#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
RNF207	388591	broad.mit.edu	37	1	6271141	6271141	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:6271141C>T	ENST00000377939.4	+	12	1199	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	RNF207_ENST00000377948.2_Intron	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	358						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTGCTGGGGCCACGTCGGGT	0.667																																						uc001amg.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(1072-1074)Cca>Tca		Homo sapiens ring finger protein 207 (RNF207), mRNA.							14.0	18.0	17.0					1																	6271141		2090	4209	6299	SO:0001583	missense	388591					intracellular	zinc ion binding	g.chr1:6271141C>T	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1072C>T	1.37:g.6271141C>T	ENSP00000367173:p.Pro358Ser					RNF207_uc010nzp.1_Non-coding_Transcript	p.P358S	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	11	1246	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	358					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	c.1072C>T	CCDS59.2	.	.	.	.	.	.	.	.	.	.	C	6.842	0.524680	0.13066	.	.	ENSG00000158286	ENST00000377939	T	0.17691	2.26	4.26	3.27	0.37495	.	0.111590	0.33364	U	0.004998	T	0.17195	0.0413	L	0.60455	1.87	0.80722	D	1	B	0.31680	0.335	B	0.25140	0.058	T	0.08513	-1.0718	10	0.33141	T	0.24	-19.1239	14.7461	0.69490	0.0:0.8406:0.1593:0.0	.	358	Q6ZRF8	RN207_HUMAN	S	358	ENSP00000367173:P358S	ENSP00000367173:P358S	P	+	1	0	RNF207	6193728	0.002000	0.14202	0.966000	0.40874	0.216000	0.24613	1.447000	0.35101	1.956000	0.56807	0.456000	0.33151	CCA		0.667	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396	
CAMTA1	23261	broad.mit.edu	37	1	7723936	7723936	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723936C>T	ENST00000303635.7	+	9	1536	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	CAMTA1_ENST00000439411.2_Silent_p.A443A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAAGTTCGCCTTTCCCACCA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1327-1329)gcC>gcT		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							80.0	79.0	79.0					1																	7723936		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723936C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1329C>T	1.37:g.7723936C>T							p.A443A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	8	1536	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	443					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1329C>T	CCDS30576.1																																																																																				0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
CAMTA1	23261	broad.mit.edu	37	1	7723997	7723997	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723997C>T	ENST00000303635.7	+	9	1597	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L	CAMTA1_ENST00000439411.2_Silent_p.L464L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCGAAGAGCTGGTCCTCTC	0.597			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1390-1392)Ctg>Ttg		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							74.0	81.0	79.0					1																	7723997		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723997C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1390C>T	1.37:g.7723997C>T							p.L464L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	8	1597	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	464					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1390C>T	CCDS30576.1																																																																																				0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						uc001cck.3																			1	Substitution - Missense(1)	p.P143S(2)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Tcc		Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.							92.0	93.0	92.0					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>T	1.37:g.38463709G>A	ENSP00000362107:p.Pro143Ser					FHL3_uc001ccm.3_Missense_Mutation_p.P35S|FHL3_uc009vvl.2_Missense_Mutation_p.P143S	p.P143S	NM_004468	NP_004459	Q13643	FHL3_HUMAN			3	606	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494216	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.86497	-2.13	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	N	0.20401	0.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89068	0.3467	10	0.39692	T	0.17	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	S	143	ENSP00000362107:P143S	ENSP00000362107:P143S	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468	
PSMA5	5686	broad.mit.edu	37	1	109964523	109964523	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:109964523C>T	ENST00000271308.4	-	2	75	c.55G>A	c.(55-57)Gga>Aga	p.G19R	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Intron	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AATAATCTTCCTTCGGGAGAA	0.348																																						uc001dxn.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(55-57)Gga>Aga		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.							61.0	57.0	59.0					1																	109964523		2203	4299	6502	SO:0001583	missense	5686				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr1:109964523C>T	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.55G>A	1.37:g.109964523C>T	ENSP00000271308:p.Gly19Arg					PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR	p.G19R	NM_002790	NP_001186703	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	1	173	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	19					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	ENST00000271308.4	37	c.55G>A	CCDS799.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968019	0.92855	.	.	ENSG00000143106	ENST00000271308	D	0.83992	-1.79	5.49	5.49	0.81192	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97720	1.0196	9	.	.	.	5.2899	16.2977	0.82784	0.0:1.0:0.0:0.0	.	19	P28066	PSA5_HUMAN	R	19	ENSP00000271308:G19R	.	G	-	1	0	PSMA5	109766046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.381000	0.79718	2.578000	0.87016	0.655000	0.94253	GGA		0.348	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790	
SPAG17	200162	broad.mit.edu	37	1	118640437	118640437	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:118640437T>C	ENST00000336338.5	-	7	932	c.867A>G	c.(865-867)atA>atG	p.I289M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	289						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAAGCTCTTTTATGGCATTTT	0.333																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(865-867)atA>atG		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							124.0	118.0	120.0					1																	118640437		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640437T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.867A>G	1.37:g.118640437T>C	ENSP00000337804:p.Ile289Met						p.I289M	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	6	935	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	289					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.867A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014301	0.35511	.	.	ENSG00000155761	ENST00000336338	T	0.50001	0.76	5.2	-10.4	0.00318	.	0.761818	0.12535	N	0.460479	T	0.15609	0.0376	M	0.68317	2.08	0.09310	N	0.999999	B	0.18166	0.026	B	0.21917	0.037	T	0.19976	-1.0289	10	0.52906	T	0.07	.	2.6161	0.04903	0.2256:0.1546:0.4298:0.19	.	289	Q6Q759	SPG17_HUMAN	M	289	ENSP00000337804:I289M	ENSP00000337804:I289M	I	-	3	3	SPAG17	118441960	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	-0.833000	0.04396	-1.352000	0.02194	0.528000	0.53228	ATA		0.333	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G	rs199988926	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G						NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	p.Q1290Q	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	29	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
