#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IRF2BP1	26145	broad.mit.edu	37	19	46388153	46388153	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:46388153G>A	ENST00000302165.3	-	1	1223	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AACATCTGGCGAGCCACTGCC	0.592																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(880-882)Cgc>Tgc		interferon regulatory factor 2 binding protein 1							39.0	45.0	43.0					19																	46388153		2203	4300	6503	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388153G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.880C>T	19.37:g.46388153G>A	ENSP00000307265:p.Arg294Cys						p.R294C	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1223	-		all_neural(266;0.113)|Ovarian(192;0.127)	294					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.880C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002226	0.54254	.	.	ENSG00000170604	ENST00000302165	T	0.21361	2.01	4.66	4.66	0.58398	.	0.177690	0.30840	N	0.008767	T	0.17959	0.0431	L	0.40543	1.245	0.44061	D	0.996808	B	0.09022	0.002	B	0.04013	0.001	T	0.03576	-1.1023	10	0.87932	D	0	.	10.186	0.42998	0.0:0.0:0.8015:0.1984	.	294	Q8IU81	I2BP1_HUMAN	C	294	ENSP00000307265:R294C	ENSP00000307265:R294C	R	-	1	0	IRF2BP1	51079993	0.998000	0.40836	0.998000	0.56505	0.922000	0.55478	2.832000	0.48152	2.406000	0.81754	0.555000	0.69702	CGC		0.592	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		5	167	0	0	0	1	0	5	167				
SDK2	54549	broad.mit.edu	37	17	71344825	71344825	+	Silent	SNP	C	C	G	rs150319493	byFrequency	TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:71344825C>G	ENST00000392650.3	-	44	6078	c.6078G>C	c.(6076-6078)tcG>tcC	p.S2026S	SDK2_ENST00000388726.3_Silent_p.S2007S|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2026					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CATCCTCATCCGAGTAGTGCA	0.642																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6076-6078)tcG>tcC		sidekick cell adhesion molecule 2							62.0	57.0	59.0					17																	71344825		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71344825C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6078G>C	17.37:g.71344825C>G						SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.S2007S	p.S2026S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			44	6078	-			2026					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.6078G>C	CCDS45769.1																																																																																				0.642	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	56	0	0	0	1	0	4	56				
ZNF750	79755	broad.mit.edu	37	17	80788321	80788321	+	Silent	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:80788321C>T	ENST00000269394.3	-	3	2702	c.1869G>A	c.(1867-1869)gcG>gcA	p.A623A	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.A224A|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	623					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCTGTCCACCGCGCATGCGT	0.711																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1867-1869)gcG>gcA		zinc finger protein 750							28.0	30.0	29.0					17																	80788321		2201	4299	6500	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788321C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1869G>A	17.37:g.80788321C>T						TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.A224A	p.A623A	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2702	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	623					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1869G>A	CCDS11819.1																																																																																				0.711	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		17	58	0	0	0	1	0	17	58				
SLC9C2	284525	broad.mit.edu	37	1	173506126	173506126	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:173506126C>A	ENST00000367714.3	-	14	2032	c.1610G>T	c.(1609-1611)cGg>cTg	p.R537L	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R435L	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	537					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AATTAATATCCGGGCTGCCTC	0.308																																						ENST00000367714.3																			0											c.(1609-1611)cGg>cTg		solute carrier family 9, member C2 (putative)							145.0	148.0	147.0					1																	173506126		2203	4297	6500	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173506126C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1610G>T	1.37:g.173506126C>A	ENSP00000356687:p.Arg537Leu					SLC9C2_ENST00000536496.1_Missense_Mutation_p.R435L|SLC9C2_ENST00000466087.1_5'UTR	p.R537L	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			14	2032	-			537					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1610G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063160	0.76187	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.24723	1.84;1.84	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000079	T	0.35128	0.0921	L	0.60455	1.87	0.30260	N	0.79325	D	0.89917	1.0	D	0.73380	0.98	T	0.09862	-1.0655	10	0.44086	T	0.13	-16.7085	14.9302	0.70908	0.0:1.0:0.0:0.0	.	537	Q5TAH2	S9A11_HUMAN	L	537;435	ENSP00000356687:R537L;ENSP00000445437:R435L	ENSP00000356687:R537L	R	-	2	0	SLC9A11	171772749	0.982000	0.34865	1.000000	0.80357	0.862000	0.49288	0.968000	0.29357	2.591000	0.87537	0.508000	0.49915	CGG		0.308	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		24	132	1	0	6.32553e-13	1	7.18211e-13	24	132				
C5orf38	153571	broad.mit.edu	37	5	2752842	2752842	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:2752842G>T	ENST00000334000.3	+	2	424	c.307G>T	c.(307-309)Gcg>Tcg	p.A103S	C5orf38_ENST00000397835.4_Missense_Mutation_p.A103S|C5orf38_ENST00000515640.1_Missense_Mutation_p.A103S|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000505778.1_Missense_Mutation_p.A103S|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000457752.2_Intron	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	103						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCTCAGGTTGGCGCCGCCGGT	0.637																																						ENST00000515640.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(307-309)Gcg>Tcg		chromosome 5 open reading frame 38							52.0	57.0	56.0					5																	2752842		2203	4300	6503	SO:0001583	missense	153571					extracellular region		g.chr5:2752842G>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.307G>T	5.37:g.2752842G>T	ENSP00000334267:p.Ala103Ser					C5orf38_ENST00000505778.1_Missense_Mutation_p.A103S|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.A103S|C5orf38_ENST00000397835.4_Missense_Mutation_p.A103S|IRX2_ENST00000502957.1_5'UTR	p.A103S			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	326	+			103						Missense_Mutation	SNP	ENST00000334000.3	37	c.307G>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645885	0.29246	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	1.98	1.06	0.20224	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.35182	0.197	T	0.11991	-1.0565	8	0.87932	D	0	.	6.2371	0.20768	0.0:0.3185:0.6815:0.0	.	103	Q86SI9	CEI_HUMAN	S	103	.	ENSP00000334267:A103S	A	+	1	0	C5orf38	2805842	0.077000	0.21312	0.002000	0.10522	0.029000	0.11900	1.824000	0.39072	0.372000	0.24591	0.313000	0.20887	GCG		0.637	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		58	63	1	0	1.64591e-14	1	1.88847e-14	58	63				
PRLR	5618	broad.mit.edu	37	5	35084594	35084594	+	Silent	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:35084594A>C	ENST00000382002.5	-	5	777	c.351T>G	c.(349-351)ctT>ctG	p.L117L	PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Silent_p.L117L|PRLR_ENST00000397391.3_Silent_p.L46L|PRLR_ENST00000310101.5_Silent_p.L117L|PRLR_ENST00000231423.3_Silent_p.L117L|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Silent_p.L117L|PRLR_ENST00000348262.3_Silent_p.L117L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	117	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CGTCCACATAAAGTTCATCCG	0.453																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(349-351)ctT>ctG		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						227.0	212.0	217.0					5																	35084594		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35084594A>C		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.351T>G	5.37:g.35084594A>C						PRLR_ENST00000231423.3_Silent_p.L117L|PRLR_ENST00000348262.3_Silent_p.L117L|PRLR_ENST00000310101.5_Silent_p.L117L|PRLR_ENST00000397391.3_Silent_p.L46L|PRLR_ENST00000513753.1_Silent_p.L117L|PRLR_ENST00000542609.1_Silent_p.L117L|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000509934.1_5'UTR	p.L117L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	777	-	all_lung(31;3.83e-05)		117			Fibronectin type-III 1.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.351T>G	CCDS3909.1																																																																																				0.453	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	190	0	0	0	1	0	4	190				
SLC5A8	160728	broad.mit.edu	37	12	101561910	101561910	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:101561910G>A	ENST00000536262.2	-	11	1842	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCCAAAGCGAACAGGCCCA	0.398																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1282-1284)ttC>ttT		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							99.0	83.0	88.0					12																	101561910		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101561910G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1284C>T	12.37:g.101561910G>A							p.F428F	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			11	1842	-			428						Silent	SNP	ENST00000536262.2	37	c.1284C>T	CCDS9080.1																																																																																				0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	16	0	0	0	1	0	4	16				
ZNF174	7727	broad.mit.edu	37	16	3452156	3452156	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:3452156G>A	ENST00000268655.4	+	1	737	c.152G>A	c.(151-153)cGc>cAc	p.R51H	ZSCAN32_ENST00000422427.2_5'Flank|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.R51H|ZSCAN32_ENST00000304926.3_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.R51H|ZNF174_ENST00000575752.1_Missense_Mutation_p.R51H|ZNF174_ENST00000571936.1_Missense_Mutation_p.R51H|ZSCAN32_ENST00000439568.2_5'Flank|ZSCAN32_ENST00000396852.4_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	51					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCTTCAGACGCTTTTGTTAT	0.547																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(151-153)cGc>cAc		zinc finger protein 174							122.0	139.0	133.0					16																	3452156		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452156G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.152G>A	16.37:g.3452156G>A	ENSP00000268655:p.Arg51His					ZNF174_ENST00000575752.1_Missense_Mutation_p.R51H|ZNF174_ENST00000571936.1_Missense_Mutation_p.R51H|ZNF174_ENST00000344823.5_Missense_Mutation_p.R51H|ZNF174_ENST00000572544.1_Missense_Mutation_p.R51H|LA16c-306E5.2_ENST00000575785.1_RNA	p.R51H	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			1	737	+			51					Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.152G>A	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336213	0.41398	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.04234	3.67;3.67	4.5	-2.28	0.06826	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.721167	0.12187	N	0.491535	T	0.01940	0.0061	N	0.02765	-0.5	0.22918	N	0.998567	B;B;B	0.14805	0.002;0.011;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.47407	-0.9120	10	0.23891	T	0.37	.	9.0403	0.36314	0.6662:0.0:0.3338:0.0	.	51;51;51	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	H	51	ENSP00000339781:R51H;ENSP00000268655:R51H	ENSP00000268655:R51H	R	+	2	0	ZNF174	3392157	0.000000	0.05858	0.419000	0.26584	0.966000	0.64601	-0.266000	0.08631	-0.376000	0.07943	0.655000	0.94253	CGC		0.547	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		8	388	0	0	0	1	0	8	388				
TBX2	6909	broad.mit.edu	37	17	59485535	59485535	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:59485535G>A	ENST00000240328.3	+	7	2088	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	603	Ala-rich.				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						cgccgcagccgccgGCTCCCT	0.701																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1807-1809)Gcc>Acc		T-box 2							15.0	18.0	17.0					17																	59485535		2181	4279	6460	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59485535G>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1807G>A	17.37:g.59485535G>A	ENSP00000240328:p.Ala603Thr					RP11-332H18.4_ENST00000592009.1_RNA	p.A603T	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			7	2088	+			603			Ala-rich.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1807G>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081018	0.36758	.	.	ENSG00000121068	ENST00000240328	D	0.86694	-2.16	5.01	5.01	0.66863	.	0.377447	0.30020	N	0.010616	T	0.79787	0.4506	N	0.24115	0.695	0.39906	D	0.973969	P	0.52842	0.956	B	0.39299	0.296	D	0.84356	0.0535	10	0.62326	D	0.03	.	17.061	0.86547	0.0:0.0:1.0:0.0	.	603	Q13207	TBX2_HUMAN	T	603	ENSP00000240328:A603T	ENSP00000240328:A603T	A	+	1	0	TBX2	56840317	1.000000	0.71417	0.538000	0.28064	0.126000	0.20510	4.077000	0.57598	2.608000	0.88229	0.655000	0.94253	GCC		0.701	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		5	59	0	0	0	1	0	5	59				
FCGBP	8857	broad.mit.edu	37	19	40411752	40411752	+	Silent	SNP	G	G	A	rs368041735		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:40411752G>A	ENST00000221347.6	-	7	3883	c.3876C>T	c.(3874-3876)gcC>gcT	p.A1292A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTGCAGGACGGCAAACCGAT	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3874-3876)gcC>gcT		Fc fragment of IgG binding protein		G		1,4403	2.1+/-5.4	0,1,2201	52.0	51.0	51.0		3876	-9.1	0.0	19		51	0,8552		0,0,4276	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6477	AA,AG,GG		0.0,0.0227,0.0077		1292/5406	40411752	1,12955	2202	4276	6478	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40411752G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3876C>T	19.37:g.40411752G>A							p.A1292A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3883	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1292			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.3876C>T	CCDS12546.1																																																																																				0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		75	137	0	0	0	1	0	75	137				
TMX4	56255	broad.mit.edu	37	20	7963214	7963214	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:7963214T>C	ENST00000246024.2	-	8	949	c.734A>G	c.(733-735)gAg>gGg	p.E245G		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	245	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tttttcctcctcCGCATCCTG	0.423																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(733-735)gAg>gGg		thioredoxin-related transmembrane protein 4							89.0	70.0	76.0					20																	7963214		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963214T>C		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.734A>G	20.37:g.7963214T>C	ENSP00000246024:p.Glu245Gly						p.E245G	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	949	-			245			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.734A>G	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096956	0.76870	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.84	5.84	0.93424	.	0.408400	0.25604	N	0.029538	T	0.34687	0.0906	M	0.65975	2.015	0.46901	D	0.999244	D	0.89917	1.0	D	0.80764	0.994	T	0.03673	-1.1014	10	0.56958	D	0.05	-10.4814	12.6028	0.56506	0.0:0.0:0.0:1.0	.	245	Q9H1E5	TMX4_HUMAN	G	245	ENSP00000246024:E245G	ENSP00000246024:E245G	E	-	2	0	TMX4	7911214	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.560000	0.53763	2.230000	0.72887	0.455000	0.32223	GAG		0.423	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		9	25	0	0	0	1	0	9	25				
MT-CYB	4519	broad.mit.edu	37	M	15617	15617	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrM:15617G>A	ENST00000361789.2	+	1	871	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	MT-TE_ENST00000387459.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	291					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						AACTAGGAGGCGTCCTTGCCC	0.468											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(871-873)Gtc>Atc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15617G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.871G>A	M.37:g.15617G>A	ENSP00000354554:p.Val291Ile		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.291_291insI							1	871	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.871G>A																																																																																					0.468	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		4	170	0	0	0	1	0	4	170				
