285445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	2.126000	0.65437	0.377000	0.23210	CTC		0.463	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		10	66	10	66	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114483936	114483936	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483936C>G	ENST00000369558.1	+	2	1163	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L311L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCTTGGTCTGATCCACGC	0.478																																						ENST00000369558.1																			2	Substitution - coding silent(2)	p.L311L(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(931-933)Ctg>Gtg		homeodomain interacting protein kinase 1							106.0	99.0	101.0					1																	114483936		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483936C>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.931C>G	1.37:g.114483936C>G	ENSP00000358571:p.Leu311Val		Somatic				HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V	p.L311V			WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1163	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	311			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.931C>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811122	0.50421	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.59	2.13	0.27403	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000084	T	0.39545	0.1082	N	0.04636	-0.2	0.80722	D	1	D;D	0.57257	0.979;0.974	D;D	0.71414	0.973;0.969	T	0.53697	-0.8402	10	0.62326	D	0.03	.	11.2472	0.49004	0.0:0.7533:0.0:0.2467	.	311;311	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	V	382;311;311;311;311;311;311	ENSP00000407442:L382V;ENSP00000358572:L311V;ENSP00000409673:L311V;ENSP00000358567:L311V;ENSP00000358568:L311V;ENSP00000358571:L311V;ENSP00000358574:L311V	ENSP00000358567:L311V	L	+	1	2	HIPK1	114285459	0.985000	0.35326	1.000000	0.80357	0.959000	0.62525	1.299000	0.33424	0.666000	0.31087	0.460000	0.39030	CTG		0.478	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		11	69	11	69	---	---	---	---
RGS21	431704	broad.mit.edu	37	1	192335057	192335057	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:192335057A>C	ENST00000417209.2	+	5	436	c.262A>C	c.(262-264)Att>Ctt	p.I88L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	88	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACAGATTAACATTGACTTCGG	0.303																																						ENST00000417209.2																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(262-264)Att>Ctt		regulator of G-protein signaling 21							89.0	88.0	88.0					1																	192335057		1827	4074	5901	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192335057A>C	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.262A>C	1.37:g.192335057A>C	ENSP00000428343:p.Ile88Leu		Somatic					p.I88L	NM_001039152.3	NP_001034241.1	WXS	Illumina GAIIx	Phase_I	Q2M5E4	RGS21_HUMAN			5	436	+			88			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.262A>C	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632976	0.29068	.	.	ENSG00000253148	ENST00000417209	T	0.01933	4.55	5.69	5.69	0.88448	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.34133	U	0.004222	T	0.01905	0.0060	N	0.12831	0.26	0.47819	D	0.999522	B	0.17268	0.021	B	0.28232	0.087	T	0.53258	-0.8464	10	0.08179	T	0.78	.	14.7596	0.69596	1.0:0.0:0.0:0.0	.	88	Q2M5E4	RGS21_HUMAN	L	88	ENSP00000428343:I88L	ENSP00000428343:I88L	I	+	1	0	RGS21	190601680	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.715000	0.61909	2.164000	0.68074	0.402000	0.26972	ATT		0.303	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			29	45	29	45	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260218	90260218	+	RNA	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:90260218T>A	ENST00000471857.1	+	0	502									immunoglobulin kappa variable 1D-8																		ATTTTGCAACTTATTACTGTC	0.498																																						ENST00000471857.1																			0																				122.0	136.0	132.0					2																	90260218		1851	4107	5958			28904							g.chr2:90260218T>A	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260218T>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	502	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.498	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		8	136	8	136	---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13659706	13659706	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:13659706C>T	ENST00000295760.7	+	6	1929	c.1860C>T	c.(1858-1860)tgC>tgT	p.C620C	FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000404922.3_Silent_p.C620C|FBLN2_ENST00000492059.1_Silent_p.C620C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	620	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCACCTTTGCATCAATACTG	0.627																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1858-1860)tgC>tgT		fibulin 2							95.0	103.0	101.0					3																	13659706		2078	4213	6291	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659706C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1860C>T	3.37:g.13659706C>T			Somatic				FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000492059.1_Silent_p.C620C|FBLN2_ENST00000295760.7_Silent_p.C620C	p.C620C	NM_001004019.1	NP_001004019.1	WXS	Illumina GAIIx	Phase_I	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	1979	+			620			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1860C>T	CCDS46762.1																																																																																				0.627	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		39	54	39	54	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37512505	37512505	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:37512505G>A	ENST00000264741.5	+	2	449	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	65					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGGGTCCTTGTGGGCGCACC	0.522																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(193-195)Gtg>Atg		integrin, alpha 9							79.0	75.0	76.0					3																	37512505		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37512505G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.193G>A	3.37:g.37512505G>A	ENSP00000264741:p.Val65Met		Somatic				ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	p.V65M	NM_002207.2	NP_002198.2	WXS	Illumina GAIIx	Phase_I	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	2	449	+			65					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.193G>A	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581248	0.65992	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.87491	-2.26;-2.26	5.23	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.88979	2.