LOC728989	728989	broad.mit.edu	37	1	146494537	146494537	+	IGR	SNP	C	C	T	rs587682840	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:146494537C>T								RP4-704D21.2 (19360 upstream) : RNVU1-8 (56757 downstream)																							TTGGCAGGGCCGCTCTCCAGA	0.567													.|||	9	0.00179712	0.0008	0.0	5008	,	,		22745	0.005		0.0	False		,,,				2504	0.0031					uc001epd.2																			0											c.(460-462)gcG>gcA		Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																																				SO:0001628	intergenic_variant	728989							g.chr1:146494537C>T																													1.37:g.146494537C>T							p.A154A							3	536	-									Silent	SNP		37	c.462G>A																																																																																				0	0.567								
FCRLA	84824	broad.mit.edu	37	1	161682911	161682911	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:161682911C>T	ENST00000236938.6	+	5	1114	c.872C>T	c.(871-873)cCa>cTa	p.P291L	FCRLA_ENST00000294796.4_Missense_Mutation_p.P140L|FCRLA_ENST00000540521.1_Missense_Mutation_p.P157L|FCRLA_ENST00000309691.6_Missense_Mutation_p.P185L|FCRLA_ENST00000367953.3_Missense_Mutation_p.P280L|FCRLA_ENST00000367949.2_Missense_Mutation_p.P107L|FCRLA_ENST00000350710.3_Missense_Mutation_p.P56L|FCRLA_ENST00000540926.1_Missense_Mutation_p.P280L|FCRLA_ENST00000349527.4_Missense_Mutation_p.P179L|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Missense_Mutation_p.P67L|FCRLA_ENST00000367957.2_Missense_Mutation_p.P151L|FCRLA_ENST00000367959.2_Missense_Mutation_p.P297L|FCRLA_ENST00000546024.1_Missense_Mutation_p.P202L	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	274	Pro-rich.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACATTGAATCCAGCTCCTCAG	0.582																																						uc001gbe.3																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(889-891)cCa>cTa		Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.							95.0	100.0	98.0					1																	161682911		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161682911C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.872C>T	1.37:g.161682911C>T	ENSP00000236938:p.Pro291Leu					FCRLA_uc001gbg.3_Missense_Mutation_p.P151L|FCRLA_uc009wup.3_Missense_Mutation_p.P107L|FCRLA_uc009wuq.3_Missense_Mutation_p.P56L|FCRLA_uc001gbd.3_Missense_Mutation_p.P291L|FCRLA_uc001gbf.3_Missense_Mutation_p.P202L|FCRLA_uc009wuo.3_Missense_Mutation_p.P157L	p.P297L	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	1132	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		274			Pro-rich.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.890C>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104588	0.77096	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	0.66;0.66;0.66;0.66;0.66;-0.19;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.23	5.23	0.72850	.	0.261197	0.27600	N	0.018646	T	0.59432	0.2193	L	0.48642	1.525	0.22435	N	0.999106	D;D;D;D;D;D;B	0.76494	0.979;0.999;0.996;0.968;0.998;0.986;0.295	P;D;P;P;D;P;B	0.71184	0.747;0.972;0.865;0.482;0.943;0.722;0.132	T	0.51490	-0.8699	10	0.17369	T	0.5	.	14.1735	0.65525	0.0:1.0:0.0:0.0	.	56;107;157;151;202;297;291	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	L	291;297;202;157;107;56;280;151;179;185;140;280;67	ENSP00000236938:P291L;ENSP00000356936:P297L;ENSP00000439838:P202L;ENSP00000442870:P157L;ENSP00000356926:P107L;ENSP00000344808:P56L;ENSP00000446380:P280L;ENSP00000356934:P151L;ENSP00000294798:P179L;ENSP00000309596:P185L;ENSP00000294796:P140L;ENSP00000356930:P280L;ENSP00000356927:P67L	ENSP00000236938:P291L	P	+	2	0	FCRLA	159949535	0.133000	0.22466	0.574000	0.28523	0.905000	0.53344	1.881000	0.39638	2.716000	0.92895	0.655000	0.94253	CCA		0.582	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
CACNA1S	779	broad.mit.edu	37	1	201012596	201012596	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:201012596C>T	ENST00000362061.3	-	40	5087	c.4861G>A	c.(4861-4863)Gtc>Atc	p.V1621I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1602I|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1621					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)	TTGGCCATGACGGGGGGCAGG	0.567											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gvv.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.(4861-4863)Gtc>Atc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						79.0	76.0	77.0					1																	201012596		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.chr1:201012596C>T	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.4861G>A	1.37:g.201012596C>T	ENSP00000355192:p.Val1621Ile		OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2118		p.V1621I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			39	5088	-			1621					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4861G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	6.672	0.492460	0.12702	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95853	-3.83;-3.76	5.15	0.583	0.17417	.	1.744740	0.03518	N	0.220548	D	0.89012	0.6594	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.80553	-0.1331	10	0.44086	T	0.13	.	7.6623	0.28410	0.0:0.4458:0.378:0.1762	.	1621	Q13698	CAC1S_HUMAN	I	1621;1602	ENSP00000355192:V1621I;ENSP00000356307:V1602I	ENSP00000355192:V1621I	V	-	1	0	CACNA1S	199279219	0.001000	0.12720	0.006000	0.13384	0.324000	0.28378	0.395000	0.20850	0.564000	0.29238	0.544000	0.68410	GTC		0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
ABCG4	64137	broad.mit.edu	37	11	119031668	119031668	+	Missense_Mutation	SNP	C	C	T	rs571213849		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr11:119031668C>T	ENST00000449422.2	+	15	1981	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	ABCG4_ENST00000531739.1_Missense_Mutation_p.P598L|ABCG4_ENST00000307417.3_Missense_Mutation_p.P598L	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	598	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAACGCTGCCCGTTCCGGGAG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20229	0.001		0.0	False		,,,				2504	0.0					uc001pvs.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1792-1794)cCg>cTg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.							103.0	91.0	95.0					11																	119031668		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031668C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1793C>T	11.37:g.119031668C>T	ENSP00000406874:p.Pro598Leu					ABCG4_uc009zar.3_Missense_Mutation_p.P598L	p.P598L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	14	2129	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	598			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1793C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947541	0.34377	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.41065	1.01;1.01;1.01	5.55	3.6	0.41247	.	0.220206	0.47093	D	0.000254	T	0.32255	0.0823	L	0.31752	0.955	0.49582	D	0.999808	B	0.06786	0.001	B	0.04013	0.001	T	0.04767	-1.0928	10	0.39692	T	0.17	-9.5824	14.4413	0.67321	0.269:0.731:0.0:0.0	.	598	Q9H172	ABCG4_HUMAN	L	598	ENSP00000304111:P598L;ENSP00000406874:P598L;ENSP00000434318:P598L	ENSP00000304111:P598L	P	+	2	0	ABCG4	118536878	0.977000	0.34250	0.305000	0.25099	0.633000	0.38033	2.551000	0.45820	0.643000	0.30638	0.655000	0.94253	CCG		0.567	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	
