#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CACNA1S	779	broad.mit.edu	37	1	201046222	201046222	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046222G>A	ENST00000362061.3	-	12	1879	c.1653C>T	c.(1651-1653)tcC>tcT	p.S551S	CACNA1S_ENST00000367338.3_Silent_p.S551S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	551					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)	AGTTGAGCAGGGATGCCACCA	0.607																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1651-1653)tcC>tcT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						105.0	97.0	99.0					1																	201046222		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046222G>A	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.1653C>T	1.37:g.201046222G>A						CACNA1S_ENST00000367338.3_Silent_p.S551S	p.S551S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1879	-			551					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1653C>T	CCDS1407.1																																																																																				0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	33	0	0	0	1	0	13	33				
YME1L1	10730	broad.mit.edu	37	10	27436406	27436406	+	Intron	SNP	T	T	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:27436406T>C	ENST00000326799.3	-	3	488				YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000477432.1_Silent_p.Q120Q|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAATAGGCATTTGGAGAAACC	0.463																																						ENST00000477432.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(358-360)caA>caG		YME1-like 1 ATPase							146.0	127.0	133.0					10																	27436406		2203	4300	6503	SO:0001627	intron_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436406T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.339+20A>G	10.37:g.27436406T>C						YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron	p.Q120Q			Q96TA2	YMEL1_HUMAN			3	1415	-			0					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.360A>G	CCDS7152.1																																																																																				0.463	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	15	0	0	0	1	0	3	15				
DLC1	10395	broad.mit.edu	37	8	12952652	12952652	+	Silent	SNP	C	C	T	rs138098839		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:12952652C>T	ENST00000276297.4	-	11	3679	c.3270G>A	c.(3268-3270)ccG>ccA	p.P1090P	DLC1_ENST00000358919.2_Silent_p.P653P|DLC1_ENST00000512044.2_Silent_p.P687P|DLC1_ENST00000520226.1_Silent_p.P579P|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1090	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTGAGGCAACGGTTGTCCTG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20762	0.0		0.001	False		,,,				2504	0.0					ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3268-3270)ccG>ccA		deleted in liver cancer 1		C	,,	0,4406		0,0,2203	144.0	110.0	121.0		1737,1959,3270	0.9	1.0	8	dbSNP_134	121	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	579/1018,653/1092,1090/1529	12952652	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952652C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3270G>A	8.37:g.12952652C>T						DLC1_ENST00000358919.2_Silent_p.P653P|DLC1_ENST00000512044.2_Silent_p.P687P|DLC1_ENST00000520226.1_Silent_p.P579P|DLC1_ENST00000510318.1_5'UTR	p.P1090P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			11	3679	-			1090			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3270G>A	CCDS5989.1																																																																																				0.592	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	38	0	0	0	1	0	5	38				
KRIT1	889	broad.mit.edu	37	7	91830634	91830634	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:91830634A>C	ENST00000340022.2	-	18	3147	c.2129T>G	c.(2128-2130)gTa>gGa	p.V710G	KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394507.1_Missense_Mutation_p.V710G|MIR1285-1_ENST00000408593.1_RNA	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.V710E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTATGTACTATAAAGCT	0.289																																						ENST00000394507.1																			1	Substitution - Missense(1)	p.V710E(1)	haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(2128-2130)gTa>gGa		KRIT1, ankyrin repeat containing							66.0	68.0	68.0					7																	91830634		2203	4294	6497	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91830634A>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.2129T>G	7.37:g.91830634A>C	ENSP00000344668:p.Val710Gly					KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G	p.V710G	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2912	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		710			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.2129T>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799161	0.70567	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.75367	0.47;0.47;0.47;0.47;-0.93	5.74	4.59	0.56863	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.967;0.998;0.967	D;D;D	0.76071	0.95;0.987;0.95	T	0.83212	-0.0073	10	0.87932	D	0	0.0	11.5572	0.50755	0.9301:0.0:0.0699:0.0	.	710;662;710	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	G	710;710;710;710;662	ENSP00000378015:V710G;ENSP00000344668:V710G;ENSP00000410909:V710G;ENSP00000378013:V710G;ENSP00000378011:V662G	ENSP00000344668:V710G	V	-	2	0	KRIT1	91668570	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.774000	0.91767	1.004000	0.39156	-0.334000	0.08254	GTA		0.289	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			5	134	0	0	0	1	0	5	134				