ABCB9	23457	broad.mit.edu	37	12	123435080	123435080	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123435080C>A	ENST00000542678.1	-	3	3472	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	ABCB9_ENST00000344275.7_Missense_Mutation_p.A212S|ABCB9_ENST00000346530.5_Missense_Mutation_p.A212S|ABCB9_ENST00000280560.8_Missense_Mutation_p.A212S|ABCB9_ENST00000442833.2_Missense_Mutation_p.A212S|ABCB9_ENST00000442028.2_Missense_Mutation_p.A212S|ABCB9_ENST00000392439.3_Missense_Mutation_p.A212S|ABCB9_ENST00000540285.1_Missense_Mutation_p.A212S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	212	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.A212T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCATCAATGGCGCGGCCCGTG	0.632																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			1	Substitution - Missense(1)	p.A212T(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(634-636)Gcc>Tcc		ATP-binding cassette, sub-family B (MDR/TAP), member 9							106.0	79.0	88.0					12																	123435080		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123435080C>A	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.634G>T	12.37:g.123435080C>A	ENSP00000440288:p.Ala212Ser					ABCB9_ENST00000346530.5_Missense_Mutation_p.A212S|ABCB9_ENST00000442028.2_Missense_Mutation_p.A212S|ABCB9_ENST00000344275.7_Missense_Mutation_p.A212S|ABCB9_ENST00000540285.1_Missense_Mutation_p.A212S|ABCB9_ENST00000280560.8_Missense_Mutation_p.A212S|ABCB9_ENST00000392439.3_Missense_Mutation_p.A212S|ABCB9_ENST00000442833.2_Missense_Mutation_p.A212S	p.A212S			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	3	3472	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		212			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.634G>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552603	0.65425	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.6	5.6	0.85130	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053759	0.64402	D	0.000001	D	0.89255	0.6663	L	0.34521	1.04	0.44780	D	0.997783	P;P;B;P	0.44195	0.673;0.643;0.271;0.828	P;B;B;P	0.49953	0.574;0.413;0.113;0.627	D	0.90198	0.4255	10	0.87932	D	0	-40.4307	19.6116	0.95608	0.0:1.0:0.0:0.0	.	212;212;212;212	B4E2J0;Q9NP78-3;Q9NP78-2;Q9NP78	.;.;.;ABCB9_HUMAN	S	212	ENSP00000280560:A212S;ENSP00000441734:A212S;ENSP00000280559:A212S;ENSP00000376234:A212S;ENSP00000440288:A212S;ENSP00000394898:A212S	ENSP00000280560:A212S	A	-	1	0	ABCB9	122001033	1.000000	0.71417	0.970000	0.41538	0.713000	0.41058	4.721000	0.61951	2.651000	0.90000	0.561000	0.74099	GCC		0.632	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		3	45	1	0	0.115264	1	0.117418	3	45				
URGCP	55665	broad.mit.edu	37	7	43918018	43918018	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:43918018A>C	ENST00000453200.1	-	6	1537	c.1044T>G	c.(1042-1044)ttT>ttG	p.F348L	URGCP_ENST00000447717.3_Missense_Mutation_p.F305L|URGCP_ENST00000223341.7_Missense_Mutation_p.F305L|URGCP_ENST00000443736.1_Missense_Mutation_p.F305L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.F339L|URGCP_ENST00000336086.6_Missense_Mutation_p.F305L|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	348					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAAGAGCTTAAACTGCAGCC	0.463																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(913-915)ttT>ttG		upregulator of cell proliferation							78.0	77.0	77.0					7																	43918018		1921	4145	6066	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918018A>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1044T>G	7.37:g.43918018A>C	ENSP00000396918:p.Phe348Leu					URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.F305L|URGCP_ENST00000402306.3_Missense_Mutation_p.F339L|URGCP_ENST00000447717.3_Missense_Mutation_p.F305L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.F348L|URGCP_ENST00000223341.7_Missense_Mutation_p.F305L	p.F305L			Q8TCY9	URGCP_HUMAN			4	3151	-			348					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.915T>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991860	0.54041	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.08458	3.1;3.1;3.1;3.1;3.09;3.1	5.48	-4.22	0.03800	.	0.111036	0.64402	D	0.000011	T	0.08133	0.0203	L	0.46670	1.46	0.24985	N	0.991572	P;P	0.42518	0.782;0.782	B;B	0.40375	0.327;0.327	T	0.07158	-1.0787	10	0.38643	T	0.18	-21.1107	15.4264	0.75055	0.2878:0.0:0.7122:0.0	.	339;348	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	305;305;339;305;348;305	ENSP00000223341:F305L;ENSP00000336872:F305L;ENSP00000384955:F339L;ENSP00000392136:F305L;ENSP00000396918:F348L;ENSP00000402803:F305L	ENSP00000223341:F305L	F	-	3	2	URGCP	43884543	0.023000	0.18921	0.959000	0.39883	0.988000	0.76386	-0.725000	0.04942	-0.817000	0.04335	-0.326000	0.08463	TTT		0.463	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		48	65	0	0	0	1	0	48	65				
CASR	846	broad.mit.edu	37	3	122003445	122003445	+	Missense_Mutation	SNP	A	A	C	rs193922437		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:122003445A>C	ENST00000490131.1	+	7	3016	c.2644A>C	c.(2644-2646)Aag>Cag	p.K882Q	CASR_ENST00000296154.5_Missense_Mutation_p.K882Q|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.K892Q	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	882	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCACGCTTTCAAGGTGGCTGC	0.622																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2674-2676)Aag>Cag		calcium-sensing receptor	Cinacalcet(DB01012)						36.0	36.0	36.0					3																	122003445		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003445A>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2644A>C	3.37:g.122003445A>C	ENSP00000418685:p.Lys882Gln					CASR_ENST00000296154.5_Missense_Mutation_p.K882Q|CASR_ENST00000490131.1_Missense_Mutation_p.K882Q	p.K892Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3112	+			882			Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2674A>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586560	0.66105	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89552	-2.52;-2.53;-2.52	5.89	5.89	0.94794	.	0.048036	0.85682	D	0.000000	D	0.85596	0.5733	L	0.34521	1.04	0.58432	D	0.999993	P;P	0.49090	0.919;0.919	P;P	0.45343	0.477;0.477	D	0.84674	0.0713	10	0.30854	T	0.27	.	15.4934	0.75629	1.0:0.0:0.0:0.0	.	892;882	E7ENE0;P41180	.;CASR_HUMAN	Q	882;892;882	ENSP00000418685:K882Q;ENSP00000420194:K892Q;ENSP00000296154:K882Q	ENSP00000296154:K882Q	K	+	1	0	CASR	123486135	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.157000	0.94714	2.254000	0.74563	0.459000	0.35465	AAG		0.622	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		28	37	0	0	0	1	0	28	37				
ZNF267	10308	broad.mit.edu	37	16	31927691	31927691	+	Silent	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:31927691G>T	ENST00000300870.10	+	4	2330	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	707					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTACACATCGGAGAAGTCATA	0.438																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(2119-2121)cgG>cgT		zinc finger protein 267							95.0	87.0	90.0					16																	31927691		2197	4300	6497	SO:0001819	synonymous_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927691G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2121G>T	16.37:g.31927691G>T						RP11-170L3.8_ENST00000575471.1_RNA	p.R707R	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	2330	+			707					A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	c.2121G>T	CCDS32440.1																																																																																				0.438	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		25	17	1	0	1.1804e-14	1	1.36876e-14	25	17				
UBA1	7317	broad.mit.edu	37	X	47074220	47074220	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:47074220G>A	ENST00000335972.6	+	26	3252	c.3069G>A	c.(3067-3069)tcG>tcA	p.S1023S	UBA1_ENST00000377351.4_Silent_p.S1023S|UBA1_ENST00000377269.3_Silent_p.S471S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1023					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGTGTGTCGAAGCGAAAGC	0.602																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3067-3069)tcG>tcA		ubiquitin-like modifier activating enzyme 1							86.0	62.0	70.0					X																	47074220		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47074220G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.3069G>A	X.37:g.47074220G>A						UBA1_ENST00000377351.4_Silent_p.S1023S|UBA1_ENST00000377269.3_Silent_p.S471S	p.S1023S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			26	3252	+			1023					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.3069G>A	CCDS14275.1																																																																																				0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		7	215	0	0	0	1	0	7	215				
ARSK	153642	broad.mit.edu	37	5	94891003	94891003	+	Silent	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:94891003G>C	ENST00000380009.4	+	1	226	c.21G>C	c.(19-21)tcG>tcC	p.S7S	ARSK_ENST00000504763.1_Silent_p.S7S|TTC37_ENST00000358746.2_5'Flank	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	7					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGTGGGTGTCGGTGGTCGCAG	0.692																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(19-21)tcG>tcC		arylsulfatase family, member K							19.0	23.0	22.0					5																	94891003		2201	4294	6495	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94891003G>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.21G>C	5.37:g.94891003G>C						ARSK_ENST00000504763.1_Silent_p.S7S	p.S7S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	1	226	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	7					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.21G>C	CCDS4073.1																																																																																				0.692	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		3	11	0	0	0	1	0	3	11				
PTPRZ1	5803	broad.mit.edu	37	7	121652768	121652768	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:121652768A>G	ENST00000393386.2	+	12	4079	c.3668A>G	c.(3667-3669)cAt>cGt	p.H1223R	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1223					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAATGTTGCATCTCATTGTA	0.398																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3667-3669)cAt>cGt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							165.0	164.0	164.0					7																	121652768		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652768A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3668A>G	7.37:g.121652768A>G	ENSP00000377047:p.His1223Arg					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.H1223R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	4079	+			1223					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3668A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	8.991	0.977670	0.18812	.	.	ENSG00000106278	ENST00000393386	T	0.44083	0.93	5.51	4.33	0.51752	.	0.340415	0.25503	N	0.030232	T	0.40719	0.1128	M	0.62723	1.935	0.80722	D	1	P	0.46395	0.877	B	0.41860	0.368	T	0.30090	-0.9990	10	0.54805	T	0.06	.	9.4398	0.38661	0.7174:0.0:0.0:0.2826	.	1223	P23471	PTPRZ_HUMAN	R	1223	ENSP00000377047:H1223R	ENSP00000377047:H1223R	H	+	2	0	PTPRZ1	121440004	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	1.926000	0.40084	0.877000	0.35895	0.454000	0.30748	CAT		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	140	0	0	0	1	0	5	140				
ADIPOR1	51094	broad.mit.edu	37	1	202915580	202915580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:202915580C>T	ENST00000340990.5	-	4	715	c.417G>A	c.(415-417)tgG>tgA	p.W139*	ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.W139*|ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.W139*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	139					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCAGATGGGTCCAGATGTTGC	0.478																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(415-417)tgG>tgA		adiponectin receptor 1							144.0	131.0	136.0					1																	202915580		2203	4300	6503	SO:0001587	stop_gained	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202915580C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.417G>A	1.37:g.202915580C>T	ENSP00000341785:p.Trp139*					ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.W139*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.W139*	p.W139*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	715	-			139					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Nonsense_Mutation	SNP	ENST00000340990.5	37	c.417G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587930	0.98374	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000341785:W139X	W	-	3	0	ADIPOR1	201182203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG		0.478	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		34	145	0	0	0	1	0	34	145				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	81	0	0	0	1	0	4	81				
OR51T1	401665	broad.mit.edu	37	11	4903359	4903359	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr11:4903359T>C	ENST00000322049.1	+	1	230	c.230T>C	c.(229-231)aTt>aCt	p.I77T	OR51T1_ENST00000380378.1_Missense_Mutation_p.I104T|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTGACCATTACGACCCTT	0.443																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(310-312)aTt>aCt		olfactory receptor, family 51, subfamily T, member 1							209.0	188.0	195.0					11																	4903359		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903359T>C	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.230T>C	11.37:g.4903359T>C	ENSP00000322679:p.Ile77Thr					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.I77T	p.I104T	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	311	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	77					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.311T>C		.	.	.	.	.	.	.	.	.	.	T	9.858	1.195606	0.22037	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.01745	4.66;4.66	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.505935	0.16515	N	0.211079	T	0.01387	0.0045	N	0.05031	-0.125	0.09310	N	1	P	0.43231	0.801	B	0.43990	0.438	T	0.53180	-0.8475	10	0.49607	T	0.09	.	6.7498	0.23482	0.0:0.1039:0.0:0.8961	.	77	Q8NGJ9	O51T1_HUMAN	T	104;77	ENSP00000369738:I104T;ENSP00000322679:I77T	ENSP00000322679:I77T	I	+	2	0	OR51T1	4859935	0.000000	0.05858	0.642000	0.29436	0.627000	0.37826	0.954000	0.29175	1.923000	0.55706	0.397000	0.26171	ATT		0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		20	20	0	0	0	1	0	20	20				
C16orf90	646174	broad.mit.edu	37	16	3543946	3543946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:3543946G>A	ENST00000437192.3	-	3	444	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	138										large_intestine(1)	1						GGACTAGGCTGGGGGAGGGCA	0.627																																						ENST00000437192.3																			0				large_intestine(1)	1						c.(442-444)Cag>Tag		chromosome 16 open reading frame 90							23.0	25.0	24.0					16																	3543946		1893	4100	5993	SO:0001587	stop_gained	646174							g.chr16:3543946G>A		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.442C>T	16.37:g.3543946G>A	ENSP00000401335:p.Gln148*					LA16c-306E5.3_ENST00000574423.2_RNA	p.Q148*	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN			3	444	-			138						Nonsense_Mutation	SNP	ENST00000437192.3	37	c.442C>T	CCDS45397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.106644|3.106644	0.56291|0.56291	.|.	.|.	ENSG00000215131|ENSG00000215131	ENST00000399645|ENST00000437192	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.649769	.|0.11656	.|U	.|0.542337	T|.	0.74665|.	0.3746|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72686|.	-0.4218|.	5|.	0.51188|0.62326	T|D	0.08|0.03	-3.1405|-3.1405	15.0163|15.0163	0.71588|0.71588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	156|148	.|.	ENSP00000382553:P156L|ENSP00000401335:Q148X	P|Q	-|-	2|1	0|0	C16orf90|C16orf90	3483947|3483947	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.417000|0.417000	0.31264|0.31264	4.711000|4.711000	0.61881|0.61881	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.627	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		6	13	0	0	0	1	0	6	13				
PPP1R3A	5506	broad.mit.edu	37	7	113518383	113518383	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:113518383C>T	ENST00000284601.3	-	4	2832	c.2764G>A	c.(2764-2766)Gaa>Aaa	p.E922K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	922					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTGAAATTTCAGTATGATGT	0.378																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2764-2766)Gaa>Aaa		protein phosphatase 1, regulatory subunit 3A							100.0	101.0	101.0					7																	113518383		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518383C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2764G>A	7.37:g.113518383C>T	ENSP00000284601:p.Glu922Lys						p.E922K	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2832	-			922					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2764G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.121011	0.00031	.	.	ENSG00000154415	ENST00000284601	T	0.12569	2.67	5.52	1.87	0.25490	.	0.729502	0.13058	N	0.417090	T	0.03564	0.0102	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43829	-0.9367	10	0.02654	T	1	-4.7676	4.83	0.13435	0.0:0.2363:0.1493:0.6144	.	922	Q16821	PPR3A_HUMAN	K	922	ENSP00000284601:E922K	ENSP00000284601:E922K	E	-	1	0	PPP1R3A	113305619	0.605000	0.26941	0.002000	0.10522	0.001000	0.01503	0.642000	0.24735	0.072000	0.16694	-0.312000	0.09012	GAA		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		41	71	0	0	0	1	0	41	71				
DFNB31	25861	broad.mit.edu	37	9	117240804	117240804	+	Intron	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:117240804G>T	ENST00000362057.3	-	2	1006				DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000374057.3_Missense_Mutation_p.P289H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTCTGAGAGGCTGGCCTCC	0.612																																						ENST00000374057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(865-867)cCt>cAt		deafness, autosomal recessive 31							43.0	42.0	42.0					9																	117240804		2203	4300	6503	SO:0001627	intron_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117240804G>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.837+28C>A	9.37:g.117240804G>T						DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron	p.P289H			Q9P202	WHRN_HUMAN			2	1514	-			289			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.866C>A	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336965	0.41398	.	.	ENSG00000095397	ENST00000374057	T	0.17054	2.3	4.05	-2.53	0.06326	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.50970	0.655	T	0.19128	-1.0315	8	0.51188	T	0.08	.	8.8036	0.34923	0.6299:0.0:0.3701:0.0	.	289	Q9P202-2	.	H	289	ENSP00000363170:P289H	ENSP00000363170:P289H	P	-	2	0	DFNB31	116280625	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.116000	0.10724	-0.397000	0.07691	0.407000	0.27541	CCT		0.612	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		16	2	1	0	4.14922e-12	1	4.61495e-12	16	2				