TSPAN9	10867	broad.mit.edu	37	12	3387673	3387673	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:3387673G>A	ENST00000011898.5	+	4	311	c.150G>A	c.(148-150)tcG>tcA	p.S50S	TSPAN9_ENST00000407263.1_Silent_p.S50S|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.S50S	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	50						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCTTCCCTTCGTTGTCTGCAG	0.597																																						uc001qlp.3																			0		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(148-150)tcG>tcA		Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.							176.0	155.0	162.0					12																	3387673		2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3387673G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.150G>A	12.37:g.3387673G>A						TSPAN9_uc021qtd.1_Silent_p.S50S	p.S50S	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		3	333	+			50					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.150G>A	CCDS8520.1																																																																																				0.597	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
OR9K2	441639	broad.mit.edu	37	12	55524385	55524385	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:55524385G>A	ENST00000305377.5	+	1	921	c.833G>A	c.(832-834)gGt>gAt	p.G278D		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GTGCTGTATGGTGCTGTCTTT	0.443																																						uc010spe.2																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(832-834)gGt>gAt		Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.							201.0	180.0	187.0					12																	55524385		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524385G>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.833G>A	12.37:g.55524385G>A	ENSP00000307598:p.Gly278Asp						p.G278D	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			0	833	+			278					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.833G>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955276	0.73902	.	.	ENSG00000170605	ENST00000305377	T	0.39229	1.09	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000060	T	0.79828	0.4513	H	0.98918	4.37	0.40147	D	0.976907	D	0.89917	1.0	D	0.85130	0.997	D	0.88492	0.3076	10	0.87932	D	0	-12.3305	18.4253	0.90607	0.0:0.0:1.0:0.0	.	278	Q8NGE7	OR9K2_HUMAN	D	278	ENSP00000307598:G278D	ENSP00000307598:G278D	G	+	2	0	OR9K2	53810652	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	0.814000	0.27239	2.753000	0.94483	0.650000	0.86243	GGT		0.443	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1		
APOF	319	broad.mit.edu	37	12	56755194	56755194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:56755194C>T	ENST00000398189.3	-	2	873	c.796G>A	c.(796-798)Gca>Aca	p.A266T	STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.A248T|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	266					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GAGATGTTTGCGTCTTTCTGA	0.493																																						uc001sle.1																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(796-798)Gca>Aca		Homo sapiens apolipoprotein F (APOF), mRNA.							107.0	107.0	107.0					12																	56755194		1973	4154	6127	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755194C>T	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.796G>A	12.37:g.56755194C>T	ENSP00000381250:p.Ala266Thr						p.A266T	NM_001638	NP_001629	Q13790	APOF_HUMAN			1	850	-			266					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.796G>A	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976432	0.34848	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.48201	0.82;0.83	5.21	1.17	0.20885	.	0.441905	0.16863	N	0.196452	T	0.29556	0.0737	L	0.40543	1.245	0.09310	N	1	B	0.27971	0.196	B	0.14578	0.011	T	0.15954	-1.0419	10	0.45353	T	0.12	-1.6181	2.1926	0.03903	0.156:0.5103:0.1514:0.1822	.	266	Q13790	APOF_HUMAN	T	266;248	ENSP00000381250:A266T;ENSP00000440997:A248T	ENSP00000381250:A266T	A	-	1	0	APOF	55041461	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.467000	0.22035	0.120000	0.18254	0.655000	0.94253	GCA		0.493	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1		
FOXN4	121643	broad.mit.edu	37	12	109719238	109719238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:109719238G>A	ENST00000299162.5	-	9	1372	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P243L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	423					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CATGATGCTCGGGTCGAGGGC	0.627																																						uc001toe.4																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1267-1269)cCg>cTg		Homo sapiens forkhead box N4 (FOXN4), mRNA.							75.0	73.0	74.0					12																	109719238		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719238G>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1268C>T	12.37:g.109719238G>A	ENSP00000299162:p.Pro423Leu					FOXN4_uc009zvg.3_Missense_Mutation_p.P220L|FOXN4_uc001tof.4_Missense_Mutation_p.P243L	p.P423L	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	1373	-			423					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1268C>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399860	0.83120	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.97642	-4.47;-4.39	5.3	4.34	0.51931	.	0.280432	0.35179	N	0.003395	D	0.98207	0.9407	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98438	1.0585	10	0.87932	D	0	-24.8657	14.1654	0.65473	0.0:0.0:0.8499:0.1501	.	423;423	A6H901;Q96NZ1	.;FOXN4_HUMAN	L	243;423	ENSP00000347354:P243L;ENSP00000299162:P423L	ENSP00000299162:P423L	P	-	2	0	FOXN4	108203621	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.424000	0.80242	2.644000	0.89710	0.561000	0.74099	CCG		0.627	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735	