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94803	0.7972	10	0.87932	D	0	.	13.9996	0.64424	0.0:0.0:0.847:0.153	.	65;65	Q13797;E9PDS3	ITA9_HUMAN;.	M	65	ENSP00000397258:V65M;ENSP00000264741:V65M	ENSP00000264741:V65M	V	+	1	0	ITGA9	37487509	1.000000	0.71417	0.963000	0.40424	0.674000	0.39518	8.529000	0.90602	1.171000	0.42768	0.655000	0.94253	GTG		0.522	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		13	34	13	34	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142141706	142141706	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:142141706A>T	ENST00000264951.4	-	7	886	c.769T>A	c.(769-771)Tat>Aat	p.Y257N	XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N|RNU1-100P_ENST00000365255.1_RNA	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTCAATATACTCTCTCATT	0.328																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(769-771)Tat>Aat		5'-3' exoribonuclease 1							64.0	70.0	68.0					3																	142141706		2203	4295	6498	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142141706A>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.769T>A	3.37:g.142141706A>T	ENSP00000264951:p.Tyr257Asn		Somatic				XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N	p.Y257N	NM_019001.3	NP_061874.3	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			7	886	-			257					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.769T>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511953	0.85389	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157;ENST00000477237	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.98;1.0;0.999	D	0.85333	0.1091	10	0.87932	D	0	-19.0539	15.7095	0.77615	1.0:0.0:0.0:0.0	.	47;257;118;257;257	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	N	257;257;257;47;118	ENSP00000264951:Y257N;ENSP00000376707:Y257N	ENSP00000264951:Y257N	Y	-	1	0	XRN1	143624396	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.840000	0.75369	2.102000	0.63906	0.528000	0.53228	TAT		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		18	52	18	52	---	---	---	---
GZMK	3003	broad.mit.edu	37	5	54326364	54326364	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:54326364C>G	ENST00000231009.2	+	3	385	c.315C>G	c.(313-315)ttC>ttG	p.F105L	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTATACCATTCTCAAGAGTTA	0.388																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(313-315)ttC>ttG		granzyme K (granzyme 3; tryptase II)							145.0	141.0	142.0					5																	54326364		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54326364C>G	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.315C>G	5.37:g.54326364C>G	ENSP00000231009:p.Phe105Leu		Somatic				CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.F105L	NM_002104.2	NP_002095.1	WXS	Illumina GAIIx	Phase_I	P49863	GRAK_HUMAN			3	385	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	105			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.315C>G	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598073	0.28445	.	.	ENSG00000113088	ENST00000231009	D	0.88124	-2.34	4.23	3.37	0.38596	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299238	0.31909	N	0.006880	T	0.72819	0.3508	N	0.11201	0.11	0.37005	D	0.895453	B	0.12013	0.005	B	0.16289	0.015	T	0.70156	-0.4949	10	0.44086	T	0.13	.	8.107	0.30892	0.0:0.8918:0.0:0.1082	.	105	P49863	GRAK_HUMAN	L	105	ENSP00000231009:F105L	ENSP00000231009:F105L	F	+	3	2	GZMK	54362121	0.303000	0.24463	0.871000	0.34182	0.371000	0.29859	0.592000	0.23984	1.367000	0.46095	0.655000	0.94253	TTC		0.388	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		29	49	29	49	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6225029	6225029	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:6225029A>T	ENST00000264870.3	-	7	1128	c.863T>A	c.(862-864)gTc>gAc	p.V288D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(862-864)gTc>gAc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						110.0	104.0	106.0					6																	6225029		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225029A>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.863T>A	6.37:g.6225029A>T	ENSP00000264870:p.Val288Asp		Somatic					p.V288D	NM_000129.3	NP_000120.2	WXS	Illumina GAIIx	Phase_I	P00488	F13A_HUMAN			7	1128	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	288					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.863T>A	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.99|18.99	3.740588|3.740588	0.69304|0.69304	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.96136	.|-3.92	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.065842	.|0.64402	.|D	.|0.000010	D|D	0.97300|0.97300	0.9117|0.9117	M|M	0.88570|0.88570	2.965|2.965	0.35604|0.35604	D|D	0.808128|0.808128	.|D;D	.|0.65815	.|0.971;0.995	.|P;P	.|0.61201	.|0.809;0.885	D|D	0.99232|0.99232	1.0882|1.0882	5|10	.|0.72032	.|D	.|0.01	.|.	14.8113|14.8113	0.69996|0.69996	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|225;288	.|F5H080;P00488	.|.;F13A_HUMAN	T|D	5|288;225	.|ENSP00000264870:V288D	.|ENSP00000264870:V288D	S|V	-|-	1|2	0|0	F13A1|F13A1	6170028|6170028	0.630000|0.630000	0.27155|0.27155	0.004000|0.004000	0.12327|0.12327	0.954000|0.954000	0.61252|0.61252	5.736000|5.736000	0.68597|0.68597	2.083000|2.083000	0.62718|0.62718	0.460000|0.460000	0.39030|0.39030	TCC|GTC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		41	49	41	49	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31590551	31590551	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:31590551A>T	ENST00000376033.2	+	0	219				SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_De_novo_Start_OutOfFrame	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACATACTCAATGAGCTTCCA	0.547																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70								proline-rich coiled-coil 2A							150.0	154.0	153.0					6																	31590551		2203	4300	6503			7916					cytoplasm|nucleus	protein binding	g.chr6:31590551A>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.-16A>T	6.37:g.31590551A>T			Somatic				PRRC2A_ENST00000376007.4_De_novo_Start_OutOfFrame|PRRC2A_ENST00000469577.1_Intron		NM_004638.3	NP_004629.3	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			0	219	+								B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Translation_Start_Site	SNP	ENST00000376033.2	37		CCDS4708.1																																																																																				0.547	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	128	4	128	---	---	---	---