KNTC1	9735	broad.mit.edu	37	12	123075167	123075167	+	Missense_Mutation	SNP	G	G	A	rs199554625		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123075167G>A	ENST00000333479.7	+	41	4190	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1338					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTAATTGTCGCTTGGTAGAT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16024	0.0		0.0	False		,,,				2504	0.0					ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4012-4014)cGc>cAc		kinetochore associated 1							220.0	202.0	208.0					12																	123075167		1841	4097	5938	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123075167G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4013G>A	12.37:g.123075167G>A	ENSP00000328236:p.Arg1338His					KNTC1_ENST00000450485.2_Intron	p.R1338H	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	41	4190	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1338					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4013G>A	CCDS45002.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.1	3.932228	0.73442	.	.	ENSG00000184445	ENST00000333479	T	0.16897	2.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	B	0.41988	0.372	T	0.01626	-1.1309	10	0.45353	T	0.12	-11.638	13.8554	0.63524	0.0731:0.0:0.9269:0.0	.	1338	P50748	KNTC1_HUMAN	H	1338	ENSP00000328236:R1338H	ENSP00000328236:R1338H	R	+	2	0	KNTC1	121641120	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.322000	0.59215	2.650000	0.89964	0.585000	0.79938	CGC		0.368	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	124	0	0	0	1	0	5	124				
ZNF711	7552	broad.mit.edu	37	X	84526455	84526455	+	Missense_Mutation	SNP	A	A	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:84526455A>T	ENST00000373165.3	+	9	2213	c.1907A>T	c.(1906-1908)aAg>aTg	p.K636M	ZNF711_ENST00000395402.1_Missense_Mutation_p.K644M|ZNF711_ENST00000542798.1_Missense_Mutation_p.K478M|ZNF711_ENST00000360700.4_Missense_Mutation_p.K682M|ZNF711_ENST00000276123.3_Missense_Mutation_p.K636M	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	636					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGCTCAAAAAGCATAGTGAT	0.403																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(2044-2046)aAg>aTg		zinc finger protein 711							78.0	62.0	68.0					X																	84526455		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526455A>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1907A>T	X.37:g.84526455A>T	ENSP00000362260:p.Lys636Met					ZNF711_ENST00000373165.3_Missense_Mutation_p.K636M|ZNF711_ENST00000276123.3_Missense_Mutation_p.K636M|ZNF711_ENST00000395402.1_Missense_Mutation_p.K644M|ZNF711_ENST00000542798.1_Missense_Mutation_p.K478M	p.K682M			Q9Y462	ZN711_HUMAN			10	2931	+			636	RCK -> GCT (in Ref. 4; CAA39837).				B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.2045A>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851980	0.51270	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.5	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.45606	D	0.000342	T	0.29256	0.0728	L	0.33093	0.98	0.46654	D	0.999148	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.979	T	0.01488	-1.1342	10	0.72032	D	0.01	-11.9286	11.0095	0.47654	0.8584:0.0:0.0:0.1416	.	682;636	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	M	644;636;636;682;478	ENSP00000378798:K644M;ENSP00000362260:K636M;ENSP00000276123:K636M;ENSP00000353922:K682M;ENSP00000442071:K478M	ENSP00000276123:K636M	K	+	2	0	ZNF711	84413111	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.339000	0.96797	0.696000	0.31696	0.417000	0.27973	AAG		0.403	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		7	45	0	0	0	1	0	7	45				
F9	2158	broad.mit.edu	37	X	138642950	138642950	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:138642950T>G	ENST00000218099.2	+	7	781	c.774T>G	c.(772-774)aaT>aaG	p.N258K	F9_ENST00000394090.2_Missense_Mutation_p.N220K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	258	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTATCGTTAATGAAAAATGGA	0.353																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940576	F9	M		c.(772-774)aaT>aaG		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						232.0	208.0	217.0					X																	138642950		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138642950T>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.774T>G	X.37:g.138642950T>G	ENSP00000218099:p.Asn258Lys					F9_ENST00000394090.2_Missense_Mutation_p.N220K	p.N258K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			7	781	+	Acute lymphoblastic leukemia(192;0.000127)		258			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.774T>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180412	0.57800	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93426	-3.22;-3.22	5.84	4.69	0.59074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.042501	0.85682	D	0.000000	D	0.94719	0.8296	L	0.54965	1.715	0.43603	D	0.995968	D;P	0.89917	1.0;0.928	D;P	0.85130	0.997;0.618	D	0.94391	0.7614	10	0.72032	D	0.01	.	8.3484	0.32288	0.0:0.0923:0.0:0.9077	.	220;258	Q5FBE1;P00740	.;FA9_HUMAN	K	258;220	ENSP00000218099:N258K;ENSP00000377650:N220K	ENSP00000218099:N258K	N	+	3	2	F9	138470616	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	0.666000	0.25097	1.962000	0.57031	0.441000	0.28932	AAT		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			4	108	0	0	0	1	0	4	108				
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2551-2553)ccG>ccC		tubby like protein 4							5.0	6.0	6.0					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2553G>C	6.37:g.158923248G>C						TULP4_ENST00000367094.2_Intron	p.P851P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		5	17	0	0	0	1	0	5	17				
DAAM1	23002	broad.mit.edu	37	14	59826213	59826213	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr14:59826213C>A	ENST00000395125.1	+	21	2677	c.2654C>A	c.(2653-2655)gCg>gAg	p.A885E	DAAM1_ENST00000351081.1_Missense_Mutation_p.A885E|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A875E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	885	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTCAAGCTGCGAAAGTAAAG	0.378																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2653-2655)gCg>gAg		dishevelled associated activator of morphogenesis 1							83.0	71.0	75.0					14																	59826213		2202	4299	6501	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59826213C>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2654C>A	14.37:g.59826213C>A	ENSP00000378557:p.Ala885Glu					DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A875E|DAAM1_ENST00000351081.1_Missense_Mutation_p.A885E	p.A885E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	21	2677	+			885			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2654C>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108702	0.94292	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.21932	1.98;1.98;1.98	5.69	5.69	0.88448	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68334	-0.5436	10	0.56958	D	0.05	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	875;885	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	875;885;854;885	ENSP00000354162:A875E;ENSP00000247170:A885E;ENSP00000378557:A885E	ENSP00000247170:A885E	A	+	2	0	DAAM1	58895966	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.982000	0.70532	2.840000	0.97914	0.655000	0.94253	GCG		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		6	13	1	0	3.59834e-05	1	3.92219e-05	6	13				
NTRK1	4914	broad.mit.edu	37	1	156843598	156843598	+	Missense_Mutation	SNP	C	C	T	rs375878564		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:156843598C>T	ENST00000524377.1	+	8	1065	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	NTRK1_ENST00000392302.2_Missense_Mutation_p.R312W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342W|NTRK1_ENST00000368196.3_Missense_Mutation_p.R342W	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	342	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGAGACCGTGCGGCACGGGTG	0.632			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1024-1026)Cgg>Tgg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	56.0	40.0	45.0		934,1024,1024	5.2	1.0	1		45	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	312/761,342/791,342/797	156843598	1,13003	2203	4299	6502	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843598C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1024C>T	1.37:g.156843598C>T	ENSP00000431418:p.Arg342Trp	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.R342W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R312W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342W	p.R342W	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			8	1144	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		342			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1024C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205314	0.39003	0.0	1.16E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	6.17	5.19	0.71726	Immunoglobulin-like fold (1);	0.119055	0.37955	N	0.001861	T	0.37156	0.0993	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.89917	0.997;1.0;0.999;1.0	P;P;P;P	0.62560	0.881;0.764;0.719;0.904	T	0.08371	-1.0725	10	0.45353	T	0.12	.	15.3558	0.74425	0.2106:0.7894:0.0:0.0	.	342;342;342;312	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	W	312;342;342;342	ENSP00000376120:R312W;ENSP00000357179:R342W;ENSP00000431418:R342W;ENSP00000351486:R342W	ENSP00000351486:R342W	R	+	1	2	NTRK1	155110222	0.000000	0.05858	0.963000	0.40424	0.306000	0.27790	0.183000	0.16919	2.941000	0.99782	0.655000	0.94253	CGG		0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		23	17	0	0	0	1	0	23	17				
CACNA1S	779	broad.mit.edu	37	1	201047049	201047049	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:201047049A>G	ENST00000362061.3	-	11	1803	c.1577T>C	c.(1576-1578)gTg>gCg	p.V526A	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	526					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCGGAGCACGGAGATGCC	0.627																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1576-1578)gTg>gCg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						66.0	53.0	57.0					1																	201047049		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047049A>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1577T>C	1.37:g.201047049A>G	ENSP00000355192:p.Val526Ala					CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526A	p.V526A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			11	1803	-			526					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1577T>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615533	0.87359	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98512	-4.97;-4.97	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.67517	2.055	0.53005	D	0.999966	D	0.61697	0.99	D	0.68483	0.958	D	0.99712	1.1007	10	0.87932	D	0	.	14.3741	0.66862	1.0:0.0:0.0:0.0	.	526	Q13698	CAC1S_HUMAN	A	526	ENSP00000355192:V526A;ENSP00000356307:V526A	ENSP00000355192:V526A	V	-	2	0	CACNA1S	199313672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.303000	0.96183	1.860000	0.53959	0.519000	0.50382	GTG		0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	91	0	0	0	1	0	5	91				
MAGEB2	4113	broad.mit.edu	37	X	30236701	30236701	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:30236701C>T	ENST00000378988.4	+	2	105	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	2										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCATCATGCCTCGTGGTCA	0.527																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(4-6)Cct>Tct		melanoma antigen family B, 2							39.0	38.0	39.0					X																	30236701		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236701C>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.4C>T	X.37:g.30236701C>T	ENSP00000368273:p.Pro2Ser						p.P2S	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	105	+			2					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.4C>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419732	0.62622	.	.	ENSG00000099399	ENST00000378988	T	0.05447	3.44	3.43	2.52	0.30459	.	0.461000	0.22242	N	0.062661	T	0.18635	0.0447	M	0.72479	2.2	0.27499	N	0.952051	D	0.89917	1.0	D	0.97110	1.0	T	0.01814	-1.1268	10	0.45353	T	0.12	.	6.9911	0.24755	0.2706:0.7294:0.0:0.0	.	2	O15479	MAGB2_HUMAN	S	2	ENSP00000368273:P2S	ENSP00000368273:P2S	P	+	1	0	MAGEB2	30146622	1.000000	0.71417	0.982000	0.44146	0.321000	0.28281	2.786000	0.47790	0.778000	0.33520	0.513000	0.50165	CCT		0.527	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		6	38	0	0	0	1	0	6	38				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	15	1	0	2.56e-06	1	2.81859e-06	3	15				
PITPNM2	57605	broad.mit.edu	37	12	123494604	123494604	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123494604C>A	ENST00000542749.1	-	4	499	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.D146Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D146Y|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D146Y|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	146					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGCACAGGGTCTTTGACAATG	0.567																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(436-438)Gac>Tac		phosphatidylinositol transfer protein, membrane-associated 2							86.0	87.0	87.0					12																	123494604		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494604C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.436G>T	12.37:g.123494604C>A	ENSP00000437611:p.Asp146Tyr					PITPNM2_ENST00000546049.1_Missense_Mutation_p.D146Y|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D146Y|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D146Y	p.D146Y			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	641	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		146					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.436G>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718813	0.89205	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.50813	0.73;0.73;0.73	5.18	5.18	0.71444	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.86484	0.1793	10	0.87932	D	0	-41.025	19.0591	0.93080	0.0:1.0:0.0:0.0	.	146;146;146	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	Y	146	ENSP00000280562:D146Y;ENSP00000322218:D146Y;ENSP00000437611:D146Y	ENSP00000280562:D146Y	D	-	1	0	PITPNM2	122060557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GAC		0.567	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		62	54	1	0	7.92265e-33	1	9.48976e-33	62	54				
ZNF280B	140883	broad.mit.edu	37	22	22842866	22842866	+	Silent	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr22:22842866A>G	ENST00000406426.1	-	4	1600	c.858T>C	c.(856-858)agT>agC	p.S286S	ZNF280B_ENST00000360412.2_Silent_p.S286S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTAAAAGTCACTAAGTAACA	0.383																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(856-858)agT>agC		zinc finger protein 280B							121.0	113.0	115.0					22																	22842866		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842866A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.858T>C	22.37:g.22842866A>G						ZNF280B_ENST00000406426.1_Silent_p.S286S	p.S286S	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1633	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	286						Silent	SNP	ENST00000406426.1	37	c.858T>C	CCDS13799.1																																																																																				0.383	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		4	81	0	0	0	1	0	4	81				
DOCK5	80005	broad.mit.edu	37	8	25258522	25258522	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:25258522G>T	ENST00000276440.7	+	47	4910	c.4866G>T	c.(4864-4866)ttG>ttT	p.L1622F		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1622	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATGAGCGGTTGTCTTCTTGCT	0.483																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4864-4866)ttG>ttT		dedicator of cytokinesis 5							164.0	170.0	168.0					8																	25258522		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25258522G>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4866G>T	8.37:g.25258522G>T	ENSP00000276440:p.Leu1622Phe						p.L1622F	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	47	4910	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1622			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4866G>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867638	0.51588	.	.	ENSG00000147459	ENST00000276440	T	0.28454	1.61	5.88	5.0	0.66597	.	0.080263	0.50627	D	0.000102	T	0.38585	0.1046	M	0.76328	2.33	0.54753	D	0.999989	B	0.23540	0.087	B	0.33690	0.168	T	0.26052	-1.0114	10	0.46703	T	0.11	.	11.1537	0.48476	0.0707:0.1286:0.8007:0.0	.	1622	Q9H7D0	DOCK5_HUMAN	F	1622	ENSP00000276440:L1622F	ENSP00000276440:L1622F	L	+	3	2	DOCK5	25314439	1.000000	0.71417	0.849000	0.33467	0.958000	0.62258	2.718000	0.47236	1.462000	0.47948	0.655000	0.94253	TTG		0.483	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	140	1	0	0.00116845	1	0.00124863	6	140				
MT-ND1	4535	broad.mit.edu	37	M	3745	3745	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrM:3745G>A	ENST00000361390.2	+	1	439	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TY_ENST00000387409.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	147					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGTCACCCTAGCCATCATTC	0.453																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(439-441)Gcc>Acc		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3745G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.439G>A	M.37:g.3745G>A	ENSP00000354687:p.Ala147Thr						p.147_147insT							1	439	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.439G>A																																																																																					0.453	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		19	163	0	0	0	1	0	19	163				