AR	367	broad.mit.edu	37	X	66905906	66905906	+	Missense_Mutation	SNP	G	G	A	rs137852573		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chrX:66905906G>A	ENST00000374690.3	+	3	2347	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000504326.1_Missense_Mutation_p.R608Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.R608Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	607	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		R -> K (in PAIS and breast cancer; defective nuclear localization). {ECO:0000269|PubMed:1424203, ECO:0000269|PubMed:8281139, ECO:0000269|PubMed:9196614}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GATAAATTCCGAAGGAAAAAT	0.423									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM920073	AR	M	rs137852573	c.(1822-1824)cGa>cAa		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						127.0	108.0	114.0					X																	66905906		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66905906G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1823G>A	X.37:g.66905906G>A	ENSP00000363822:p.Arg608Gln					AR_ENST00000504326.1_Missense_Mutation_p.R608Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000396044.3_Missense_Mutation_p.R608Q	p.R608Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			3	2347	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	607		R -> K (in PAIS and breast cancer; defective nuclear localization).	Interaction with HIPK3 (By similarity).		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1823G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375561	0.95923	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.28	5.28	0.74379	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	L	0.45352	1.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.998	D	0.98231	1.0483	10	0.87932	D	0	.	15.0966	0.72238	0.0:0.0:1.0:0.0	.	608;608;76;607	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Q	418;608;608;608;76	ENSP00000363822:R608Q;ENSP00000421155:R608Q;ENSP00000379359:R608Q;ENSP00000379358:R76Q	ENSP00000363822:R608Q	R	+	2	0	AR	66822631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.054000	0.93866	2.447000	0.82792	0.523000	0.50628	CGA		0.423	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		10	24	0	0	0	1	0	10	24				
PER1	5187	broad.mit.edu	37	17	8045265	8045265	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:8045265G>A	ENST00000317276.4	-	22	3695	c.3458C>T	c.(3457-3459)aCc>aTc	p.T1153I	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1153	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCACAGAGGTCATGTCCCT	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3457-3459)aCc>aTc	Other conserved DNA damage response genes	period circadian clock 1							44.0	46.0	45.0					17																	8045265		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045265G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3458C>T	17.37:g.8045265G>A	ENSP00000314420:p.Thr1153Ile					PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	p.T1153I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			22	3695	-			1153			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3458C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274201	0.59649	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.67	4.64	0.57946	Period circadian-like, C-terminal (1);	0.241197	0.38663	N	0.001608	T	0.07773	0.0195	N	0.08118	0	0.80722	D	1	P;B	0.35226	0.491;0.111	B;B	0.34652	0.187;0.023	T	0.19128	-1.0315	10	0.87932	D	0	-14.5649	10.9962	0.47578	0.0:0.0:0.7034:0.2966	.	1144;1153	A2I2P6;O15534	.;PER1_HUMAN	I	1153	ENSP00000314420:T1153I	ENSP00000314420:T1153I	T	-	2	0	PER1	7985990	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	3.526000	0.53509	2.697000	0.92050	0.655000	0.94253	ACC		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	40	0	0	0	1	0	5	40				
CACNA1S	779	broad.mit.edu	37	1	201044699	201044699	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201044699G>C	ENST00000362061.3	-	13	2098	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	624					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)	CGTAGGCCATGATCCCATTGT	0.547																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1870-1872)atC>atG		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						206.0	183.0	191.0					1																	201044699		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.chr1:201044699G>C	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.1872C>G	1.37:g.201044699G>C	ENSP00000355192:p.Ile624Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	p.I624M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			13	2098	-			624					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1872C>G	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906689	0.52333	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98329	-4.87;-4.87	4.45	3.52	0.40303	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	L	0.35793	1.09	0.40523	D	0.980858	D	0.76494	0.999	D	0.78314	0.991	D	0.96461	0.9341	10	0.66056	D	0.02	.	6.5916	0.22649	0.1526:0.0:0.6924:0.155	.	624	Q13698	CAC1S_HUMAN	M	624	ENSP00000355192:I624M;ENSP00000356307:I624M	ENSP00000355192:I624M	I	-	3	3	CACNA1S	199311322	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.003000	0.40844	2.194000	0.70268	0.643000	0.83706	ATC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		18	61	0	0	0	1	0	18	61				