TINAG	27283	broad.mit.edu	37	6	54216177	54216177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:54216177C>T	ENST00000259782.4	+	8	1204	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	370					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAATCATGCAAAATGGACC	0.318																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1108-1110)Caa>Taa		tubulointerstitial nephritis antigen							95.0	94.0	94.0					6																	54216177		2202	4295	6497	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54216177C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1108C>T	6.37:g.54216177C>T	ENSP00000259782:p.Gln370*		Somatic					p.Q370*	NM_014464.3	NP_055279.3	WXS	Illumina GAIIx	Phase_I	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		8	1204	+	Lung NSC(77;0.0518)		370					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.1108C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	40	8.305710	0.98752	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.08	5.08	0.68730	.	0.227470	0.31872	N	0.006922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	12.6869	0.56952	0.0:0.7273:0.2727:0.0	.	.	.	.	X	229;370;49	.	ENSP00000259782:Q370X	Q	+	1	0	TINAG	54324136	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.632000	0.37102	2.498000	0.84270	0.655000	0.94253	CAA		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		7	20	7	20	---	---	---	---
VNN3	55350	broad.mit.edu	37	6	133045963	133045963	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:133045963T>C	ENST00000207771.3	-	6	1054	c.982A>G	c.(982-984)Aag>Gag	p.K328E	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000509351.1_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	329	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GAAAATGGCTTGACACTGCTG	0.478																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(982-984)Aag>Gag		vanin 3							144.0	134.0	137.0					6																	133045963		876	1991	2867	SO:0001583	missense	55350							g.chr6:133045963T>C	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.982A>G	6.37:g.133045963T>C	ENSP00000440594:p.Lys328Glu		Somatic				VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR	p.K328E			WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	6	1054	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000207771.3	37	c.982A>G		.	.	.	.	.	.	.	.	.	.	T	4.384	0.070801	0.08436	.	.	ENSG00000093134	ENST00000207771	D	0.87571	-2.27	5.22	1.28	0.21552	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.544623	0.18044	N	0.153509	T	0.42921	0.1224	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.48559	-0.9025	9	0.02654	T	1	-16.3859	6.1243	0.20170	0.0:0.3339:0.1303:0.5358	.	329	Q9NY84	VNN3_HUMAN	E	328	ENSP00000440594:K328E	ENSP00000440594:K328E	K	-	1	0	VNN3	133087656	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.386000	0.07370	0.043000	0.15746	0.477000	0.44152	AAG		0.478	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		4	101	4	101	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683098	100683098	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr7:100683098C>T	ENST00000306151.4	+	3	8465	c.8401C>T	c.(8401-8403)Cca>Tca	p.P2801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2801	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2801S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2801S(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8401-8403)Cca>Tca		mucin 17, cell surface associated							256.0	255.0	256.0					7																	100683098		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683098C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8401C>T	7.37:g.100683098C>T	ENSP00000302716:p.Pro2801Ser		Somatic					p.P2801S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8465	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2801			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8401C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.203	-0.382546	0.04966	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01940	0.0061	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.16867	-1.0388	9	0.08179	T	0.78	.	0.6433	0.00814	0.2492:0.2046:0.3467:0.1995	.	2801	Q685J3	MUC17_HUMAN	S	2801	ENSP00000302716:P2801S	ENSP00000302716:P2801S	P	+	1	0	MUC17	100469818	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.801000	0.00761	-2.216000	0.00732	0.134000	0.15878	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	368	7	368	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2824233	2824233	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:2824233C>T	ENST00000520002.1	-	59	9517	c.8962G>A	c.(8962-8964)Gga>Aga	p.G2988R	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2988	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCATTCCGTTGGTGGGT	0.527																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8962-8964)Gga>Aga		CUB and Sushi multiple domains 1							61.0	63.0	62.0					8																	2824233		2070	4210	6280	SO:0001583	missense	64478					integral to membrane		g.chr8:2824233C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8962G>A	8.37:g.2824233C>T	ENSP00000430733:p.Gly2988Arg		Somatic				CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R	p.G2988R			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	59	9517	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2988			Sushi 23.