ANO4	121601	broad.mit.edu	37	12	101295429	101295429	+	5'UTR	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:101295429A>C	ENST00000392977.3	+	0	76				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.S122R			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCCAGGTTTAAGTTTATCTAT	0.488										HNSCC(74;0.22)																												ENST00000538618.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(364-366)Agt>Cgt		anoctamin 4																																				SO:0001623	5_prime_UTR_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295429A>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.-135A>C	12.37:g.101295429A>C		HNSCC(74;0.22)				ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR	p.S122R			Q32M45	ANO4_HUMAN			4	364	+			0					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.364A>C		.	.	.	.	.	.	.	.	.	.	A	24.4	4.524774	0.85600	.	.	ENSG00000151572	ENST00000538618	T	0.74526	-0.85	5.45	5.45	0.79879	.	.	.	.	.	D	0.83727	0.5317	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85970	0.1476	6	0.87932	D	0	.	15.5164	0.75828	1.0:0.0:0.0:0.0	.	.	.	.	R	122	ENSP00000443751:S122R	ENSP00000443751:S122R	S	+	1	0	ANO4	99819560	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.742000	0.74843	2.066000	0.61787	0.533000	0.62120	AGT		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		6	47	0	0	0	1	0	6	47				
LRRC36	55282	broad.mit.edu	37	16	67400946	67400946	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:67400946T>C	ENST00000329956.6	+	8	800	c.781T>C	c.(781-783)Tcc>Ccc	p.S261P	LRRC36_ENST00000435835.3_Missense_Mutation_p.S140P|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.S140P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	261										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GCCTCGTCAGTCCACAGTCCG	0.433																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(781-783)Tcc>Ccc		leucine rich repeat containing 36							90.0	93.0	92.0					16																	67400946		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67400946T>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.781T>C	16.37:g.67400946T>C	ENSP00000329943:p.Ser261Pro					LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.S140P|LRRC36_ENST00000563189.1_Missense_Mutation_p.S140P|LRRC36_ENST00000290940.7_5'UTR	p.S261P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	8	800	+		Ovarian(137;0.192)	261					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.781T>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.500924	0.64298	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.45668	2.62;0.89	6.16	1.31	0.21738	.	0.930222	0.09269	N	0.825450	T	0.48187	0.1486	L	0.50333	1.59	0.28637	N	0.907347	B;D;B	0.63880	0.007;0.993;0.003	B;P;B	0.61201	0.016;0.885;0.004	T	0.36286	-0.9754	10	0.45353	T	0.12	0.8452	2.1037	0.03686	0.2695:0.0745:0.1405:0.5156	.	140;140;261	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	P	261;140	ENSP00000329943:S261P;ENSP00000411122:S140P	ENSP00000329943:S261P	S	+	1	0	LRRC36	65958447	0.413000	0.25400	0.265000	0.24526	0.902000	0.53008	0.170000	0.16663	-0.051000	0.13334	-0.297000	0.09499	TCC		0.433	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		5	102	0	0	0	1	0	5	102				
IQGAP1	8826	broad.mit.edu	37	15	90931626	90931626	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr15:90931626G>A	ENST00000268182.5	+	1	177	c.53G>A	c.(52-54)gGc>gAc	p.G18D	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G18D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	18					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCGCACTATGGCTGTGAGTGC	0.716																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(52-54)gGc>gAc		IQ motif containing GTPase activating protein 1																																				SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90931626G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.53G>A	15.37:g.90931626G>A	ENSP00000268182:p.Gly18Asp					IQGAP1_ENST00000560738.1_Missense_Mutation_p.G18D	p.G18D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		1	177	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		18					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.53G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	3.949	-0.012670	0.07727	.	.	ENSG00000140575	ENST00000268182	T	0.02656	4.21	3.51	2.59	0.31030	.	0.165435	0.43110	D	0.000615	T	0.07098	0.0180	M	0.61703	1.905	0.25416	N	0.988317	D	0.58970	0.984	P	0.54924	0.764	T	0.10730	-1.0617	10	0.66056	D	0.02	-8.051	6.5677	0.22521	0.1369:0.0:0.8631:0.0	.	18	P46940	IQGA1_HUMAN	D	18	ENSP00000268182:G18D	ENSP00000268182:G18D	G	+	2	0	IQGAP1	88732630	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	4.801000	0.62532	0.682000	0.31407	0.313000	0.20887	GGC		0.716	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		4	9	0	0	0	1	0	4	9				
MCMBP	79892	broad.mit.edu	37	10	121586918	121586918	+	IGR	SNP	T	T	A	rs140846782		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr10:121586918T>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.S399T|INPP5F_ENST00000361976.2_Missense_Mutation_p.S1009T	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACAGACACCTTCTCGGCCATC	0.453																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3025-3027)Tct>Act		inositol polyphosphate-5-phosphatase F							128.0	121.0	123.0					10																	121586918		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586918T>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586918T>A						INPP5F_ENST00000369080.3_Missense_Mutation_p.S399T	p.S1009T	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	3191	+		Lung NSC(174;0.109)|all_lung(145;0.142)	1009					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.3025T>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	6.962	0.547446	0.13312	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.50813	1.0;0.73	5.92	2.18	0.27775	.	0.300827	0.38548	N	0.001647	T	0.38746	0.1052	L	0.50333	1.59	0.80722	D	1	B;B	0.32245	0.361;0.181	B;B	0.32864	0.154;0.051	T	0.14144	-1.0483	10	0.36615	T	0.2	-4.6361	9.238	0.37477	0.0:0.2673:0.0:0.7327	.	399;1009	Q5W135;Q9Y2H2	.;SAC2_HUMAN	T	1009;399	ENSP00000354519:S1009T;ENSP00000358076:S399T	ENSP00000354519:S1009T	S	+	1	0	INPP5F	121576908	1.000000	0.71417	0.243000	0.24186	0.117000	0.20001	2.371000	0.44248	0.463000	0.27118	0.533000	0.62120	TCT		0.453	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		32	68	0	0	0	1	0	32	68				
ATP4A	495	broad.mit.edu	37	19	36047934	36047934	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:36047934C>G	ENST00000262623.3	-	12	1778	c.1750G>C	c.(1750-1752)Gta>Cta	p.V584L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	584					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGGCCTCTACGTCGAAGGCA	0.592																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1750-1752)Gta>Cta		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						79.0	74.0	76.0					19																	36047934		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36047934C>G		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1750G>C	19.37:g.36047934C>G	ENSP00000262623:p.Val584Leu						p.V584L	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1778	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		584					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1750G>C	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657276	0.29425	.	.	ENSG00000105675	ENST00000262623	T	0.78481	-1.18	5.14	1.79	0.24919	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.377447	0.20327	N	0.094509	T	0.57227	0.2039	N	0.13198	0.31	0.32177	N	0.580833	B	0.15930	0.015	B	0.28232	0.087	T	0.57568	-0.7789	10	0.66056	D	0.02	.	1.608	0.02687	0.1704:0.4806:0.1647:0.1843	.	584	P20648	ATP4A_HUMAN	L	584	ENSP00000262623:V584L	ENSP00000262623:V584L	V	-	1	0	ATP4A	40739774	0.767000	0.28508	0.891000	0.34965	0.168000	0.22595	0.052000	0.14163	1.399000	0.46721	0.591000	0.81541	GTA		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		41	149	0	0	0	1	0	41	149				
CRB1	23418	broad.mit.edu	37	1	197411423	197411423	+	Splice_Site	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:197411423G>T	ENST00000367400.3	+	11	4140		c.e11+1		CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000544212.1_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CS040833	CRB1	S		c.e11+1		crumbs homolog 1 (Drosophila)							198.0	182.0	187.0					1																	197411423		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197411423G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4005+1G>T	1.37:g.197411423G>T						RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR		NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			11	4140	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590390	0.86851	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195678046	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.916000	0.87491	2.629000	0.89072	0.591000	0.81541	.		0.478	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Intron	9	196	1	0	0.000274275	1	0.000296	9	196				
TRPM6	140803	broad.mit.edu	37	9	77377523	77377523	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:77377523G>C	ENST00000360774.1	-	26	4301	c.4064C>G	c.(4063-4065)cCt>cGt	p.P1355R	TRPM6_ENST00000361255.3_Missense_Mutation_p.P1350R|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1350R|TRPM6_ENST00000451710.3_Missense_Mutation_p.P1355R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1355R|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1355					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCTGAAAAAGGAACTCGCTT	0.478																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4063-4065)cCt>cGt		transient receptor potential cation channel, subfamily M, member 6							151.0	156.0	154.0					9																	77377523		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377523G>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4064C>G	9.37:g.77377523G>C	ENSP00000354006:p.Pro1355Arg					TRPM6_ENST00000449912.2_Missense_Mutation_p.P1350R|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1355R|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1355R|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1350R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	p.P1355R			Q9BX84	TRPM6_HUMAN			26	4301	-			1355					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4064C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904842	0.92035	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55760	0.59;0.59;0.59;0.59;0.5	5.49	4.6	0.57074	.	0.775938	0.12667	N	0.449108	T	0.52175	0.1718	L	0.32530	0.975	0.25233	N	0.989811	P;P;P	0.46512	0.808;0.879;0.879	B;P;P	0.48921	0.391;0.595;0.595	T	0.46748	-0.9169	10	0.62326	D	0.03	.	13.3697	0.60707	0.0747:0.0:0.9253:0.0	.	1355;1350;1350	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	R	1355;1355;1350;1350;1355;1018;1018	ENSP00000354006:P1355R;ENSP00000407341:P1355R;ENSP00000396672:P1350R;ENSP00000354962:P1350R;ENSP00000366060:P1355R	ENSP00000309693:P1018R	P	-	2	0	TRPM6	76567343	0.998000	0.40836	0.888000	0.34837	0.863000	0.49368	7.222000	0.78025	1.562000	0.49601	0.655000	0.94253	CCT		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	144	0	0	0	1	0	6	144				
FCN3	8547	broad.mit.edu	37	1	27697155	27697155	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:27697155G>T	ENST00000270879.4	-	7	595	c.590C>A	c.(589-591)aCc>aAc	p.T197N	FCN3_ENST00000354982.2_Missense_Mutation_p.T186N	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	197	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCGGAAGGTCGCATAGTG	0.577																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(589-591)aCc>aAc		ficolin (collagen/fibrinogen domain containing) 3							150.0	150.0	150.0					1																	27697155		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697155G>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.590C>A	1.37:g.27697155G>T	ENSP00000270879:p.Thr197Asn					FCN3_ENST00000354982.2_Missense_Mutation_p.T186N	p.T197N	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	595	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	197			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.590C>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825832	0.32237	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76578	-1.03;-1.03	4.62	1.25	0.21368	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	2.066920	0.02623	N	0.103407	T	0.61862	0.2381	N	0.05554	-0.025	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.007;0.006	T	0.50825	-0.8782	10	0.30854	T	0.27	.	9.1783	0.37125	0.0:0.3501:0.5086:0.1412	.	186;197	Q6UXM4;O75636	.;FCN3_HUMAN	N	197;186;75	ENSP00000270879:T197N;ENSP00000347077:T186N	ENSP00000270879:T197N	T	-	2	0	FCN3	27569742	0.074000	0.21230	0.011000	0.14972	0.478000	0.33099	1.212000	0.32394	0.580000	0.29522	0.558000	0.71614	ACC		0.577	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			5	120	1	0	0.0215528	1	0.0221627	5	120				
CHIAP2	149620	broad.mit.edu	37	1	111825692	111825692	+	RNA	SNP	C	C	T	rs201789917		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:111825692C>T	ENST00000369743.4	+	0	1237					NR_003928.1				chitinase, acidic pseudogene 2																		GCATCTCCAACATCCAGTCTG	0.507																																						ENST00000369743.4																			0																																																			0							g.chr1:111825692C>T			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825692C>T								NR_003928.1						0	1237	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.507	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			7	14	0	0	0	1	0	7	14				
ILKAP	80895	broad.mit.edu	37	2	239103471	239103471	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:239103471G>A	ENST00000254654.3	-	2	271	c.96C>T	c.(94-96)ctC>ctT	p.L32L	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	32					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGGCCGGAGGGAGGTCATCAA	0.473																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(94-96)ctC>ctT		integrin-linked kinase-associated serine/threonine phosphatase							114.0	107.0	109.0					2																	239103471		2203	4300	6503	SO:0001819	synonymous_variant	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239103471G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.96C>T	2.37:g.239103471G>A						ILKAP_ENST00000490837.1_5'UTR	p.L32L	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	2	271	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	32					B3KM39	Silent	SNP	ENST00000254654.3	37	c.96C>T	CCDS2526.1																																																																																				0.473	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		13	39	0	0	0	1	0	13	39				
ZNF282	8427	broad.mit.edu	37	7	148895722	148895722	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:148895722G>T	ENST00000262085.3	+	2	568	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	ZNF282_ENST00000479907.1_Missense_Mutation_p.G155W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	155					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGCCGTGCTGGGGACCCTGCT	0.647																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(463-465)Ggg>Tgg		zinc finger protein 282							56.0	63.0	61.0					7																	148895722		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148895722G>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.463G>T	7.37:g.148895722G>T	ENSP00000262085:p.Gly155Trp					ZNF282_ENST00000479907.1_Missense_Mutation_p.G155W	p.G155W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	2	568	+	Melanoma(164;0.15)		155					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.463G>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884489	0.51908	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.26223	1.75;1.75	4.26	4.26	0.50523	.	0.000000	0.43416	D	0.000568	T	0.46639	0.1403	M	0.62723	1.935	0.41513	D	0.988353	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.49331	-0.8951	10	0.87932	D	0	-32.9566	12.5196	0.56052	0.0:0.0:1.0:0.0	.	155;106;127;155	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	W	70;155;155	ENSP00000262085:G155W;ENSP00000418840:G155W	ENSP00000262085:G155W	G	+	1	0	ZNF282	148526655	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.688000	0.68227	2.096000	0.63516	0.313000	0.20887	GGG		0.647	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		5	185	1	0	0.014758	1	0.0154675	5	185				
RNF151	146310	broad.mit.edu	37	16	2018541	2018541	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:2018541G>T	ENST00000569714.1	+	4	361	c.353G>T	c.(352-354)tGc>tTc	p.C118F	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Missense_Mutation_p.C117F	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	118					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						AACGAGGGCTGCACCTCGCAG	0.697																																						ENST00000569714.1																			0				kidney(1)|lung(1)	2						c.(352-354)tGc>tTc		ring finger protein 151							14.0	15.0	15.0					16																	2018541		2021	4158	6179	SO:0001583	missense	146310				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2018541G>T	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"""RING-type (C3HC4) zinc fingers"""	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.353G>T	16.37:g.2018541G>T	ENSP00000456566:p.Cys118Phe					RNF151_ENST00000321392.3_Missense_Mutation_p.C117F|RNF151_ENST00000569210.2_3'UTR	p.C118F	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN			4	361	+			118					Q8NHS5	Missense_Mutation	SNP	ENST00000569714.1	37	c.353G>T	CCDS58405.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.110152	0.56398	.	.	ENSG00000179580	ENST00000321392	D	0.95137	-3.62	5.25	5.25	0.73442	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.87180	2.865	0.58432	D	0.999999	D	0.71674	0.998	D	0.68765	0.96	D	0.97810	1.0250	10	0.87932	D	0	-19.2379	14.3602	0.66766	0.0:0.0:1.0:0.0	.	118	Q2KHN1	RN151_HUMAN	F	117	ENSP00000325794:C117F	ENSP00000325794:C117F	C	+	2	0	RNF151	1958542	1.000000	0.71417	0.980000	0.43619	0.267000	0.26476	5.376000	0.66178	2.457000	0.83068	0.655000	0.94253	TGC		0.697	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		3	19	1	0	0.004672	1	0.00494416	3	19				