SERPINA12	145264	broad.mit.edu	37	14	94953819	94953819	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr14:94953819C>T	ENST00000341228.2	-	6	1861	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A356T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	356					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTCAGCTCAGCCTTGTGCACA	0.597																																						uc001ydj.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1066-1068)Gct>Act		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.							77.0	62.0	67.0					14																	94953819		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94953819C>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1066G>A	14.37:g.94953819C>T	ENSP00000342109:p.Ala356Thr						p.A356T	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	5	1862	-			356						Missense_Mutation	SNP	ENST00000341228.2	37	c.1066G>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055106	0.93793	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.86562	-2.14;-2.14	5.6	5.6	0.85130	Serpin domain (3);	0.000000	0.53938	D	0.000043	D	0.93772	0.8009	M	0.82193	2.58	0.48452	D	0.999658	D	0.65815	0.995	D	0.70935	0.971	D	0.94341	0.7570	10	0.87932	D	0	.	17.368	0.87368	0.0:1.0:0.0:0.0	.	356	Q8IW75	SPA12_HUMAN	T	356	ENSP00000451738:A356T;ENSP00000342109:A356T	ENSP00000342109:A356T	A	-	1	0	SERPINA12	94023572	1.000000	0.71417	0.995000	0.50966	0.869000	0.49853	5.391000	0.66266	2.625000	0.88918	0.561000	0.74099	GCT		0.597	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
PEPD	5184	broad.mit.edu	37	19	33892682	33892682	+	Silent	SNP	G	G	A	rs199621901		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:33892682G>A	ENST00000244137.7	-	12	945	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PEPD_ENST00000436370.3_Silent_p.A240A|PEPD_ENST00000397032.4_Silent_p.A263A	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	304					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCATAGACGGCCTTCTGGT	0.627																																						uc002nur.4																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(910-912)gcC>gcT		Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.		G	,,	0,4240		0,0,2120	56.0	65.0	62.0		912,789,720	2.2	1.0	19		62	1,8469		0,1,4234	no	coding-synonymous,coding-synonymous,coding-synonymous	PEPD	NM_000285.3,NM_001166056.1,NM_001166057.1	,,	0,1,6354	AA,AG,GG		0.0118,0.0,0.0079	,,	304/494,263/453,240/430	33892682	1,12709	2120	4235	6355	SO:0001819	synonymous_variant	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33892682G>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.912C>T	19.37:g.33892682G>A						PEPD_uc010xrs.2_Silent_p.A240A|PEPD_uc010xrr.2_Silent_p.A263A	p.A304A	NM_000285	NP_000276	P12955	PEPD_HUMAN			11	1045	-	Esophageal squamous(110;0.137)		304					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	c.912C>T	CCDS42544.1																																																																																				0.627	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285	
NLRP12	91662	broad.mit.edu	37	19	54313742	54313742	+	Missense_Mutation	SNP	C	C	T	rs199512582		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:54313742C>T	ENST00000324134.6	-	3	1339	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	NLRP12_ENST00000535162.1_Missense_Mutation_p.V391M|NLRP12_ENST00000391772.1_Missense_Mutation_p.V391M|NLRP12_ENST00000351894.4_Missense_Mutation_p.V391M|NLRP12_ENST00000391773.1_Missense_Mutation_p.V391M|NLRP12_ENST00000345770.5_Missense_Mutation_p.V391M|NLRP12_ENST00000391775.3_Missense_Mutation_p.V391M|NLRP12_ENST00000354278.3_Missense_Mutation_p.V391M	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	391	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTCCCTCACGTAATTGAAG	0.562																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1171-1173)Gtg>Atg		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							181.0	177.0	179.0					19																	54313742		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313742C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1171G>A	19.37:g.54313742C>T	ENSP00000319377:p.Val391Met					NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.V391M|NLRP12_uc002qci.4_Missense_Mutation_p.V391M|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.V391M	p.V391M	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	1391	-	Ovarian(34;0.19)		391			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1171G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643069	0.29246	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.64	-2.31	0.06765	NACHT nucleoside triphosphatase (1);	0.803834	0.10442	N	0.674179	T	0.69522	0.3120	L	0.49571	1.57	0.39920	D	0.974145	P;P;P;P	0.43938	0.822;0.714;0.822;0.76	B;B;B;B	0.27076	0.074;0.051;0.074;0.076	T	0.62383	-0.6866	10	0.31617	T	0.26	.	2.2377	0.04012	0.1396:0.4134:0.2722:0.1748	.	391;391;391;391	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	M	391	ENSP00000319377:V391M;ENSP00000438030:V391M;ENSP00000340473:V391M;ENSP00000346231:V391M;ENSP00000375655:V391M;ENSP00000375653:V391M;ENSP00000375652:V391M	ENSP00000319377:V391M	V	-	1	0	NLRP12	59005554	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-0.138000	0.10374	-0.478000	0.06823	0.485000	0.47835	GTG		0.562	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
YIPF4	84272	broad.mit.edu	37	2	32530586	32530586	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:32530586G>A	ENST00000238831.4	+	6	872	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	209						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCTGCCTACAGTGCTGCTTCA	0.323																																						uc002rok.3																			0				kidney(2)|lung(3)|prostate(3)|skin(1)	9						c.(625-627)aGt>aAt		Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.							100.0	102.0	101.0					2																	32530586		2203	4300	6503	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32530586G>A	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.626G>A	2.37:g.32530586G>A	ENSP00000238831:p.Ser209Asn						p.S209N	NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN			5	893	+	Acute lymphoblastic leukemia(172;0.155)		209						Missense_Mutation	SNP	ENST00000238831.4	37	c.626G>A	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622004	0.87460	.	.	ENSG00000119820	ENST00000238831	T	0.43688	0.94	5.86	5.86	0.93980	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.83603	2.65	0.80722	D	1	D	0.59357	0.985	D	0.69824	0.966	T	0.71925	-0.4445	10	0.87932	D	0	.	18.3664	0.90392	0.0:0.0:1.0:0.0	.	209	Q9BSR8	YIPF4_HUMAN	N	209	ENSP00000238831:S209N	ENSP00000238831:S209N	S	+	2	0	YIPF4	32384090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.777000	0.95525	0.591000	0.81541	AGT		0.323	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312	
RAB11FIP5	26056	broad.mit.edu	37	2	73315741	73315741	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:73315741C>T	ENST00000258098.6	-	3	1245	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	335					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGACACAGAGCGAAGAGCGGG	0.622																																						uc002siu.4																			0		p.S334F(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1003-1005)tcG>tcA		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							20.0	23.0	22.0					2																	73315741		2203	4299	6502	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315741C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1005G>A	2.37:g.73315741C>T						RAB11FIP5_uc002sit.4_Silent_p.S257S	p.S335S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	1246	-			335					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.1005G>A	CCDS1923.1																																																																																				0.622	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