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8962G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.489602|3.489602	0.64074|0.64074	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.56611|.	0.45;0.45|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Complement control module (2);Sushi/SCR/CCP (3);|.	0.068305|.	0.64402|.	D|.	0.000020|.	D|D	0.88676|0.88676	0.6501|0.6501	H|H	0.96943|0.96943	3.91|3.91	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.974|.	D|D	0.92250|0.92250	0.5808|0.5808	10|5	0.87932|.	D|.	0|.	.|.	19.3169|19.3169	0.94218|0.94218	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2988;2988|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	R|Q	2988;2849;2987|2404	ENSP00000430733:G2988R;ENSP00000441462:G2987R|.	ENSP00000320445:G2849R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2811640|2811640	1.000000|1.000000	0.71417|0.71417	0.215000|0.215000	0.23724|0.23724	0.022000|0.022000	0.10575|0.10575	7.635000|7.635000	0.83286|0.83286	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	8	7	8	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26628173	26628173	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:26628173G>A	ENST00000519229.1	-	2	900	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ADRA1A_ENST00000354550.4_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000380573.3_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.F298F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	374					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGAAATCAGGGAAGAAAGACC	0.388																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(892-894)ttC>ttT		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						38.0	43.0	41.0					8																	26628173		2183	4294	6477	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26628173G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.894C>T	8.37:g.26628173G>A			Somatic				ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000519229.1_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Silent_p.F298F	p.F298F			WXS	Illumina GAIIx	Phase_I	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	1917	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	298					Q9NPY0	Silent	SNP	ENST00000519229.1	37	c.894C>T																																																																																					0.388	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		16	25	16	25	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73235281	73235281	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr9:73235281C>T	ENST00000377111.2	-	15	2047	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	TRPM3_ENST00000396285.1_Splice_Site_p.D449N|TRPM3_ENST00000423814.3_Splice_Site_p.D629N|TRPM3_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000377110.3_Splice_Site_p.D602N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	627					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAATATCATCCTGTAATTAC	0.443																																						ENST00000377110.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1804-1806)Gat>Aat		transient receptor potential cation channel, subfamily M, member 3							216.0	208.0	211.0					9																	73235281		2203	4300	6503	SO:0001630	splice_region_variant	80036					integral to membrane	calcium channel activity	g.chr9:73235281C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1804-1G>A	9.37:g.73235281C>T			Somatic				TRPM3_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N|TRPM3_ENST00000423814.3_Splice_Site_p.D629N|TRPM3_ENST00000396285.1_Splice_Site_p.D449N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000377111.2_Splice_Site_p.D602N	p.D602N			WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			15	2047	-								A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	SNP	ENST00000377111.2	37	c.1804G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.26|18.26	3.584539|3.584539	0.65992|0.65992	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.74315|.	-0.83;-0.83;-0.83;-0.81;-0.83;-0.81;-0.83;-0.83;-0.83;-0.81;-0.83|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74129|0.74129	0.3676|0.3676	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;B;P;B;B;P;B;B|.	0.49358|.	0.001;0.049;0.923;0.007;0.002;0.561;0.024;0.008|.	B;B;P;B;B;B;B;B|.	0.56216|.	0.009;0.021;0.794;0.007;0.004;0.436;0.025;0.041|.	T|T	0.68420|0.68420	-0.5413|-0.5413	10|5	0.18710|.	T|.	0.47|.	-22.9681|-22.9681	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	602;602;592;606;464;461;574;449|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	N|E	602;602;474;464;461;606;461;449;474;464;629|450	ENSP00000366315:D602N;ENSP00000366314:D602N;ENSP00000366310:D474N;ENSP00000354066:D464N;ENSP00000366309:D461N;ENSP00000350140:D606N;ENSP00000386127:D461N;ENSP00000379581:D449N;ENSP00000379587:D474N;ENSP00000350791:D464N;ENSP00000389542:D629N|.	ENSP00000350140:D606N|.	D|G	-|-	1|2	0|0	TRPM3|TRPM3	72425101|72425101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	7.487000|7.487000	0.81328|0.81328	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.443	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	Missense_Mutation	55	85	55	85	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573204	64573204	+	Silent	SNP	G	G	A	rs371997981		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:64573204G>A	ENST00000242480.3	-	2	1519	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	EGR2_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.F398F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	398					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTCACAGGCGAAGGGCTTCT	0.587																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1192-1194)ttC>ttT		early growth response 2		G	,,,	0,4406		0,0,2203	152.0	142.0	145.0		1194,1194,1194,1044	-5.2	1.0	10		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGR2	NM_000399.3,NM_001136177.1,NM_001136178.1,NM_001136179.