TANGO2	128989	broad.mit.edu	37	22	20024591	20024591	+	Intron	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr22:20024591A>G	ENST00000327374.4	+	2	234				TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000434570.2_Silent_p.E51E|TANGO2_ENST00000479679.1_Intron|TANGO2_ENST00000456048.1_Silent_p.E15E|TANGO2_ENST00000401833.1_Silent_p.E51E|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000447208.2_Intron|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000401886.1_Intron	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)																		AAAGACGTGAAGACTCAGCCA	0.602																																						ENST00000456048.1																			0											c.(43-45)gaA>gaG		transport and golgi organization 2 homolog (Drosophila)							109.0	103.0	105.0					22																	20024591		876	1991	2867	SO:0001627	intron_variant	128989							g.chr22:20024591A>G		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.56+214A>G	22.37:g.20024591A>G						TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000327374.4_Intron|TANGO2_ENST00000401833.1_Silent_p.E51E|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000447208.2_Intron|TANGO2_ENST00000434570.2_Silent_p.E51E|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000479679.1_Intron|TANGO2_ENST00000420290.2_Intron	p.E15E							1	45	+								A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	ENST00000327374.4	37	c.45A>G	CCDS13772.1																																																																																				0.602	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		4	124	0	0	0	1	0	4	124				
ZFYVE16	9765	broad.mit.edu	37	5	79734554	79734554	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:79734554G>A	ENST00000338008.5	+	3	2230	c.2050G>A	c.(2050-2052)Gtt>Att	p.V684I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V684I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V684I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	684					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGCAGATACCGTTGTTCCAAT	0.398																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2050-2052)Gtt>Att		zinc finger, FYVE domain containing 16							102.0	96.0	98.0					5																	79734554		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734554G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2050G>A	5.37:g.79734554G>A	ENSP00000337159:p.Val684Ile					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V684I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V684I	p.V684I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	2230	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	684					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2050G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.391585	0.01185	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.37915	1.17;1.17;1.17	5.82	-5.41	0.02648	.	1.404810	0.04333	N	0.352745	T	0.17323	0.0416	N	0.03608	-0.345	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.06405	0.002;0.001	T	0.33007	-0.9885	10	0.11794	T	0.64	0.4197	16.6318	0.85035	0.3898:0.0:0.6102:0.0	.	684;684	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	684	ENSP00000337159:V684I;ENSP00000423663:V684I;ENSP00000426848:V684I	ENSP00000337159:V684I	V	+	1	0	ZFYVE16	79770310	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.856000	0.04290	-0.845000	0.04179	-0.806000	0.03193	GTT		0.398	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		11	77	0	0	0	1	0	11	77				
FIG4	9896	broad.mit.edu	37	6	110081456	110081456	+	Missense_Mutation	SNP	C	C	G	rs377357931		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:110081456C>G	ENST00000230124.3	+	11	1265	c.1141C>G	c.(1141-1143)Cga>Gga	p.R381G	FIG4_ENST00000441478.2_Missense_Mutation_p.R104G	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	381	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATAAAGGAACGAGAGAAAAG	0.333																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(1141-1143)Cga>Gga		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							98.0	85.0	89.0					6																	110081456		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110081456C>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1141C>G	6.37:g.110081456C>G	ENSP00000230124:p.Arg381Gly					FIG4_ENST00000441478.2_Missense_Mutation_p.R104G	p.R381G	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	11	1265	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	381			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1141C>G	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564115	0.45694	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.54675	1.72;0.56	5.61	1.52	0.23074	Synaptojanin, N-terminal (2);	0.204013	0.42682	D	0.000680	T	0.61073	0.2318	M	0.72624	2.21	0.52501	D	0.99995	D;D	0.89917	0.979;1.0	P;D	0.76575	0.711;0.988	T	0.67209	-0.5728	10	0.62326	D	0.03	-13.163	15.4033	0.74858	0.4862:0.5138:0.0:0.0	.	104;381	F5H8L9;Q92562	.;FIG4_HUMAN	G	104;381	ENSP00000399443:R104G;ENSP00000230124:R381G	ENSP00000230124:R381G	R	+	1	2	FIG4	110188149	1.000000	0.71417	0.993000	0.49108	0.338000	0.28826	3.119000	0.50422	-0.023000	0.13963	-0.457000	0.05445	CGA		0.333	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		11	44	0	0	0	1	0	11	44				
GALNT2	2590	broad.mit.edu	37	1	230415077	230415077	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:230415077A>C	ENST00000366672.4	+	16	1661	c.1589A>C	c.(1588-1590)aAg>aCg	p.K530T	RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.K492T|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCAACTCCAAGCTGAGGCAC	0.582																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1588-1590)aAg>aCg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							68.0	62.0	64.0					1																	230415077		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230415077A>C	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1589A>C	1.37:g.230415077A>C	ENSP00000355632:p.Lys530Thr					GALNT2_ENST00000543760.1_Missense_Mutation_p.K492T|GALNT2_ENST00000485438.1_3'UTR	p.K530T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			16	1661	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	530			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1589A>C	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133795	0.37630	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.25749	1.78;1.78	5.45	4.32	0.51571	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.02985	-0.445	0.80722	D	1	P;P	0.41450	0.75;0.457	P;B	0.49047	0.599;0.319	T	0.16600	-1.0397	10	0.21014	T	0.42	.	11.287	0.49228	0.9282:0.0:0.0718:0.0	.	530;492	Q10471;G3V1S6	GALT2_HUMAN;.	T	492;530	ENSP00000445017:K492T;ENSP00000355632:K530T	ENSP00000355632:K530T	K	+	2	0	GALNT2	228481700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.477000	0.81069	0.914000	0.36822	0.402000	0.26972	AAG		0.582	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		33	40	0	0	0	1	0	33	40				
DMRT3	58524	broad.mit.edu	37	9	990202	990202	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:990202G>A	ENST00000190165.2	+	2	654	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	206					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A206T(1)|p.A69T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGGGGATACGCTGTCCAGAA	0.597																																						ENST00000190165.2																			2	Substitution - Missense(2)	p.A206T(1)|p.A69T(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(616-618)Gct>Act		doublesex and mab-3 related transcription factor 3							53.0	60.0	58.0					9																	990202		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990202G>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.616G>A	9.37:g.990202G>A	ENSP00000190165:p.Ala206Thr						p.A206T	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	654	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	206					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.616G>A	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	3.226	-0.158493	0.06544	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.31247	1.5;1.5	4.83	1.92	0.25849	.	0.561550	0.19667	N	0.108847	T	0.23806	0.0576	L	0.60455	1.87	0.09310	N	1	B	0.28880	0.226	B	0.19148	0.024	T	0.13899	-1.0492	10	0.33141	T	0.24	-8.6698	6.5479	0.22416	0.1529:0.2782:0.569:0.0	.	206	Q9NQL9	DMRT3_HUMAN	T	206;69	ENSP00000190165:A206T;ENSP00000387472:A69T	ENSP00000190165:A206T	A	+	1	0	DMRT3	980202	0.992000	0.36948	0.001000	0.08648	0.012000	0.07955	2.213000	0.42844	0.107000	0.17824	-0.232000	0.12228	GCT		0.597	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		12	109	0	0	0	1	0	12	109				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818733	159818733	+	RNA	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:159818733C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TAGGAGGGAACGAAGTCACCG	0.507																																						ENST00000497452.1																			0																																																			0							g.chr3:159818733C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818733C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.507	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			9	134	0	0	0	1	0	9	134				
TTC30B	150737	broad.mit.edu	37	2	178416032	178416032	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:178416032T>C	ENST00000408939.3	-	1	1710	c.1460A>G	c.(1459-1461)aAg>aGg	p.K487R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	487					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ATAATGCTTCTTGACTATGGG	0.383																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1459-1461)aAg>aGg		tetratricopeptide repeat domain 30B							79.0	81.0	80.0					2																	178416032		2168	4251	6419	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416032T>C	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1460A>G	2.37:g.178416032T>C	ENSP00000386181:p.Lys487Arg						p.K487R	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1710	-			487					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1460A>G	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	T	8.828	0.939271	0.18281	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.65364	-0.15	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);	0.043364	0.85682	D	0.000000	T	0.61185	0.2327	M	0.75085	2.285	0.58432	D	0.999995	B	0.27823	0.19	B	0.26614	0.071	T	0.59606	-0.7423	10	0.22109	T	0.4	.	14.7035	0.69171	0.0:0.0:0.0:1.0	.	487	Q8N4P2	TT30B_HUMAN	R	440;487	ENSP00000386181:K487R	ENSP00000386181:K487R	K	-	2	0	TTC30B	178124278	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.077000	0.57598	2.125000	0.65367	0.533000	0.62120	AAG		0.383	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		23	84	0	0	0	1	0	23	84				
ARHGEF18	23370	broad.mit.edu	37	19	7516088	7516088	+	Silent	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:7516088C>T	ENST00000359920.6	+	6	1480	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S367F|ARHGEF18_ENST00000319670.9_Silent_p.L251L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	409	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTGCATTCTCCTGGTTACAC	0.542																																						ENST00000593531.1																			0											c.(1099-1101)tCc>tTc									121.0	96.0	104.0					19																	7516088		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7516088C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1227C>T	19.37:g.7516088C>T						ARHGEF18_ENST00000319670.9_Silent_p.L251L|ARHGEF18_ENST00000359920.6_Silent_p.L409L	p.S367F							9	1100	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1100C>T	CCDS45946.1																																																																																				0.542	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		16	14	0	0	0	1	0	16	14				
SLC7A6	9057	broad.mit.edu	37	16	68308894	68308894	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:68308894C>T	ENST00000566454.1	+	4	534	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	SLC7A6_ENST00000219343.6_Missense_Mutation_p.L89F	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CATTGGTGGGCTCTTCTCTGT	0.552																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(265-267)Ctc>Ttc		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							141.0	141.0	141.0					16																	68308894		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68308894C>T	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.265C>T	16.37:g.68308894C>T	ENSP00000455064:p.Leu89Phe					SLC7A6_ENST00000219343.6_Missense_Mutation_p.L89F	p.L89F	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	4	534	+		Ovarian(137;0.0563)	89						Missense_Mutation	SNP	ENST00000566454.1	37	c.265C>T	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788301	0.49997	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.90069	-2.61;-2.61	5.69	3.62	0.41486	Amino acid permease domain (1);	0.172900	0.51477	D	0.000085	D	0.84511	0.5488	L	0.56340	1.77	0.36825	D	0.886594	B	0.21309	0.054	B	0.27262	0.078	T	0.82273	-0.0539	10	0.46703	T	0.11	.	6.2146	0.20648	0.2932:0.6128:0.0:0.0941	.	89	Q92536	YLAT2_HUMAN	F	89	ENSP00000219343:L89F;ENSP00000368448:L89F	ENSP00000219343:L89F	L	+	1	0	SLC7A6	66866395	0.940000	0.31905	1.000000	0.80357	0.998000	0.95712	0.592000	0.23984	1.407000	0.46875	0.650000	0.86243	CTC		0.552	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		4	97	0	0	0	1	0	4	97				
RPL12P38	645688	broad.mit.edu	37	17	58512711	58512711	+	RNA	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:58512711G>C	ENST00000588627.1	-	0	646									ribosomal protein L12 pseudogene 38																		AGCAGGTTTAGCAGACAACCT	0.522																																						ENST00000588627.1																			0																																																			0							g.chr17:58512711G>C			17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512711G>C														0	646	-									RNA	SNP	ENST00000588627.1	37																																																																																						0.522	RPL12P38-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000449464.1	NG_010298		4	30	0	0	0	1	0	4	30				
PCDHGA7	56108	broad.mit.edu	37	5	140764737	140764737	+	Silent	SNP	C	C	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:140764737C>G	ENST00000518325.1	+	1	2271	c.2271C>G	c.(2269-2271)gtC>gtG	p.V757V	PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	757					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGAGGTCTCCCTCACCG	0.562																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2269-2271)gtC>gtG									91.0	98.0	96.0					5																	140764737		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140764737C>G	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2271C>G	5.37:g.140764737C>G						PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.V757V	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2271	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.2271C>G	CCDS54927.1																																																																																				0.562	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		90	33	0	0	0	1	0	90	33				
MGAM	8972	broad.mit.edu	37	7	141736743	141736743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:141736743C>T	ENST00000549489.2	+	18	2292	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.R733*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	733	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTCACAGCCGAGGGGACAC	0.468																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2197-2199)Cga>Tga		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						197.0	200.0	199.0					7																	141736743		2013	4175	6188	SO:0001587	stop_gained	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736743C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2197C>T	7.37:g.141736743C>T	ENSP00000447378:p.Arg733*					MGAM_ENST00000549489.2_Nonsense_Mutation_p.R733*	p.R733*			O43451	MGA_HUMAN			18	2251	+	Melanoma(164;0.0272)		733			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.2197C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	41	8.545062	0.98857	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.81	3.85	0.44370	.	0.278577	0.25520	N	0.030113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.4382	0.38653	0.2853:0.5762:0.1385:0.0	.	.	.	.	X	733;733;610	.	ENSP00000316431:R610X	R	+	1	2	MGAM	141383212	0.002000	0.14202	0.998000	0.56505	0.977000	0.68977	0.876000	0.28092	1.409000	0.46915	0.650000	0.86243	CGA		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			53	193	0	0	0	1	0	53	193				
BRINP2	57795	broad.mit.edu	37	1	177247778	177247778	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:177247778G>A	ENST00000361539.4	+	7	1404	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	364					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCTGGGCCATGGACACCAGCC	0.567																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1090-1092)atG>atA									139.0	146.0	144.0					1																	177247778		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177247778G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1092G>A	1.37:g.177247778G>A	ENSP00000354481:p.Met364Ile					FAM5B_ENST00000478325.1_3'UTR	p.M364I	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1404	+			364					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1092G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968361	0.53614	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14022	2.54	5.39	5.39	0.77823	.	0.484707	0.26045	N	0.026662	T	0.16896	0.0406	L	0.48642	1.525	0.49130	D	0.999755	B;B;B	0.17268	0.003;0.021;0.002	B;B;B	0.23419	0.007;0.046;0.004	T	0.03795	-1.1003	10	0.29301	T	0.29	-8.8917	18.7504	0.91812	0.0:0.0:1.0:0.0	.	114;259;364	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	I	114;364	ENSP00000354481:M364I	ENSP00000354481:M364I	M	+	3	0	FAM5B	175514401	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.455000	0.60075	2.528000	0.85240	0.655000	0.94253	ATG		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		15	579	0	0	0	1	0	15	579				