LCT	3938	broad.mit.edu	37	2	136566075	136566075	+	Missense_Mutation	SNP	G	G	A	rs200491872		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:136566075G>A	ENST00000264162.2	-	8	3852	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1281	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCGTGTTCGGATTGGTCAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		21877	0.001		0.0	False		,,,				2504	0.0					uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3841-3843)cCg>cTg		Homo sapiens lactase (LCT), mRNA.							231.0	205.0	214.0					2																	136566075		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566075G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3842C>T	2.37:g.136566075G>A	ENSP00000264162:p.Pro1281Leu						p.P1281L	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3853	-			1281			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3842C>T	CCDS2178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.453	-0.893043	0.02491	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.31769	1.48	5.9	5.01	0.66863	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.380470	0.03913	N	0.282227	T	0.30665	0.0772	N	0.16708	0.43	0.09310	N	0.999999	B	0.29270	0.24	B	0.33568	0.166	T	0.49688	-0.8913	10	0.46703	T	0.11	-5.8285	16.3313	0.83015	0.0:0.0:0.8667:0.1333	.	1281	P09848	LPH_HUMAN	L	1281;713	ENSP00000264162:P1281L	ENSP00000264162:P1281L	P	-	2	0	LCT	136282545	0.762000	0.28451	0.003000	0.11579	0.003000	0.03518	4.274000	0.58921	1.457000	0.47850	0.563000	0.77884	CCG		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
MBD5	55777	broad.mit.edu	37	2	149248058	149248058	+	Silent	SNP	C	C	T	rs543329958		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:149248058C>T	ENST00000407073.1	+	12	5155	c.4158C>T	c.(4156-4158)ggC>ggT	p.G1386G	MBD5_ENST00000404807.1_Silent_p.G1619G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1386	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G1386G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAATGTTGGCGACTTGGTCT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18682	0.001		0.0	False		,,,				2504	0.0					uc002twm.4																			1	Substitution - coding silent(1)	p.G1386G(2)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(4156-4158)ggC>ggT		Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.							77.0	77.0	77.0					2																	149248058		2203	4300	6503	SO:0001819	synonymous_variant	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248058C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4158C>T	2.37:g.149248058C>T						MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.G644G|MBD5_uc002twp.3_Silent_p.G436G	p.G1386G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	5155	+			1386			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.4158C>T	CCDS33302.1																																																																																				0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
SCN3A	6328	broad.mit.edu	37	2	166019113	166019113	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:166019113T>A	ENST00000360093.3	-	8	1411	c.920A>T	c.(919-921)aAt>aTt	p.N307I	SCN3A_ENST00000409101.3_Missense_Mutation_p.N307I|SCN3A_ENST00000283254.7_Missense_Mutation_p.N307I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	307					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTGTTACATTAACAAATGT	0.363																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(919-921)aAt>aTt		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						122.0	124.0	123.0					2																	166019113		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019113T>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.920A>T	2.37:g.166019113T>A	ENSP00000353206:p.Asn307Ile					SCN3A_uc002ucy.3_Missense_Mutation_p.N307I|SCN3A_uc002ucz.3_Missense_Mutation_p.N307I|SCN3A_uc002uda.1_Missense_Mutation_p.N176I|SCN3A_uc002udb.1_Missense_Mutation_p.N176I	p.N307I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			7	1412	-			307					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.920A>T		.	.	.	.	.	.	.	.	.	.	T	14.87	2.665324	0.47677	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96716	-4.1;-4.09;-4.04;-3.89	5.82	5.82	0.92795	Ion transport (1);	0.000000	0.56097	D	0.000040	D	0.97185	0.9080	L	0.54965	1.715	0.80722	D	1	D;B;B;B;D	0.76494	0.999;0.014;0.004;0.0;0.999	D;B;B;B;D	0.87578	0.998;0.007;0.02;0.005;0.996	D	0.96257	0.9188	10	0.22706	T	0.39	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	307;307;307;307;307	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	307	ENSP00000353206:N307I;ENSP00000283254:N307I;ENSP00000386726:N307I;ENSP00000403348:N307I	ENSP00000283254:N307I	N	-	2	0	SCN3A	165727359	1.000000	0.71417	0.894000	0.35097	0.917000	0.54804	3.670000	0.54569	2.222000	0.72286	0.533000	0.62120	AAT		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN9A	6335	broad.mit.edu	37	2	167055670	167055670	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:167055670C>A	ENST00000409435.1	-	26	5478	c.5479G>T	c.(5479-5481)Gat>Tat	p.D1827Y	SCN9A_ENST00000375387.4_Missense_Mutation_p.D1828Y|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1816Y|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1828Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1827					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGCAGATCCATGGCAATG	0.463																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5446-5448)Gat>Tat		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						121.0	123.0	122.0					2																	167055670		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055670C>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5479G>T	2.37:g.167055670C>A	ENSP00000386330:p.Asp1827Tyr					BC051759_uc002udp.3_Intron	p.D1816Y	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	5787	-			1827					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5446G>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060459	0.76074	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97066	-4.2;-4.23;-4.23;-4.23	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000003	D	0.99013	0.9663	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99167	1.0863	10	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	1816	E7EUN6	.	Y	1816;1828;1828;1827	ENSP00000386306:D1816Y;ENSP00000364536:D1828Y;ENSP00000304748:D1828Y;ENSP00000386330:D1827Y	ENSP00000304748:D1828Y	D	-	1	0	SCN9A	166763916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GAT		0.463	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