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	398/477,398/477,398/477,348/427	64573204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573204G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1194C>T	10.37:g.64573204G>A			Somatic				EGR2_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000439032.1_Silent_p.F398F	p.F398F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	WXS	Illumina GAIIx	Phase_I	P11161	EGR2_HUMAN			2	1519	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		398					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.1194C>T	CCDS7267.1																																																																																				0.587	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		4	131	4	131	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57094190	57094190	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:57094190C>T	ENST00000278412.2	-	16	2311	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	RP11-872D17.4_ENST00000534162.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	682	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GCTCCTCCTCCTCTTCTTTTT	0.542																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(2044-2046)aGg>aAg		structure specific recognition protein 1							108.0	108.0	108.0					11																	57094190		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57094190C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2045G>A	11.37:g.57094190C>T	ENSP00000278412:p.Arg682Lys		Somatic				RP11-872D17.4_ENST00000534162.1_RNA	p.R682K	NM_003146.2	NP_003137.1	WXS	Illumina GAIIx	Phase_I	Q08945	SSRP1_HUMAN			16	2311	-			682			Ser-rich.		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.2045G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340045	0.11069	.	.	ENSG00000149136	ENST00000278412	D	0.92099	-2.97	5.06	4.13	0.48395	.	0.327923	0.27735	N	0.018067	T	0.72112	0.3420	N	0.00991	-1.07	0.26802	N	0.969184	B	0.02656	0.0	B	0.01281	0.0	T	0.62144	-0.6916	10	0.02654	T	1	-24.2251	8.779	0.34781	0.0:0.7674:0.1525:0.0801	.	682	Q08945	SSRP1_HUMAN	K	682	ENSP00000278412:R682K	ENSP00000278412:R682K	R	-	2	0	SSRP1	56850766	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	2.821000	0.48065	1.100000	0.41517	0.462000	0.41574	AGG		0.542	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		32	41	32	41	---	---	---	---
TAF6L	10629	broad.mit.edu	37	11	62554330	62554330	+	Silent	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:62554330A>T	ENST00000294168.3	+	11	1632	c.1431A>T	c.(1429-1431)gcA>gcT	p.A477A	TMEM179B_ENST00000533861.1_5'Flank|TMEM179B_ENST00000333449.4_5'Flank|TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	477					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCGGCGGCAGCCCCGGACT	0.736											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(1429-1431)gcA>gcT		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							6.0	8.0	7.0					11																	62554330		1944	3937	5881	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62554330A>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1431A>T	11.37:g.62554330A>T			Somatic	OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	TMEM223_ENST00000527073.1_Intron	p.A477A	NM_006473.3	NP_006464.1	WXS	Illumina GAIIx	Phase_I	Q9Y6J9	TAF6L_HUMAN			11	1632	+			477					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.1431A>T	CCDS8035.1																																																																																				0.736	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		8	9	8	9	---	---	---	---
GAB2	9846	broad.mit.edu	37	11	77934693	77934693	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:77934693G>C	ENST00000361507.4	-	6	1417	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	444					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AATTGGTGCTGTCCGATCGGC	0.488																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1330-1332)gaC>gaG		GRB2-associated binding protein 2							236.0	239.0	238.0					11																	77934693		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77934693G>C	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1332C>G	11.37:g.77934693G>C	ENSP00000354952:p.Asp444Glu		Somatic				GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	p.D444E	NM_080491.2	NP_536739.1	WXS	Illumina GAIIx	Phase_I	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		6	1417	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		444					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1332C>G	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117544	0.56505	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16324	2.35;2.35	4.97	-7.4	0.01397	.	0.193845	0.41712	U	0.000823	T	0.13756	0.0333	L	0.56769	1.78	0.41169	D	0.986154	B	0.18166	0.026	B	0.21917	0.037	T	0.32481	-0.9905	10	0.13470	T	0.59	-8.404	16.0217	0.80503	0.1254:0.1039:0.7708:0.0	.	444	Q9UQC2	GAB2_HUMAN	E	406;444	ENSP00000343959:D406E;ENSP00000354952:D444E	ENSP00000343959:D406E	D	-	3	2	GAB2	77612341	1.000000	0.71417	0.002000	0.10522	0.616000	0.37450	0.791000	0.26915	-1.433000	0.01977	-0.367000	0.07326	GAC		0.488	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		105	141	105	141	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5853449	5853449	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:5853449T>A	ENST00000356134.5	-	13	1287	c.1216A>T	c.(1216-1218)Atg>Ttg	p.M406L	ANO2_ENST00000327087.8_Missense_Mutation_p.M405L|ANO2_ENST00000546188.1_Missense_Mutation_p.M406L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	410					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGGGACACATGGTGAAGGCA	0.537																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1213-1215)Atg>Ttg		anoctamin 2							102.0	106.0	105.0					12																	5853449		2121	4243	6364	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5853449T>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1216A>T	12.37:g.5853449T>A	ENSP00000348453:p.Met406Leu		Somatic				ANO2_ENST00000546188.1_Missense_Mutation_p.M406L|ANO2_ENST00000356134.5_Missense_Mutation_p.M406L	p.M405L	NM_001278597.1	NP_001265526.1	WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			12	1284	-			410					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1213A>T		.	.	.	.	.	.	.	.	.	.	T	27.1	4.804511	0.90623	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.69685	-0.41;-0.41;-0.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.74467	2.265	0.80722	D	1	D	0.63046	0.992	D	0.65987	0.94	T	0.80806	-0.1218	10	0.46703	T	0.11	.	