MTUS2	23281	broad.mit.edu	37	13	29600313	29600313	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr13:29600313G>A	ENST00000431530.3	+	1	1566	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAAAGTGGCCGCTCAGAAGCA	0.498																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1507-1509)cGc>cAc		microtubule associated tumor suppressor candidate 2							80.0	85.0	83.0					13																	29600313		1972	4143	6115	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600313G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1508G>A	13.37:g.29600313G>A	ENSP00000392057:p.Arg503His						p.R503H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1566	+			493					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1508G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	11.19	1.565259	0.27915	.	.	ENSG00000132938	ENST00000431530	T	0.11712	2.75	5.92	-0.372	0.12520	.	1.333950	0.04700	N	0.415575	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41070	-0.9529	9	.	.	.	.	6.3083	0.21151	0.4874:0.1275:0.385:0.0	.	493	Q5JR59	MTUS2_HUMAN	H	503	ENSP00000392057:R503H	.	R	+	2	0	MTUS2	28498313	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.279000	0.08479	-0.121000	0.11787	-0.136000	0.14681	CGC		0.498	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		21	11	0	0	0	1	0	21	11				
SYCP2	10388	broad.mit.edu	37	20	58489063	58489063	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:58489063T>C	ENST00000357552.3	-	12	1022	c.797A>G	c.(796-798)aAc>aGc	p.N266S	SYCP2_ENST00000371001.2_Missense_Mutation_p.N266S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	266					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTACAAGGTTGAGAAATAT	0.299																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(796-798)aAc>aGc		synaptonemal complex protein 2							57.0	55.0	56.0					20																	58489063		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489063T>C	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.797A>G	20.37:g.58489063T>C	ENSP00000350162:p.Asn266Ser					SYCP2_ENST00000371001.2_Missense_Mutation_p.N266S	p.N266S			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		12	1022	-	all_lung(29;0.00344)		266					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.797A>G	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961124	0.74016	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04502	3.61;3.61;3.61	4.91	4.91	0.64330	.	0.084737	0.50627	D	0.000116	T	0.21881	0.0527	M	0.81497	2.545	0.39473	D	0.967758	D;D	0.69078	0.997;0.997	P;D	0.68353	0.894;0.957	T	0.02132	-1.1208	10	0.72032	D	0.01	-16.877	14.8546	0.70326	0.0:0.0:0.0:1.0	.	266;266	A2A341;Q9BX26	.;SYCP2_HUMAN	S	266	ENSP00000360040:N266S;ENSP00000350162:N266S;ENSP00000402456:N266S	ENSP00000350162:N266S	N	-	2	0	SYCP2	57922458	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.499000	0.81566	1.968000	0.57251	0.533000	0.62120	AAC		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		4	17	0	0	0	1	0	4	17				
MYO1F	4542	broad.mit.edu	37	19	8609289	8609289	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:8609289G>A	ENST00000338257.8	-	14	1683	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	472	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGCTCCCCCGCCCGTGGCGT	0.667																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1414-1416)ggC>ggT		myosin IF							22.0	29.0	26.0					19																	8609289		2088	4209	6297	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8609289G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1416C>T	19.37:g.8609289G>A							p.G472G	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			14	1683	-			472			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1416C>T	CCDS42494.1																																																																																				0.667	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			13	19	0	0	0	1	0	13	19				
PKHD1L1	93035	broad.mit.edu	37	8	110467013	110467013	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:110467013G>C	ENST00000378402.5	+	45	6910	c.6806G>C	c.(6805-6807)cGa>cCa	p.R2269P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2269	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTCACCTGCGATCTCCTGAG	0.493										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6805-6807)cGa>cCa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							126.0	124.0	125.0					8																	110467013		2043	4198	6241	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110467013G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6806G>C	8.37:g.110467013G>C	ENSP00000367655:p.Arg2269Pro	HNSCC(38;0.096)					p.R2269P	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		45	6910	+			2269			G8 1.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.6806G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885024	0.91814	.	.	ENSG00000205038	ENST00000378402	D	0.89196	-2.48	5.66	5.66	0.87406	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	L	0.47016	1.485	0.43137	D	0.994885	D	0.60575	0.988	D	0.66497	0.944	D	0.92422	0.5946	10	0.62326	D	0.03	.	17.6144	0.88064	0.0:0.0:1.0:0.0	.	2269	Q86WI1	PKHL1_HUMAN	P	2269	ENSP00000367655:R2269P	ENSP00000367655:R2269P	R	+	2	0	PKHD1L1	110536189	1.000000	0.71417	0.892000	0.35008	0.893000	0.52053	8.076000	0.89503	2.832000	0.97577	0.655000	0.94253	CGA		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		34	42	0	0	0	1	0	34	42				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	5	0	0	0	1	0	36	5				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	31	0	0	0	1	0	3	31				
KLHL34	257240	broad.mit.edu	37	X	21674488	21674488	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:21674488G>A	ENST00000379499.2	-	1	1960	c.1419C>T	c.(1417-1419)cgC>cgT	p.R473R		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	473						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						ACACAACACCGCGGTCCCCGA	0.701																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1417-1419)cgC>cgT		kelch-like family member 34							14.0	10.0	11.0					X																	21674488		2179	4251	6430	SO:0001819	synonymous_variant	257240							g.chrX:21674488G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1419C>T	X.37:g.21674488G>A							p.R473R	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1960	-			473						Silent	SNP	ENST00000379499.2	37	c.1419C>T	CCDS14199.1																																																																																				0.701	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		13	7	0	0	0	1	0	13	7				
SLC17A9	63910	broad.mit.edu	37	20	61588851	61588851	+	Missense_Mutation	SNP	G	G	A	rs201271567	byFrequency	TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:61588851G>A	ENST00000370351.4	+	3	447	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V100I|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	106					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CATCACGGCCGTCACCCCACT	0.632													G|||	6	0.00119808	0.0045	0.0	5008	,	,		23148	0.0		0.0	False		,,,				2504	0.0					ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(298-300)Gtc>Atc		solute carrier family 17 (vesicular nucleotide transporter), member 9		G	ILE/VAL	14,4278		0,14,2132	74.0	80.0	78.0		316	-1.0	0.1	20		78	0,8498		0,0,4249	yes	missense	SLC17A9	NM_022082.3	29	0,14,6381	AA,AG,GG		0.0,0.3262,0.1095	benign	106/437	61588851	14,12776	2146	4249	6395	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61588851G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.316G>A	20.37:g.61588851G>A	ENSP00000359376:p.Val106Ile					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V106I	p.V100I			Q9BYT1	S17A9_HUMAN			4	502	+			106					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.298G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.079002	0.01903	0.003262	0.0	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.58358	0.34;0.34;0.34	4.57	-0.993	0.10228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.436617	0.26642	N	0.023242	T	0.26521	0.0648	N	0.11698	0.16	0.09310	N	0.999996	B;B;B	0.19331	0.035;0.002;0.004	B;B;B	0.16289	0.015;0.005;0.003	T	0.09400	-1.0676	10	0.34782	T	0.22	.	5.8912	0.18915	0.4031:0.2227:0.3742:0.0	.	126;106;100	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	106;100;126	ENSP00000359376:V106I;ENSP00000359374:V100I;ENSP00000388215:V126I	ENSP00000359374:V100I	V	+	1	0	SLC17A9	61059296	0.043000	0.20138	0.066000	0.19879	0.009000	0.06853	0.289000	0.18957	-0.116000	0.11893	-0.921000	0.02739	GTC		0.632	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		6	81	0	0	0	1	0	6	81				
PCYT1A	5130	broad.mit.edu	37	3	195974349	195974349	+	Silent	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:195974349C>T	ENST00000292823.2	-	6	547	c.375G>A	c.(373-375)acG>acA	p.T125T	PCYT1A_ENST00000419333.1_Silent_p.T125T|PCYT1A_ENST00000431016.1_Silent_p.T125T|PCYT1A_ENST00000491544.1_5'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	125					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CGTTCATCACCGTGAAGCCTT	0.537																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(373-375)acG>acA		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						201.0	160.0	174.0					3																	195974349		2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195974349C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.375G>A	3.37:g.195974349C>T						PCYT1A_ENST00000419333.1_Silent_p.T125T|PCYT1A_ENST00000431016.1_Silent_p.T125T|PCYT1A_ENST00000491544.1_5'UTR	p.T125T	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	6	547	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		125			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.375G>A	CCDS3315.1																																																																																				0.537	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		30	106	0	0	0	1	0	30	106				
REV3L	5980	broad.mit.edu	37	6	111694285	111694285	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:111694285A>G	ENST00000358835.3	-	14	5727	c.5273T>C	c.(5272-5274)aTa>aCa	p.I1758T	REV3L_ENST00000435970.1_Missense_Mutation_p.I1680T|REV3L_ENST00000368802.3_Missense_Mutation_p.I1758T|REV3L_ENST00000368805.1_Missense_Mutation_p.I1758T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1758					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGAATCCATTATTGAGTTAGA	0.393								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5038-5040)aTa>aCa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							217.0	206.0	210.0					6																	111694285		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694285A>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5273T>C	6.37:g.111694285A>G	ENSP00000351697:p.Ile1758Thr					REV3L_ENST00000368802.3_Missense_Mutation_p.I1758T|REV3L_ENST00000358835.3_Missense_Mutation_p.I1758T|REV3L_ENST00000368805.1_Missense_Mutation_p.I1758T	p.I1680T			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5855	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1758					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5039T>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341395	0.24339	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01705	4.78;4.78;4.78;4.68	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000002	T	0.01421	0.0046	L	0.56769	1.78	0.30626	N	0.757941	P	0.48764	0.915	P	0.47827	0.558	T	0.54255	-0.8321	10	0.20519	T	0.43	-7.1652	9.9564	0.41668	0.925:0.0:0.0749:0.0	.	1758	O60673	DPOLZ_HUMAN	T	1758;1758;1758;1680	ENSP00000357792:I1758T;ENSP00000357795:I1758T;ENSP00000351697:I1758T;ENSP00000402003:I1680T	ENSP00000351697:I1758T	I	-	2	0	REV3L	111800978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.518000	0.45537	2.263000	0.75096	0.533000	0.62120	ATA		0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	195	0	0	0	1	0	5	195				
SSTR5	6755	broad.mit.edu	37	16	1129080	1129080	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:1129080T>C	ENST00000293897.4	+	1	300	c.212T>C	c.(211-213)aTg>aCg	p.M71T	SSTR5_ENST00000397547.2_Missense_Mutation_p.M71T|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Missense_Mutation_p.M71T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	71					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TTCGCCAAGATGAAGACCGTC	0.647																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(211-213)aTg>aCg		somatostatin receptor 5	Octreotide(DB00104)						92.0	67.0	75.0					16																	1129080		2192	4293	6485	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129080T>C	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.212T>C	16.37:g.1129080T>C	ENSP00000293897:p.Met71Thr					SSTR5_ENST00000562758.1_Missense_Mutation_p.M71T|SSTR5_ENST00000397547.2_Missense_Mutation_p.M71T	p.M71T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	300	+		Hepatocellular(780;0.00369)	71					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.212T>C	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	T	7.050	0.564344	0.13498	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19806	2.12;2.12	4.86	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.048643	0.85682	D	0.000000	T	0.27454	0.0674	M	0.80183	2.485	0.47698	D	0.999494	B	0.13145	0.007	B	0.21151	0.033	T	0.05818	-1.0862	10	0.56958	D	0.05	.	9.8067	0.40797	0.0:0.0827:0.0:0.9173	.	71	P35346	SSR5_HUMAN	T	71	ENSP00000380680:M71T;ENSP00000293897:M71T	ENSP00000293897:M71T	M	+	2	0	SSTR5	1069081	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.054000	0.49908	0.707000	0.31934	-0.589000	0.04120	ATG		0.647	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			15	22	0	0	0	1	0	15	22				
FLYWCH1	84256	broad.mit.edu	37	16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:2983818A>C	ENST00000253928.9	+	6	1756	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	451						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1351-1353)Acc>Ccc		FLYWCH-type zinc finger 1							14.0	19.0	17.0					16																	2983818		1914	4090	6004	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983818A>C	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1351A>C	16.37:g.2983818A>C	ENSP00000253928:p.Thr451Pro					FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P	p.T451P			Q4VC44	FWCH1_HUMAN			6	1714	+			451					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1351A>C		.	.	.	.	.	.	.	.	.	.	A	13.64	2.298727	0.40694	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.64	3.64	0.41730	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.56514	0.1990	L	0.40543	1.245	0.30391	N	0.78095	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.996;0.992;0.998	T	0.53704	-0.8401	8	0.54805	T	0.06	.	8.9563	0.35820	1.0:0.0:0.0:0.0	.	451;451;450	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	P	451;451;450	.	ENSP00000253928:T451P	T	+	1	0	FLYWCH1	2923819	0.982000	0.34865	0.998000	0.56505	0.220000	0.24768	2.685000	0.46959	1.884000	0.54569	0.379000	0.24179	ACC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		4	12	0	0	0	1	0	4	12				
MED12	9968	broad.mit.edu	37	X	70360623	70360623	+	Silent	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:70360623A>G	ENST00000374080.3	+	42	6215	c.6183A>G	c.(6181-6183)caA>caG	p.Q2061Q	MED12_ENST00000374102.1_Silent_p.Q2060Q|MED12_ENST00000333646.6_Silent_p.Q2064Q|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2061	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					agcaacagcaacagcagcagc	0.602			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6190-6192)caA>caG		mediator complex subunit 12							30.0	34.0	32.0					X																	70360623		2127	4118	6245	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360623A>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6183A>G	X.37:g.70360623A>G						MED12_ENST00000374080.3_Silent_p.Q2061Q|MED12_ENST00000374102.1_Silent_p.Q2060Q|MED12_ENST00000478889.1_3'UTR	p.Q2064Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6391	+	Renal(35;0.156)		2061			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.6192A>G	CCDS43970.1																																																																																				0.602	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	110	0	0	0	1	0	4	110				
ABCA7	10347	broad.mit.edu	37	19	1044627	1044627	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:1044627C>T	ENST00000263094.6	+	11	1330	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R367W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R229W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	367					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGAGGCCGGGACCACAT	0.657																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1099-1101)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 7							61.0	73.0	69.0					19																	1044627		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1044627C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1099C>T	19.37:g.1044627C>T	ENSP00000263094:p.Arg367Trp					ABCA7_ENST00000435683.2_Missense_Mutation_p.R229W|ABCA7_ENST00000433129.1_Missense_Mutation_p.R367W	p.R367W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1330	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	367					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1099C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809527	0.50421	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	2.79	-2.88	0.05682	.	.	.	.	.	T	0.68586	0.3017	N	0.00661	-1.28	0.09310	N	1	D;P	0.56521	0.976;0.927	P;P	0.54924	0.764;0.586	T	0.62558	-0.6829	9	0.66056	D	0.02	.	1.2685	0.02016	0.3782:0.309:0.1862:0.1266	.	229;367	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	367	ENSP00000263094:R367W;ENSP00000414062:R367W	ENSP00000263094:R367W	R	+	1	2	ABCA7	995627	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.421000	0.07053	-0.456000	0.07043	0.455000	0.32223	CGG		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		21	21	0	0	0	1	0	21	21				