ZSWIM2	151112	broad.mit.edu	37	2	187693302	187693302	+	Silent	SNP	T	T	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:187693302T>C	ENST00000295131.2	-	9	1350	c.1311A>G	c.(1309-1311)agA>agG	p.R437R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	437					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATTCCAAGTCTATTTTGTT	0.328																																						uc002upu.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1309-1311)agA>agG		Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.							63.0	69.0	67.0					2																	187693302		2202	4299	6501	SO:0001819	synonymous_variant	151112				apoptosis		zinc ion binding	g.chr2:187693302T>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1311A>G	2.37:g.187693302T>C							p.R437R	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1351	-			437					B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	c.1311A>G	CCDS33348.1																																																																																				0.328	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
ANO7	50636	broad.mit.edu	37	2	242151595	242151595	+	Missense_Mutation	SNP	G	G	A	rs111600763	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:242151595G>A	ENST00000274979.8	+	16	1913	c.1810G>A	c.(1810-1812)Gtc>Atc	p.V604I	ANO7_ENST00000402430.3_Missense_Mutation_p.V603I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	604					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTCCTCACCCGTCTACATTGC	0.562													G|||	26	0.00519169	0.0197	0.0	5008	,	,		21817	0.0		0.0	False		,,,				2504	0.0					uc002wax.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1810-1812)Gtc>Atc		Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.		G	ILE/VAL	91,4315	76.8+/-115.0	0,91,2112	169.0	134.0	146.0		1810	-6.8	0.0	2	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANO7	NM_001001891.3	29	0,92,6411	AA,AG,GG		0.0116,2.0654,0.7074	benign	604/934	242151595	92,12914	2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242151595G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1810G>A	2.37:g.242151595G>A	ENSP00000274979:p.Val604Ile						p.V604I	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			15	1913	+			604					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1810G>A	CCDS33423.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	8.406	0.842986	0.16963	0.020654	1.16E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62639	0.01;0.01	3.87	-6.79	0.01715	.	0.730454	0.12807	N	0.437473	T	0.12433	0.0302	N	0.01874	-0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.15407	-1.0438	10	0.25106	T	0.35	.	5.1511	0.15009	0.2335:0.0:0.403:0.3635	.	604	Q6IWH7	ANO7_HUMAN	I	604;603	ENSP00000274979:V604I;ENSP00000385418:V603I	ENSP00000274979:V604I	V	+	1	0	ANO7	241800268	0.014000	0.17966	0.009000	0.14445	0.874000	0.50279	0.029000	0.13666	-0.926000	0.03770	-0.839000	0.03059	GTC		0.562	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
SLC5A4	6527	broad.mit.edu	37	22	32627012	32627012	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr22:32627012C>G	ENST00000266086.4	-	10	1083	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	358					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCCAACATCAACGCCACAG	0.522																																						uc003ami.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1072-1074)Gat>Cat		Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.							139.0	102.0	115.0					22																	32627012		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32627012C>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1072G>C	22.37:g.32627012C>G	ENSP00000266086:p.Asp358His						p.D358H	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			9	1074	-			358					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1072G>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	4.325	0.059641	0.08339	.	.	ENSG00000100191	ENST00000266086	D	0.88201	-2.35	4.86	-0.775	0.10988	.	0.831682	0.11397	N	0.568170	T	0.80696	0.4672	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.68739	-0.5329	10	0.54805	T	0.06	.	8.7848	0.34814	0.0:0.5696:0.0:0.4304	.	358	Q9NY91	SC5A4_HUMAN	H	358	ENSP00000266086:D358H	ENSP00000266086:D358H	D	-	1	0	SLC5A4	30957012	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.694000	0.05115	0.074000	0.16767	0.650000	0.86243	GAT		0.522	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
CHL1	10752	broad.mit.edu	37	3	383663	383663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:383663G>A	ENST00000256509.2	+	7	1219	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	CHL1_ENST00000397491.2_Missense_Mutation_p.V193M	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTCGCAAACGTGGAAGAAAA	0.383																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(577-579)Gtg>Atg		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							95.0	89.0	91.0					3																	383663		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:383663G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.577G>A	3.37:g.383663G>A	ENSP00000256509:p.Val193Met					CHL1_uc003bou.3_Missense_Mutation_p.V193M|CHL1_uc003bow.2_Missense_Mutation_p.V193M|CHL1_uc011asi.2_Missense_Mutation_p.V193M	p.V193M	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	6	1219	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	193			Ig-like C2-type 2.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.577G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460372	0.84317	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.51325	0.71;0.71	5.43	5.43	0.79202	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130119	0.52532	D	0.000076	T	0.72875	0.3515	M	0.86097	2.795	0.48762	D	0.999701	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.995;0.983	T	0.77138	-0.2698	10	0.87932	D	0	.	17.7511	0.88434	0.0:0.0:1.0:0.0	.	193;193;193	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	M	193	ENSP00000256509:V193M;ENSP00000380628:V193M	ENSP00000256509:V193M	V	+	1	0	CHL1	358663	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	6.953000	0.75995	2.696000	0.92011	0.591000	0.81541	GTG		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
ZBTB20	26137	broad.mit.edu	37	3	114069362	114069362	+	Frame_Shift_Del	DEL	G	G	-	rs201414136		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:114069362delG	ENST00000474710.1	-	4	1741	c.1563delC	c.(1561-1563)cccfs	p.P521fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P448fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P448fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P448fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	521						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.3																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1561-1563)cccfs		Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.							49.0	52.0	51.0					3																	114069362		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069362delG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1563delC	3.37:g.114069362delG	ENSP00000419153:p.Pro521fs					ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_uc003ebo.2_5'Flank	p.P521fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	3	1743	-			521					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1563delC	CCDS54626.1																																																																																				0.627	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