14.6396	0.68714	0.0:0.0:0.0:1.0	.	405	Q9NQ90-3	.	L	405;406;406;410	ENSP00000314048:M405L;ENSP00000348453:M406L;ENSP00000440981:M406L	ENSP00000314048:M405L	M	-	1	0	ANO2	5723710	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.961000	0.87903	2.117000	0.64856	0.533000	0.62120	ATG		0.537	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		21	36	21	36	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35152284	35152284	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:35152284T>A	ENST00000156471.5	-	34	4327	c.4102A>T	c.(4102-4104)Atg>Ttg	p.M1368L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1368					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGCATGTACATGTTGTATACA	0.313																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(4102-4104)Atg>Ttg		aquarius intron-binding spliceosomal factor							163.0	148.0	153.0					15																	35152284		1806	4071	5877	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35152284T>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4102A>T	15.37:g.35152284T>A	ENSP00000156471:p.Met1368Leu		Somatic					p.M1368L	NM_014691.2	NP_055506.1	WXS	Illumina GAIIx	Phase_I	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	34	4327	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1368					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.4102A>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095231	0.56075	.	.	ENSG00000021776	ENST00000543879	.	.	.	5.68	5.68	0.88126	.	0.036797	0.85682	D	0.000000	T	0.56731	0.2005	L	0.50919	1.6	0.40232	D	0.97785	B	0.06786	0.001	B	0.04013	0.001	T	0.53380	-0.8447	9	0.21540	T	0.41	-15.3246	15.9835	0.80130	0.0:0.0:0.0:1.0	.	1368	O60306	AQR_HUMAN	L	1368	.	ENSP00000445700:M1368L	M	-	1	0	AQR	32939576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.185000	0.69588	0.529000	0.55759	ATG		0.313	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		21	36	21	36	---	---	---	---
SQRDL	58472	broad.mit.edu	37	15	45968454	45968454	+	Silent	SNP	A	A	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:45968454A>G	ENST00000260324.7	+	6	1196	c.810A>G	c.(808-810)aaA>aaG	p.K270K	RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_Silent_p.K270K	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	270					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAGCCGATAAACAAGAGGCTG	0.483																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(808-810)aaA>aaG		sulfide quinone reductase-like (yeast)							112.0	111.0	112.0					15																	45968454		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45968454A>G	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.810A>G	15.37:g.45968454A>G			Somatic				RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_Silent_p.K270K	p.K270K	NM_021199.3	NP_067022.1	WXS	Illumina GAIIx	Phase_I	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	1196	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	270					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.810A>G	CCDS10127.1																																																																																				0.483	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			49	61	49	61	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:1570724G>A	ENST00000426508.2	-	27	3902	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1180					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3538-3540)tCc>tTc		intraflagellar transport 140 homolog (Chlamydomonas)							34.0	32.0	32.0					16																	1570724		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570724G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3539C>T	16.37:g.1570724G>A	ENSP00000406012:p.Ser1180Phe		Somatic				IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	p.S1180F	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	Q96RY7	IF140_HUMAN			27	3902	-		Hepatocellular(780;0.219)	1180					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3539C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676155	0.47886	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.44482	0.92;0.92	5.78	1.47	0.22746	.	0.132019	0.53938	D	0.000052	T	0.50480	0.1618	M	0.68317	2.08	0.53688	D	0.999979	P;P	0.42993	0.734;0.797	B;P	0.46253	0.316;0.509	T	0.60182	-0.7313	10	0.54805	T	0.06	.	18.7943	0.91988	0.0:0.4963:0.5037:0.0	.	1180;867	Q96RY7;B4DR58	IF140_HUMAN;.	F	1180;374;1180	ENSP00000354895:S374F;ENSP00000406012:S1180F	ENSP00000354895:S374F	S	-	2	0	IFT140	1510725	1.000000	0.71417	0.182000	0.23118	0.635000	0.38103	4.628000	0.61282	0.122000	0.18314	-0.175000	0.13238	TCC		0.612	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	19	7	19	---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48295427	48295427	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:48295427G>T	ENST00000285737.4	+	5	909	c.816G>T	c.(814-816)atG>atT	p.M272I	LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACATTGTCATGCTAGAGAAAA	0.338																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(814-816)atG>atT		lon peptidase 2, peroxisomal							139.0	138.0	138.0					16																	48295427		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48295427G>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.816G>T	16.37:g.48295427G>T	ENSP00000285737:p.Met272Ile		Somatic				LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	p.M272I	NM_031490.2	NP_113678.2	WXS	Illumina GAIIx	Phase_I	Q86WA8	LONP2_HUMAN			5	909	+			272						Missense_Mutation	SNP	ENST00000285737.4	37	c.816G>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957656	0.34565	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.28895	1.6;1.59	5.88	5.88	0.94601	.	0.419248	0.31472	N	0.007599	T	0.15565	0.0375	N	0.04508	-0.205	0.33561	D	0.597404	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09100	-1.0690	10	0.62326	D	0.03	-26.1401	10.2936	0.43610	0.0712:0.2105:0.7183:0.0	.	228;272	B7ZKL7;Q86WA8	.;LONP2_HUMAN	I	272;1;228;228	ENSP00000285737:M272I;ENSP00000445426:M228I	ENSP00000285737:M272I	M	+	3	0	LONP2	46852928	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.820000	0.48057	2.789000	0.95967	0.591000	0.81541	ATG		0.338	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		32	45	32	45	---	---	---	---