TIMELESS	8914	broad.mit.edu	37	12	56817131	56817131	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:56817131G>C	ENST00000553532.1	-	18	2369	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G	TIMELESS_ENST00000229201.4_Missense_Mutation_p.A739G|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAAAGTAGGGCTTCCATTTT	0.502																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2215-2217)gCc>gGc		timeless circadian clock							152.0	141.0	144.0					12																	56817131		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817131G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2219C>G	12.37:g.56817131G>C	ENSP00000450607:p.Ala740Gly					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A740G	p.A739G	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			18	2370	-			740						Missense_Mutation	SNP	ENST00000553532.1	37	c.2216C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768237	0.49680	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.12039	2.72;2.72	5.61	5.61	0.85477	Timeless C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.38838	1.175	0.80722	D	1	B	0.29955	0.263	B	0.33392	0.163	T	0.07121	-1.0789	10	0.24483	T	0.36	-14.5641	18.7819	0.91937	0.0:0.0:1.0:0.0	.	740	Q9UNS1	TIM_HUMAN	G	739;740	ENSP00000229201:A739G;ENSP00000450607:A740G	ENSP00000229201:A740G	A	-	2	0	TIMELESS	55103398	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.200000	0.65158	2.815000	0.96918	0.561000	0.74099	GCC		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		28	82	0	0	0	1	0	28	82				
NPY	4852	broad.mit.edu	37	7	24324969	24324969	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:24324969G>A	ENST00000407573.1	+	3	400	c.110G>A	c.(109-111)gGc>gAc	p.G37D	NPY_ENST00000405982.1_Missense_Mutation_p.G37D|NPY_ENST00000242152.2_Missense_Mutation_p.G37D			P01303	NPY_HUMAN	neuropeptide Y	37					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACAACCCGGGCGAGGACGCA	0.672																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(109-111)gGc>gAc		neuropeptide Y							78.0	61.0	67.0					7																	24324969		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324969G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.110G>A	7.37:g.24324969G>A	ENSP00000384364:p.Gly37Asp					NPY_ENST00000405982.1_Missense_Mutation_p.G37D|NPY_ENST00000242152.2_Missense_Mutation_p.G37D	p.G37D			P01303	NPY_HUMAN			3	400	+			37						Missense_Mutation	SNP	ENST00000407573.1	37	c.110G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264546	0.95399	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.58797	0.31;0.31;0.31	5.86	5.86	0.93980	.	0.045543	0.85682	D	0.000000	T	0.79137	0.4395	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80500	-0.1355	9	0.87932	D	0	-21.214	20.1986	0.98248	0.0:0.0:1.0:0.0	.	37	P01303	NPY_HUMAN	D	37	ENSP00000242152:G37D;ENSP00000384364:G37D;ENSP00000385282:G37D	ENSP00000242152:G37D	G	+	2	0	NPY	24291494	1.000000	0.71417	0.651000	0.29564	0.820000	0.46376	7.838000	0.86804	2.781000	0.95711	0.650000	0.86243	GGC		0.672	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		16	28	0	0	0	1	0	16	28				
CTC-260E6.6	0	broad.mit.edu	37	19	20369191	20369191	+	RNA	SNP	T	T	C	rs568381181		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:20369191T>C	ENST00000593655.1	-	0	199																											GTGGGAAACATTGAAATCAAG	0.408													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20737	0.0		0.0	False		,,,				2504	0.0					ENST00000593655.1																			0																																																			0							g.chr19:20369191T>C																													19.37:g.20369191T>C														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.408	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			25	40	0	0	0	1	0	25	40				
ZFP90	146198	broad.mit.edu	37	16	68597568	68597568	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:68597568A>G	ENST00000570495.1	+	5	1170	c.878A>G	c.(877-879)cAt>cGt	p.H293R	ZFP90_ENST00000398253.2_Missense_Mutation_p.H293R|ZFP90_ENST00000563169.2_Missense_Mutation_p.H293R			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	293					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GCCTTCAGGCATAGCTCATCT	0.488																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(877-879)cAt>cGt		ZFP90 zinc finger protein							84.0	93.0	90.0					16																	68597568		2184	4292	6476	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597568A>G	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.878A>G	16.37:g.68597568A>G	ENSP00000460547:p.His293Arg					ZFP90_ENST00000563169.2_Missense_Mutation_p.H293R|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.H293R	p.H293R			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1170	+		Ovarian(137;0.192)	293					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.878A>G	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890446	0.33348	.	.	ENSG00000184939	ENST00000398253	T	0.17691	2.26	6.16	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	N	0.02539	-0.55	0.09310	N	0.999999	P	0.40360	0.714	B	0.37091	0.241	T	0.18147	-1.0346	9	0.20046	T	0.44	-11.2938	9.8846	0.41253	0.9214:0.0:0.0786:0.0	.	293	Q8TF47	ZFP90_HUMAN	R	293	ENSP00000381304:H293R	ENSP00000381304:H293R	H	+	2	0	ZFP90	67155069	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	0.899000	0.28417	2.367000	0.80283	0.528000	0.53228	CAT		0.488	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		54	30	0	0	0	1	0	54	30				
CCDC158	339965	broad.mit.edu	37	4	77290771	77290771	+	Silent	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr4:77290771A>G	ENST00000388914.3	-	10	1307	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	385										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTGTGTAGATCAGCCTAAA	0.408																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1153-1155)gaT>gaC		coiled-coil domain containing 158							73.0	72.0	72.0					4																	77290771		1924	4132	6056	SO:0001819	synonymous_variant	339965							g.chr4:77290771A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1155T>C	4.37:g.77290771A>G							p.D385D	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			10	1307	-			385					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1155T>C	CCDS43242.1																																																																																				0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		4	60	0	0	0	1	0	4	60				
TRPM4	54795	broad.mit.edu	37	19	49671542	49671542	+	Silent	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:49671542G>T	ENST00000252826.5	+	5	600	c.474G>T	c.(472-474)ctG>ctT	p.L158L	TRPM4_ENST00000427978.2_Silent_p.L158L|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	158					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGGGGGTCTGCACACGGGCA	0.607																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(472-474)ctG>ctT		transient receptor potential cation channel, subfamily M, member 4							95.0	95.0	95.0					19																	49671542		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671542G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.474G>T	19.37:g.49671542G>T						TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.L158L	p.L158L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	5	600	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	158					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.474G>T	CCDS33073.1																																																																																				0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		11	233	1	0	0.0167234	1	0.0173605	11	233				
WHSC1L1	54904	broad.mit.edu	37	8	38178629	38178629	+	Silent	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:38178629G>T	ENST00000317025.8	-	8	2287	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Silent_p.S590S|WHSC1L1_ENST00000527502.1_Silent_p.S590S|WHSC1L1_ENST00000316985.3_Silent_p.S590S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	590					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAACCTCAGTGGATTTCTCTG	0.358			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1768-1770)tcC>tcA		Wolf-Hirschhorn syndrome candidate 1-like 1							176.0	162.0	166.0					8																	38178629		2202	4300	6502	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38178629G>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1770C>A	8.37:g.38178629G>T						WHSC1L1_ENST00000527502.1_Silent_p.S590S|WHSC1L1_ENST00000316985.3_Silent_p.S590S|WHSC1L1_ENST00000433384.2_Silent_p.S590S	p.S590S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		8	2287	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	590					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.1770C>A	CCDS43729.1																																																																																				0.358	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		22	37	1	0	1.10513e-12	1	1.24185e-12	22	37				
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	lincRNA	SNP	G	G	A	rs11586784		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGGGCTCACGAACCTGCTGC	0.662																																						ENST00000412962.1																			0																																																			0							g.chr1:16946336G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946336G>A														0	1183	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	30	0	0	0	1	0	4	30				
PRDM8	56978	broad.mit.edu	37	4	81123237	81123237	+	Silent	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000339711.4_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(619-621)ggC>ggT		PR domain containing 8							24.0	31.0	29.0					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G	p.G207G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1852	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			5	88	0	0	0	1	0	5	88				
PASK	23178	broad.mit.edu	37	2	242062240	242062240	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:242062240G>A	ENST00000405260.1	-	12	3677	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	PASK_ENST00000234040.4_Silent_p.G993G|PASK_ENST00000544142.1_Silent_p.G807G|PASK_ENST00000403638.3_Silent_p.G993G|PASK_ENST00000539818.1_Silent_p.G777G|PASK_ENST00000358649.4_Silent_p.G993G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	993					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGAGTACTCGCCCTCACAGG	0.587																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2977-2979)ggC>ggT		PAS domain containing serine/threonine kinase							76.0	79.0	78.0					2																	242062240		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242062240G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2979C>T	2.37:g.242062240G>A						PASK_ENST00000539818.1_Silent_p.G777G|PASK_ENST00000405260.1_Silent_p.G993G|PASK_ENST00000544142.1_Silent_p.G807G|PASK_ENST00000234040.4_Silent_p.G993G|PASK_ENST00000358649.4_Silent_p.G993G	p.G993G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	12	3070	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	993					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2979C>T	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		26	71	0	0	0	1	0	26	71				
ZNF676	163223	broad.mit.edu	37	19	22375867	22375867	+	Silent	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:22375867T>C	ENST00000397121.2	-	2	398	c.81A>G	c.(79-81)ggA>ggG	p.G27G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		G -> E (in dbSNP:rs8104929).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGGCTCTTTTCCTTGCTCCA	0.403																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(79-81)ggA>ggG		zinc finger protein 676							99.0	120.0	113.0					19																	22375867		1511	2709	4220	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22375867T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.81A>G	19.37:g.22375867T>C							p.G27G	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			2	398	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	27		G -> E (in dbSNP:rs8104929).	KRAB.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.81A>G	CCDS42539.1																																																																																				0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		4	104	0	0	0	1	0	4	104				
KIRREL3	84623	broad.mit.edu	37	11	126305176	126305176	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr11:126305176G>A	ENST00000525144.2	-	13	1824	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000525704.2_Silent_p.A525A|KIRREL3_ENST00000529097.2_Intron	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	525					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTTCCAGCCCGGCTCCCGACT	0.607																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1573-1575)gcC>gcT		kin of IRRE like 3 (Drosophila)							67.0	74.0	72.0					11																	126305176		1898	4107	6005	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126305176G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1575C>T	11.37:g.126305176G>A						KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000525704.2_Silent_p.A525A	p.A525A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	13	1824	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	525					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1575C>T	CCDS53723.1																																																																																				0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		32	5	0	0	0	1	0	32	5				
TPRN	286262	broad.mit.edu	37	9	140086700	140086700	+	Intron	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:140086700C>T	ENST00000409012.4	-	3	2160				TPRN_ENST00000321773.2_Missense_Mutation_p.G634E|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin						sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTCCACTCCCCCGCATCTCAC	0.662																																						ENST00000321773.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1900-1902)gGg>gAg		taperin							44.0	51.0	48.0					9																	140086700		2203	4300	6503	SO:0001627	intron_variant	286262				sensory perception of sound	stereocilium		g.chr9:140086700C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2073+10G>A	9.37:g.140086700C>T						TPRN_ENST00000409012.4_Intron	p.G634E			Q4KMQ1	TPRN_HUMAN			3	1900	-			691					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.1901G>A	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	7.571	0.666686	0.14710	.	.	ENSG00000176058	ENST00000333046;ENST00000321773	.	.	.	2.13	1.22	0.21188	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	0.52906	T	0.07	.	4.6844	0.12750	0.0:0.8094:0.0:0.1906	.	.	.	.	E	493;634	.	ENSP00000313704:G634E	G	-	2	0	TPRN	139206521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.516000	0.06282	0.447000	0.26695	0.462000	0.41574	GGG		0.662	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		53	57	0	0	0	1	0	53	57				
C7orf50	84310	broad.mit.edu	37	7	1167007	1167007	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:1167007C>A	ENST00000397098.3	-	2	941	c.15G>T	c.(13-15)aaG>aaT	p.K5N	C7orf50_ENST00000397100.2_Missense_Mutation_p.K5N|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5N			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	5							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GAACTTTTCTCTTCTGTTTTG	0.443																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(13-15)aaG>aaT		chromosome 7 open reading frame 50							61.0	53.0	56.0					7																	1167007		2203	4300	6503	SO:0001583	missense	84310						protein binding	g.chr7:1167007C>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.15G>T	7.37:g.1167007C>A	ENSP00000380286:p.Lys5Asn					C7orf50_ENST00000397100.2_Missense_Mutation_p.K5N|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5N|C7orf50_ENST00000488073.1_5'UTR	p.K5N			Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	2	941	-		Ovarian(82;0.0779)	5						Missense_Mutation	SNP	ENST00000397098.3	37	c.15G>T	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165725	0.38217	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.68	1.82	0.25136	.	0.069851	0.53938	D	0.000047	T	0.15089	0.0364	L	0.27053	0.805	0.27268	N	0.958433	P	0.43094	0.799	B	0.33750	0.169	T	0.13926	-1.0491	9	0.56958	D	0.05	-16.775	5.0652	0.14578	0.0:0.668:0.2143:0.1177	.	5	Q9BRJ6	CG050_HUMAN	N	5	.	ENSP00000350011:K5N	K	-	3	2	C7orf50	1133533	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	0.777000	0.26718	0.522000	0.28464	0.655000	0.94253	AAG		0.443	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		4	3	1	0	0.150653	1	0.152048	4	3				
ROBO2	6092	broad.mit.edu	37	3	77595594	77595594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:77595594G>A	ENST00000461745.1	+	7	1940	c.1040G>A	c.(1039-1041)tGg>tAg	p.W347*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.W363*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.W347*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	347	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGTTTTTTGGCAGAAAGAA	0.478																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1039-1041)tGg>tAg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							188.0	185.0	186.0					3																	77595594		1888	4131	6019	SO:0001587	stop_gained	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77595594G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1040G>A	3.37:g.77595594G>A	ENSP00000417164:p.Trp347*					ROBO2_ENST00000332191.8_Nonsense_Mutation_p.W347*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.W363*	p.W347*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	7	1940	+			347			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.1040G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	37	6.100213	0.97281	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	5.76	5.76	0.90799	.	0.000000	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9699	0.97282	0.0:0.0:1.0:0.0	.	.	.	.	X	363;363;367;347;347;68	.	ENSP00000327536:W347X	W	+	2	0	ROBO2	77678284	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	9.869000	0.99810	2.730000	0.93505	0.591000	0.81541	TGG		0.478	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		27	179	0	0	0	1	0	27	179				