SPOCK3	50859	broad.mit.edu	37	4	167656159	167656159	+	Silent	SNP	A	A	G			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr4:167656159A>G	ENST00000357154.3	-	12	1361	c.1224T>C	c.(1222-1224)atT>atC	p.I408I	SPOCK3_ENST00000510741.1_Silent_p.I365I|SPOCK3_ENST00000511531.1_Silent_p.I408I|SPOCK3_ENST00000357545.4_Silent_p.I405I|SPOCK3_ENST00000504953.1_Silent_p.I405I|SPOCK3_ENST00000506886.1_Silent_p.I408I|SPOCK3_ENST00000502330.1_Silent_p.I408I|SPOCK3_ENST00000421836.2_Silent_p.I357I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000534949.1_Silent_p.I312I|SPOCK3_ENST00000541354.1_Silent_p.I288I|SPOCK3_ENST00000512681.1_Silent_p.I310I|SPOCK3_ENST00000541637.1_Silent_p.I310I|SPOCK3_ENST00000535728.1_Silent_p.I276I|SPOCK3_ENST00000511269.1_Silent_p.I405I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	408	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		catcattcataatatcgtctt	0.363																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(1249-1251)atT>atC		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							194.0	181.0	185.0					4																	167656159		2203	4299	6502	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656159A>G	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1224T>C	4.37:g.167656159A>G						SPOCK3_uc021xuf.1_Silent_p.I408I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003iri.1_Silent_p.I408I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cjp.2_Silent_p.I365I|SPOCK3_uc011cju.1_Silent_p.I312I|SPOCK3_uc011cjv.1_Silent_p.I310I	p.I417I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	9	1308	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	408			Asp-rich.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.1251T>C	CCDS54817.1																																																																																				0.363	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
FSTL4	23105	broad.mit.edu	37	5	132556518	132556518	+	Silent	SNP	G	G	A	rs141735817	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:132556518G>A	ENST00000265342.7	-	12	1629	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CTB-49A3.2_ENST00000509051.1_RNA|FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	460						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATGATACCGTCGTCGGAGA	0.547																																						uc003kyn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1378-1380)gaC>gaT		Homo sapiens follistatin-like 4 (FSTL4), mRNA.		G		0,4406		0,0,2203	141.0	126.0	131.0		1380	-2.2	0.1	5	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FSTL4	NM_015082.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		460/843	132556518	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132556518G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1380C>T	5.37:g.132556518G>A						FSTL4_uc003kym.1_Silent_p.D109D	p.D460D	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1598	-		all_cancers(142;0.244)	460					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1380C>T	CCDS34238.1																																																																																				0.547	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
PCDHA9	9752	broad.mit.edu	37	5	140229589	140229589	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:140229589G>A	ENST00000532602.1	+	1	2542	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S503S|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S503S(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCTCGCTGTCGAGCT	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - coding silent(2)	p.S503S(2)	breast(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1507-1509)tcG>tcA		Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.							61.0	67.0	65.0					5																	140229589		2196	4271	6467	SO:0001819	synonymous_variant	9752				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140229589G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1509G>A	5.37:g.140229589G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S503S	p.S503S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2233	+			517			Cadherin 5.		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1509G>A	CCDS54920.1																																																																																				0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
LAMB1	3912	broad.mit.edu	37	7	107591684	107591684	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr7:107591684G>A	ENST00000222399.6	-	24	3608	c.3378C>T	c.(3376-3378)gaC>gaT	p.D1126D	LAMB1_ENST00000393561.1_Silent_p.D1150D	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1126	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCACTCCACGTCGGGGTCTC	0.572																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3448-3450)gaC>gaT		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						51.0	48.0	49.0					7																	107591684		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107591684G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3378C>T	7.37:g.107591684G>A						LAMB1_uc003vew.2_Silent_p.D1126D	p.D1150D	NM_002291	NP_002282	P07942	LAMB1_HUMAN			21	3611	-			1126			Laminin EGF-like 13.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3450C>T	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
SGK223	157285	broad.mit.edu	37	8	8175745	8175745	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr8:8175745G>A	ENST00000520004.1	-	6	4404	c.4140C>T	c.(4138-4140)tgC>tgT	p.C1380C	SGK223_ENST00000330777.4_Silent_p.C1380C			Q86YV5	SG223_HUMAN		1384							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTACTGGCAGCAAAGCCAGT	0.642																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(4138-4140)tgC>tgT		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							51.0	63.0	59.0					8																	8175745		2101	4206	6307	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175745G>A																												ENST00000520004.1:c.4140C>T	8.37:g.8175745G>A							p.C1380C	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	4140	-			1380					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.4140C>T	CCDS43706.1																																																																																				0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