DHX40	79665	broad.mit.edu	37	17	57684397	57684397	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:57684397G>C	ENST00000251241.4	+	18	2351	c.2204G>C	c.(2203-2205)gGa>gCa	p.G735A	DHX40_ENST00000451169.2_Missense_Mutation_p.G687A|DHX40_ENST00000425628.3_Missense_Mutation_p.G658A	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	735							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTCAGATGGAATATCGAAA	0.358																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(2059-2061)gGa>gCa		DEAH (Asp-Glu-Ala-His) box polypeptide 40							57.0	61.0	59.0					17																	57684397		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57684397G>C	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.2204G>C	17.37:g.57684397G>C	ENSP00000251241:p.Gly735Ala		Somatic				DHX40_ENST00000425628.3_Missense_Mutation_p.G658A|DHX40_ENST00000251241.4_Missense_Mutation_p.G735A	p.G687A			WXS	Illumina GAIIx	Phase_I	Q8IX18	DHX40_HUMAN			21	2419	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		735					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.2060G>C	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	7.383	0.629233	0.14257	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000451169	T;T	0.03607	4.23;3.87	5.66	2.59	0.31030	.	0.366272	0.31092	N	0.008277	T	0.01905	0.0060	N	0.08118	0	0.44061	D	0.996803	B;B	0.14805	0.002;0.011	B;B	0.08055	0.003;0.003	T	0.49390	-0.8945	10	0.10111	T	0.7	.	10.4247	0.44371	0.2069:0.0:0.7931:0.0	.	658;735	F5H625;Q8IX18	.;DHX40_HUMAN	A	735;658;687	ENSP00000251241:G735A;ENSP00000396039:G687A	ENSP00000251241:G735A	G	+	2	0	DHX40	55039179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.057000	0.30492	1.401000	0.46761	0.561000	0.74099	GGA		0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		11	12	11	12	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430640	12430640	+	Missense_Mutation	SNP	T	T	G	rs367747553	byFrequency	TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:12430640T>G	ENST00000293725.5	-	4	404	c.199A>C	c.(199-201)Atg>Ctg	p.M67L	ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTCTACCATATGACATCTG	0.308																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(199-201)Atg>Ctg		zinc finger protein 563							86.0	88.0	87.0					19																	12430640		2202	4300	6502	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430640T>G	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.199A>C	19.37:g.12430640T>G	ENSP00000293725:p.Met67Leu		Somatic				ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	p.M67L	NM_145276.2	NP_660319.1	WXS	Illumina GAIIx	Phase_I	Q8TA94	ZN563_HUMAN			4	404	-			67			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.199A>C	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	4.136	0.023527	0.08006	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.06528	3.29	0.724	0.724	0.18236	Krueppel-associated box (1);	.	.	.	.	T	0.02494	0.0076	N	0.04297	-0.235	0.09310	N	1	B;B	0.23990	0.095;0.002	B;B	0.18561	0.022;0.003	T	0.44452	-0.9327	9	0.34782	T	0.22	.	2.728	0.05219	0.0:0.3311:0.0:0.6689	.	67;67	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	L	67	ENSP00000293725:M67L	ENSP00000293725:M67L	M	-	1	0	ZNF563	12291640	.	.	0.035000	0.18076	0.013000	0.08279	.	.	0.558000	0.29135	0.260000	0.18958	ATG		0.308	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		29	46	29	46	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934878	30934878	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:30934878A>G	ENST00000355537.3	+	2	556	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	137					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCTGCGGCAAGCGCTTCCG	0.632																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(409-411)Aag>Gag		zinc finger protein 536							67.0	55.0	59.0					19																	30934878		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934878A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.409A>G	19.37:g.30934878A>G	ENSP00000347730:p.Lys137Glu		Somatic					p.K137E	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			2	556	+	Esophageal squamous(110;0.0834)		137					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.409A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318246	0.60524	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.32530	0.975	0.51012	D	0.999909	D;D	0.76494	0.999;0.997	D;D	0.79784	0.957;0.993	T	0.00842	-1.1544	10	0.87932	D	0	-32.4923	15.6506	0.77088	1.0:0.0:0.0:0.0	.	137;137	A7E228;O15090	.;ZN536_HUMAN	E	137	ENSP00000347730:K137E	ENSP00000347730:K137E	K	+	1	0	ZNF536	35626718	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.332000	0.96446	2.109000	0.64355	0.379000	0.24179	AAG		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	48	10	48	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35753475	35753475	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:35753475C>T	ENST00000361790.3	+	5	961	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000427250.1_Intron|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000602122.1_Silent_p.L249L	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	268					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGTGGTATGCCTGGCTGCCTT	0.622																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(745-747)Ctg>Ttg		lipolysis stimulated lipoprotein receptor							156.0	125.0	136.0					19																	35753475		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753475C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.802C>T	19.37:g.35753475C>T			Somatic				LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000427250.1_Intron|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000361790.3_Silent_p.L268L	p.L249L			WXS	Illumina GAIIx	Phase_I	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1232	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		268					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.745C>T	CCDS12450.1																																																																																				0.622	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		23	80	23	80	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44099419	44099419	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:44099419G>A	ENST00000602269.1	-	1	257	c.72C>T	c.