PIK3CA	5290	broad.mit.edu	37	3	178916957	178916957	+	Missense_Mutation	SNP	G	G	T	rs200018596		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:178916957G>T	ENST00000263967.3	+	2	501	c.344G>T	c.(343-345)cGa>cTa	p.R115L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	115					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R115L(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCCTCAATCGAGAAATTGGT	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		3	Substitution - Missense(3)	p.R115L(3)	endometrium(2)|upper_aerodigestive_tract(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(343-345)cGa>cTa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							71.0	67.0	69.0					3																	178916957		1815	4070	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916957G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.344G>T	3.37:g.178916957G>T	ENSP00000263967:p.Arg115Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R115L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	501	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		115					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.344G>T	CCDS43171.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.05	3.536439	0.65085	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72282	0.9;-0.64	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.34521	1.04	0.80722	D	1	P	0.42785	0.79	B	0.34180	0.177	T	0.60021	-0.7344	9	.	.	.	-14.1086	19.4271	0.94746	0.0:0.0:1.0:0.0	.	115	P42336	PK3CA_HUMAN	L	115	ENSP00000263967:R115L;ENSP00000417479:R115L	.	R	+	2	0	PIK3CA	180399651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.289000	0.96061	2.584000	0.87258	0.555000	0.69702	CGA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	36	1	0	1.1804e-14	1	1.36876e-14	26	36				
NPIPB5	100132247	broad.mit.edu	37	16	22546256	22546256	+	Missense_Mutation	SNP	A	A	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:22546256A>T	ENST00000517539.1	+	8	2027	c.1952A>T	c.(1951-1953)cAc>cTc	p.H651L	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_Missense_Mutation_p.H651L			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	651	Pro-rich.					integral component of membrane (GO:0016021)											ATATCAAGACACCTGCCGAGC	0.577																																						ENST00000424340.1																			0											c.(1951-1953)cAc>cTc		nuclear pore complex interacting protein family, member B5							2.0	4.0	3.0					16																	22546256		560	1308	1868	SO:0001583	missense	100132247							g.chr16:22546256A>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1952A>T	16.37:g.22546256A>T	ENSP00000430633:p.His651Leu					NPIPB5_ENST00000517539.1_Missense_Mutation_p.H651L|NPIPB5_ENST00000415654.1_3'UTR	p.H651L	NM_001135865.1	NP_001129337.1					7	2231	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1952A>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	7.949	0.744493	0.15710	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.20463	2.07;2.07	.	.	.	.	.	.	.	.	T	0.10208	0.0250	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.38351	-0.9665	4	0.08837	T	0.75	.	.	.	.	.	644;651	F5GWX0;A8MRT5	.;K220L_HUMAN	L	651;644;408;529;651	ENSP00000440703:H651L;ENSP00000430633:H651L	ENSP00000441680:H644L	H	+	2	0	RP11-368J21.2	22453757	0.056000	0.20664	.	.	.	.	0.072000	0.14617	.	.	.	.	CAC		0.577	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		6	162	0	0	0	1	0	6	162				
PRODH2	58510	broad.mit.edu	37	19	36297437	36297437	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:36297437C>A	ENST00000301175.3	-	8	1141	c.1124G>T	c.(1123-1125)gGa>gTa	p.G375V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	375					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCTTCACTCCGAAGGCCAG	0.622																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1123-1125)gGa>gTa		proline dehydrogenase (oxidase) 2							117.0	106.0	110.0					19																	36297437		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36297437C>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1124G>T	19.37:g.36297437C>A	ENSP00000301175:p.Gly375Val						p.G375V	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1141	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		375						Missense_Mutation	SNP	ENST00000301175.3	37	c.1124G>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137616	0.56936	.	.	ENSG00000250799	ENST00000301175	T	0.36157	1.27	4.96	4.96	0.65561	Proline dehydrogenase (1);	.	.	.	.	T	0.70360	0.3215	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79553	-0.1756	9	0.87932	D	0	.	15.7333	0.77822	0.0:1.0:0.0:0.0	.	375	Q9UF12	PROD2_HUMAN	V	375	ENSP00000301175:G375V	ENSP00000301175:G375V	G	-	2	0	PRODH2	40989277	0.997000	0.39634	0.833000	0.33012	0.025000	0.11179	4.563000	0.60823	2.567000	0.86603	0.591000	0.81541	GGA		0.622	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		81	223	1	0	7.81431e-29	1	9.25826e-29	81	223				
LINC01410	103352539	broad.mit.edu	37	9	66457330	66457330	+	lincRNA	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:66457330G>T	ENST00000424345.1	+	0	42				RNA5SP283_ENST00000365604.1_RNA																							cagcgacagagccttggagag	0.632																																						ENST00000424345.1																			0																																																			0							g.chr9:66457330G>T																													9.37:g.66457330G>T														0	42	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.632	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	13	1	0	1	1	1	4	13				
PDE4DIP	9659	broad.mit.edu	37	1	145014238	145014238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:145014238delC	ENST00000493130.2	-	4	465	c.304delG	c.(304-306)gaafs	p.E102fs	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCCTTGCTTCCCCCACCAGC	0.443			T	PDGFRB	MPD																																	ENST00000493130.2				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(304-306)aafs		phosphodiesterase 4D interacting protein																																				SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145014238delC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000493130.2:c.304delG	1.37:g.145014238delC	ENSP00000432251:p.Glu102fs					PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron	p.E102fs			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	465	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000493130.2	37	c.304delG																																																																																					0.443	PDE4DIP-027	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000099618.2	NM_022359		2	4						2	4	---	---	---	---
MIR217HG	104355290	broad.mit.edu	37	2	56259444	56259444	+	lincRNA	DEL	T	T	-			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:56259444delT	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA																							ggctgccatattatttgcatt	0.458																																						ENST00000606639.1																			0																																																			0							g.chr2:56259444delT																													2.37:g.56259444delT						AC011306.2_ENST00000446139.1_lincRNA								0	82	+									RNA	DEL	ENST00000606639.1	37																																																																																						0.458	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1			2	4						2	4	---	---	---	---
AC093639.1	0	broad.mit.edu	37	2	184781026	184781026	+	lincRNA	DEL	C	C	-	rs113400092		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:184781026delC	ENST00000441026.1	+	0	103																											aggaggcctgcctgcctctgt	0.527																																						ENST00000441026.1																			0																																																			0							g.chr2:184781026delC																													2.37:g.184781026delC														0	103	+									RNA	DEL	ENST00000441026.1	37																																																																																						0.527	AC093639.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000332356.1			3	4						3	4	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195403822	195403822	+	lincRNA	DEL	A	A	-	rs200297961		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:195403822delA	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		attccatctcaaaaaaaaaaa	0.483																																						ENST00000445430.1																			0																																																			0							g.chr3:195403822delA	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195403822delA														0	1454	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.483	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			2	4						2	4	---	---	---	---
RP11-153M7.3	0	broad.mit.edu	37	4	154587193	154587193	+	RNA	DEL	C	C	-			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr4:154587193delC	ENST00000602666.1	+	0	355																											ttggcagcttccacatggtgt	0.517																																						ENST00000602666.1																			0																																																			0							g.chr4:154587193delC																													4.37:g.154587193delC														0	355	+									RNA	DEL	ENST00000602666.1	37																																																																																						0.517	RP11-153M7.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468051.1			2	4						2	4	---	---	---	---
CTD-2281E23.3	0	broad.mit.edu	37	8	1197216	1197217	+	lincRNA	INS	-	-	G	rs143735419		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:1197216_1197217insG	ENST00000517950.1	-	0	278																											GAGATCAGTGTGGAGTGATGGT	0.584																																						ENST00000517950.1																			0																																																			0							g.chr8:1197216_1197217insG																													8.37:g.1197218_1197218dupG														0	278	-									RNA	INS	ENST00000517950.1	37																																																																																						0.584	CTD-2281E23.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374676.1			2	4						2	4	---	---	---	---
RP11-531A24.5	0	broad.mit.edu	37	8	73965434	73965435	+	RNA	INS	-	-	GTTTTGTTTTGTTTT	rs373359905|rs141422515|rs7826991		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:73965434_73965435insGTTTTGTTTTGTTTT	ENST00000517664.1	+	0	1022_1023																											tgttttttttggttttgttttg	0.436																																						ENST00000517664.1																			0																																																			0							g.chr8:73965434_73965435insGTTTTGTTTTGTTTT																													8.37:g.73965434_73965435insGTTTTGTTTTGTTTT														0	1022_1023	+									RNA	INS	ENST00000517664.1	37																																																																																						0.436	RP11-531A24.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000379313.1			2	4						2	4	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135946987	135946988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:135946987_135946988insC	ENST00000372080.4	+	11	2123_2124	c.2107_2108insC	c.(2107-2109)gccfs	p.A703fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.A634fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	700	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGTG	0.822																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2107-2109)cccfs		carboxyl ester lipase																																				SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946987_135946988insC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2115dupC	9.37:g.135946995_135946995dupC	ENSP00000361151:p.Ala703fs					CEL_ENST00000351304.7_Frame_Shift_Ins_p.P634fs	p.P703fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2123_2124	+			700			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	ENST00000372080.4	37	c.2107_2108insC	CCDS43896.1																																																																																				0.822	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			3	4						3	4	---	---	---	---
RP11-282I1.1	0	broad.mit.edu	37	10	125119044	125119044	+	lincRNA	DEL	A	A	-			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr10:125119044delA	ENST00000448347.1	+	0	95																											cgtctctaccaaaaatacaaa	0.522																																						ENST00000448347.1																			0																																																			0							g.chr10:125119044delA																													10.37:g.125119044delA														0	95	+									RNA	DEL	ENST00000448347.1	37																																																																																						0.522	RP11-282I1.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000050847.1			2	4						2	4	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91190540	91190541	+	IGR	INS	-	-	TTA			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr15:91190540_91190541insTTA	ENST00000420329.2	+	0	5209				RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3						energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ccacaatcctcctccacacccc	0.629			T	MAML2	salivary gland mucoepidermoid																																	ENST00000559531.1				Dom	yes		15	15q26.1	64784		CREB regulated transcription coactivator 3			E					0																																																	SO:0001628	intergenic_variant	0							g.chr15:91190540_91190541insTTA		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7			15.37:g.91190540_91190541insTTA														0	294	-								Q6DK61|Q6DK62|Q8NF38|Q9H6U2	RNA	INS	ENST00000420329.2	37		CCDS45348.1																																																																																				0.629	CRTC3-002	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417715.1	NM_022769		2	4						2	4	---	---	---	---
RP11-19N8.2	0	broad.mit.edu	37	16	33037352	33037352	+	RNA	DEL	T	T	-	rs141311558|rs201437788	byFrequency	TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:33037352delT	ENST00000567619.1	-	0	499																											TAAATGACAATGAATTTTTTT	0.388																																						ENST00000567619.1																			0																																																			0							g.chr16:33037352delT																													16.37:g.33037352delT														0	499	-									RNA	DEL	ENST00000567619.1	37																																																																																						0.388	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			2	4						2	4	---	---	---	---
AC061992.2	0	broad.mit.edu	37	17	76332835	76332835	+	lincRNA	DEL	T	T	-	rs368507200		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:76332835delT	ENST00000586321.1	+	0	60																											AAATAATAACttttttttttt	0.453																																						ENST00000586321.1																			0																																																			0							g.chr17:76332835delT																													17.37:g.76332835delT														0	60	+									RNA	DEL	ENST00000586321.1	37																																																																																						0.453	AC061992.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000255896.1			2	4						2	4	---	---	---	---
RP11-78F17.1	0	broad.mit.edu	37	18	983013	983014	+	lincRNA	INS	-	-	C	rs72094579		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr18:983013_983014insC	ENST00000580781.1	+	0	306																											aaccatggccgccccccaccca	0.525																																						ENST00000580781.1																			0																																																			0							g.chr18:983013_983014insC																													18.37:g.983019_983019dupC														0	306	+									RNA	INS	ENST00000580781.1	37																																																																																						0.525	RP11-78F17.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441526.2			5	4						5	4	---	---	---	---
NTN5	126147	broad.mit.edu	37	19	49177697	49177697	+	5'Flank	DEL	G	G	-	rs147031859|rs398034908|rs34427684	byFrequency	TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:49177697delG	ENST00000270235.4	-	0	0				SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTGATGCGGAGGGGCATTTGT	0.612													GGGG|GGGG|GGG|deletion	1977	0.394768	0.2443	0.4251	5008	,	,		14546	0.2302		0.6103	False		,,,				2504	0.5245					ENST00000430145.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr19:49177697delG		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8			19.37:g.49177697delG	Exception_encountered							NR_004401.2						0	368	+								Q8N4X9|Q8WU63	RNA	DEL	ENST00000270235.4	37		CCDS33068.1																																																																																				0.612	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		3	3						3	3	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29589297	29589297	+	RNA	DEL	C	C	-	rs73620372|rs77299581		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:29589297delC	ENST00000432067.1	-	0	152																											cttagcacttcttttgctgca	0.299																																						ENST00000432067.1																			0																																																			0							g.chr20:29589297delC																													20.37:g.29589297delC														0	152	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.299	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			4	6						4	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11066244	11066249	+	RNA	DEL	CAAAAA	CAAAAA	-	rs202052085|rs201145462|rs57259061		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr21:11066244_11066249delCAAAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactccatctcaaaaacaaaaacaaa	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11066244_11066249delCAAAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11066250_11066255delCAAAAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
DANT2	642776	broad.mit.edu	37	X	115052547	115052547	+	lincRNA	DEL	C	C	-	rs377039718|rs60378274|rs200088163		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:115052547delC	ENST00000430756.2	-	0	200																											gctctcccttcccccagaaca	0.502													CCCC|CCCCC|CCCC|insertion	2239	0.593113	0.4342	0.4769	3775	,	,		15266	0.4782		0.3668	False		,,,				2504	0.4939					ENST00000430756.1																			0																																																			0							g.chrX:115052547delC																													X.37:g.115052547delC														0	200	-									RNA	DEL	ENST00000430756.2	37																																																																																						0.502	RP11-761E20.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057981.1			3	4						3	4	---	---	---	---