PIP5K1B	8395	broad.mit.edu	37	9	71555697	71555697	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:71555697A>C	ENST00000265382.3	+	14	1798	c.1493A>C	c.(1492-1494)tAt>tCt	p.Y498S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.Y498S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	498					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCTACACTCTATTCAAACAGG	0.443																																						uc004agu.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1492-1494)tAt>tCt		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.							232.0	192.0	206.0					9																	71555697		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555697A>C	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1493A>C	9.37:g.71555697A>C	ENSP00000265382:p.Tyr498Ser					PIP5K1B_uc011lrq.2_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.3_Non-coding_Transcript	p.Y498S	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	13	1798	+			498					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1493A>C	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621742	0.28889	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27402	1.67;1.76	5.78	2.07	0.26955	.	0.611534	0.16592	N	0.207721	T	0.20861	0.0502	L	0.47716	1.5	0.31266	N	0.692345	B	0.12013	0.005	B	0.06405	0.002	T	0.35101	-0.9802	10	0.08381	T	0.77	-14.5121	7.0067	0.24840	0.7431:0.1253:0.1316:0.0	.	498	O14986	PI51B_HUMAN	S	498;498;498;445	ENSP00000438082:Y498S;ENSP00000265382:Y498S	ENSP00000265382:Y498S	Y	+	2	0	PIP5K1B	70745517	1.000000	0.71417	0.854000	0.33618	0.585000	0.36419	3.401000	0.52601	0.102000	0.17638	-0.274000	0.10170	TAT		0.443	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	
SUSD1	64420	broad.mit.edu	37	9	114840947	114840947	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:114840947T>C	ENST00000374270.3	-	12	1796	c.1624A>G	c.(1624-1626)Aat>Gat	p.N542D	SUSD1_ENST00000374263.3_Missense_Mutation_p.N542D|SUSD1_ENST00000374264.2_Missense_Mutation_p.N542D	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	542						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGATATTAAAGGTCATT	0.488																																						uc010mui.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1624-1626)Aat>Gat		Homo sapiens sushi domain containing 1 (SUSD1), mRNA.							136.0	135.0	135.0					9																	114840947		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840947T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1624A>G	9.37:g.114840947T>C	ENSP00000363388:p.Asn542Asp					MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.N542D|SUSD1_uc010muj.3_Missense_Mutation_p.N542D	p.N542D			Q6UWL2	SUSD1_HUMAN			11	1665	-			542					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1624A>G	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	t	14.09	2.431040	0.43122	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.29142	1.58;1.58;1.58	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000096	T	0.50188	0.1601	M	0.65975	2.015	0.36334	D	0.859068	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.56360	-0.7992	10	0.27785	T	0.31	-26.8097	11.6038	0.51020	0.0:0.0:0.0:1.0	.	542;542;542	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	D	542	ENSP00000363388:N542D;ENSP00000363381:N542D;ENSP00000363382:N542D	ENSP00000363381:N542D	N	-	1	0	SUSD1	113880768	1.000000	0.71417	0.949000	0.38748	0.339000	0.28857	4.268000	0.58883	2.051000	0.60960	0.524000	0.50904	AAT		0.488	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
CHDC2	286464	broad.mit.edu	37	X	36103467	36103467	+	Silent	SNP	G	G	A	rs528323979		TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:36103467G>A	ENST00000313548.4	+	5	639	c.453G>A	c.(451-453)tcG>tcA	p.S151S		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	151						integral component of membrane (GO:0016021)		p.S151S(1)									CATCAACCTCGCCACCCCAAA	0.333													g|||	1	0.000264901	0.0	0.0014	3775	,	,		10470	0.0		0.0	False		,,,				2504	0.0					uc004ddk.1																			1	Substitution - coding silent(1)	p.S151S(2)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.(451-453)tcG>tcA		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							84.0	82.0	83.0					X																	36103467		2202	4300	6502	SO:0001819	synonymous_variant	286464					integral to membrane		g.chrX:36103467G>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.453G>A	X.37:g.36103467G>A							p.S151S	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	639	+			151						Silent	SNP	ENST00000313548.4	37	c.453G>A	CCDS14238.1																																																																																				0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
DCAF12L2	340578	broad.mit.edu	37	X	125299499	125299499	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:125299499G>A	ENST00000360028.2	-	1	435	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R137W			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	137										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCCTTGTCCCGCATGAGGGGG	0.642																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(409-411)Cgg>Tgg		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							82.0	79.0	80.0					X																	125299499		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299499G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.409C>T	X.37:g.125299499G>A	ENSP00000353128:p.Arg137Trp						p.R137W	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	582	-			137					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.409C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.501	1.103254	0.20632	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35789	1.29;1.29	3.75	-1.73	0.08081	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.36799	0.0980	M	0.64997	1.995	0.20403	N	0.999908	D	0.67145	0.996	P	0.50791	0.65	T	0.26360	-1.0105	9	0.87932	D	0	.	1.8557	0.03178	0.1076:0.3139:0.2557:0.3228	.	137	Q5VW00	DC122_HUMAN	W	137	ENSP00000441489:R137W;ENSP00000353128:R137W	ENSP00000353128:R137W	R	-	1	2	DCAF12L2	125127180	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	1.557000	0.36299	-0.547000	0.06207	-0.337000	0.08149	CGG		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
OR13H1	347468	broad.mit.edu	37	X	130678349	130678349	+	Missense_Mutation	SNP	C	C	T	rs149527425	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:130678349C>T	ENST00000338616.3	+	1	400	c.302C>T	c.(301-303)aCg>aTg	p.T101M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTGGCTCAAACGAGTGTCTCC	0.517																																						uc011muw.2																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(301-303)aCg>aTg		Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.		C	MET/THR	0,3835		0,0,0,1632,571	152.0	120.0	131.0		302	3.7	0.3	X	dbSNP_134	131	15,6713		0,9,6,2419,1866	yes	missense	OR13H1	NM_001004486.1	81	0,9,6,4051,2437	TT,TC,T,CC,C		0.2229,0.0,0.142	benign	101/309	130678349	15,10548	2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678349C>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.302C>T	X.37:g.130678349C>T	ENSP00000340748:p.Thr101Met					IGSF1_uc004ewf.2_Intron	p.T101M	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			0	302	+	Acute lymphoblastic leukemia(192;0.000636)		101					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.302C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.175934	0.00027	0.0	0.002229	ENSG00000171054	ENST00000338616	T	0.03065	4.06	4.86	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.280906	0.25130	N	0.032909	T	0.00845	0.0028	N	0.00146	-1.995	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44742	-0.9308	10	0.07644	T	0.81	.	7.7639	0.28968	0.0:0.1006:0.0:0.8994	.	101	Q8NG92	O13H1_HUMAN	M	101	ENSP00000340748:T101M	ENSP00000340748:T101M	T	+	2	0	OR13H1	130506030	0.992000	0.36948	0.294000	0.24946	0.002000	0.02628	1.301000	0.33447	0.699000	0.31761	-0.314000	0.08810	ACG		0.517	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1		