(70-72)atC>atT	p.I24I	L34079.2_ENST00000594374.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000422989.1_Silent_p.I24I|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(70-72)atC>atT		immunity-related GTPase family, Q							29.0	27.0	27.0					19																	44099419		2119	4164	6283	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44099419G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.72C>T	19.37:g.44099419G>A			Somatic				IRGQ_ENST00000602269.1_Silent_p.I24I	p.I24I	NM_001007561.2	NP_001007562.1	WXS	Illumina GAIIx	Phase_I	Q8WZA9	IRGQ_HUMAN			2	227	-		Prostate(69;0.0199)	24					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.72C>T	CCDS33040.1																																																																																				0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		18	47	18	47	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49797195	49797195	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:49797195G>A	ENST00000335875.4	-	9	1748	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	SLC6A16_ENST00000454748.3_Silent_p.L503L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	503					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAACATCAGGAAGAAGATA	0.493																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1507-1509)Ctg>Ttg		solute carrier family 6, member 16							156.0	160.0	158.0					19																	49797195		2018	4182	6200	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797195G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1507C>T	19.37:g.49797195G>A			Somatic				SLC6A16_ENST00000335875.4_Silent_p.L503L	p.L503L			WXS	Illumina GAIIx	Phase_I	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1708	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	503					Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.1507C>T	CCDS42590.1																																																																																				0.493	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		33	54	33	54	---	---	---	---
C22orf23	84645	broad.mit.edu	37	22	38340508	38340508	+	Silent	SNP	C	C	T	rs542624188		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:38340508C>T	ENST00000249079.2	-	6	754	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C22orf23_ENST00000403026.1_Silent_p.Q166Q|C22orf23_ENST00000403305.1_Silent_p.Q166Q			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	166										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CTTTCCTCTCCTGGATTTCCT	0.537																																						ENST00000249079.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(496-498)caG>caA		chromosome 22 open reading frame 23							75.0	71.0	72.0					22																	38340508		2203	4300	6503	SO:0001819	synonymous_variant	84645							g.chr22:38340508C>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.498G>A	22.37:g.38340508C>T			Somatic				C22orf23_ENST00000403026.1_Silent_p.Q166Q|C22orf23_ENST00000403305.1_Silent_p.Q166Q	p.Q166Q			WXS	Illumina GAIIx	Phase_I	Q9BZE7	EVG1_HUMAN			6	754	-	Melanoma(58;0.045)		166					Q5JYU9|Q96M68	Silent	SNP	ENST00000249079.2	37	c.498G>A	CCDS13962.1																																																																																				0.537	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		3	45	3	45	---	---	---	---
CXorf23	256643	broad.mit.edu	37	X	19984249	19984249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrX:19984249G>A	ENST00000379682.4	-	2	593	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379687.3_Missense_Mutation_p.S187L			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	187						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTCTAGTTGACTGGGAGTA	0.408																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(559-561)tCa>tTa		chromosome X open reading frame 23							144.0	127.0	132.0					X																	19984249		1842	4099	5941	SO:0001583	missense	256643					mitochondrion		g.chrX:19984249G>A	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.560C>T	X.37:g.19984249G>A	ENSP00000369004:p.Ser187Leu		Somatic				CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379682.4_Missense_Mutation_p.S187L	p.S187L	NM_198279.3	NP_938020.2	WXS	Illumina GAIIx	Phase_I	A2AJT9	CX023_HUMAN			2	593	-			187					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.560C>T		.	.	.	.	.	.	.	.	.	.	G	13.94	2.387645	0.42308	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.17213	2.29;2.29;2.29	5.91	5.02	0.67125	.	.	.	.	.	T	0.14270	0.0345	L	0.32530	0.975	0.32719	N	0.51056	B;B	0.17268	0.021;0.021	B;B	0.19946	0.027;0.027	T	0.12293	-1.0553	8	.	.	.	.	12.5383	0.56154	0.0854:0.0:0.9146:0.0	.	187;187	A2AJT9-2;A2AJT9	.;CX023_HUMAN	L	187;187;187;75	ENSP00000369009:S187L;ENSP00000369004:S187L;ENSP00000349470:S187L	.	S	-	2	0	CXorf23	19894170	1.000000	0.71417	0.546000	0.28166	0.989000	0.77384	2.888000	0.48594	1.172000	0.42781	0.556000	0.70494	TCA		0.408	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		27	7	27	7	---	---	---	---
RBKS	64080	broad.mit.edu	37	2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:28004505_28004506insT	ENST00000302188.3	-	8	1697_1698	c.945_946insA	c.(943-948)aaagacfs	p.D316fs	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	316					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(943-948)aaagacfs		ribokinase																																				SO:0001589	frameshift_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28004505_28004506insT	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.946dupA	2.37:g.28004511_28004511dupT	ENSP00000306817:p.Asp316fs		Somatic				AC110084.1_ENST00000601759.1_Intron	p.D316fs	NM_022128.1	NP_071411.1	WXS	Illumina GAIIx	Phase_I	Q9H477	RBSK_HUMAN			8	1697_1698	-	Acute lymphoblastic leukemia(172;0.155)		316					A9UK04|B4DV96	Frame_Shift_Ins	INS	ENST00000302188.3	37	c.945_946insA	CCDS1762.1																																																																																				0.421	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		38	67	38	67	---	---	---	---