SCN1A	6323	broad.mit.edu	37	2	166848111	166848111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:166848111G>A	ENST00000303395.4	-	26	5673	c.5674C>T	c.(5674-5676)Cga>Tga	p.R1892*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1864*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1881*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R1892*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1892					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCATGAATCGCTCTTCCATC	0.438																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM024313	SCN1A	M		c.(5674-5676)Cga>Tga		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						97.0	90.0	92.0					2																	166848111		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848111G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5674C>T	2.37:g.166848111G>A	ENSP00000303540:p.Arg1892*					SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1864*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1892*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1881*|AC010127.3_ENST00000595647.1_RNA	p.R1892*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5691	-			1892					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.5674C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	42	9.372244	0.99151	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.6	1.34	0.21922	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5002	0.75691	0.0:0.0:0.54:0.46	.	.	.	.	X	1892;1892;1881;1864	.	ENSP00000303540:R1892X	R	-	1	2	SCN1A	166556357	1.000000	0.71417	0.952000	0.39060	0.997000	0.91878	3.343000	0.52167	0.341000	0.23771	0.650000	0.86243	CGA		0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		10	51	0	0	0	1	0	10	51				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	47	0	0	0	1	0	4	47				
TPSAB1	7177	broad.mit.edu	37	16	1291438	1291438	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:1291438C>T	ENST00000338844.3	+	4	270	c.237C>T	c.(235-237)gaC>gaT	p.D79D	TPSAB1_ENST00000461509.2_Silent_p.D86D	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCCCAGGGACGTCAAGGATC	0.687																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(256-258)gaC>gaT		tryptase alpha/beta 1							7.0	8.0	8.0					16																	1291438		2040	4061	6101	SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291438C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.237C>T	16.37:g.1291438C>T						TPSAB1_ENST00000338844.3_Silent_p.D79D	p.D86D			P20231	TRYB2_HUMAN			3	452	+		Hepatocellular(780;0.00369)	79			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.258C>T	CCDS10431.1																																																																																				0.687	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		3	13	0	0	0	1	0	3	13				
ABHD1	84696	broad.mit.edu	37	2	27351917	27351917	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:27351917T>G	ENST00000316470.4	+	3	494	c.380T>G	c.(379-381)cTg>cGg	p.L127R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	127						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTGCTGCTGCTTCCTGGC	0.567																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(379-381)cTg>cGg		abhydrolase domain containing 1							86.0	79.0	81.0					2																	27351917		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27351917T>G	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.380T>G	2.37:g.27351917T>G	ENSP00000326491:p.Leu127Arg						p.L127R	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			3	494	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		127					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.380T>G	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302013	0.81136	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.75589	-0.95;-0.95	4.82	4.82	0.62117	.	0.206543	0.33235	N	0.005125	D	0.85881	0.5800	M	0.85859	2.78	0.38540	D	0.949194	D	0.76494	0.999	D	0.79108	0.992	D	0.88767	0.3261	10	0.87932	D	0	-5.7474	10.6989	0.45915	0.0:0.0:0.0:1.0	.	127	Q96SE0	ABHD1_HUMAN	R	127;64	ENSP00000326491:L127R;ENSP00000397522:L64R	ENSP00000326491:L127R	L	+	2	0	ABHD1	27205421	1.000000	0.71417	0.796000	0.32109	0.976000	0.68499	4.850000	0.62889	2.019000	0.59389	0.459000	0.35465	CTG		0.567	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		11	28	0	0	0	1	0	11	28				
IMPG2	50939	broad.mit.edu	37	3	101023020	101023020	+	Silent	SNP	T	T	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:101023020T>C	ENST00000193391.7	-	3	658	c.471A>G	c.(469-471)gaA>gaG	p.E157E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	157					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTTCCACAGATTCACTAAAAT	0.408																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(469-471)gaA>gaG		interphotoreceptor matrix proteoglycan 2							162.0	157.0	158.0					3																	101023020		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101023020T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.471A>G	3.37:g.101023020T>C							p.E157E	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			3	658	-			157					A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.471A>G	CCDS2940.1																																																																																				0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			15	76	0	0	0	1	0	15	76				
PEX5L	51555	broad.mit.edu	37	3	179605498	179605498	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:179605498C>T	ENST00000467460.1	-	4	603	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	91					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTATTGCTTCCGATTTGGTTT	0.413																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(271-273)tcG>tcA		peroxisomal biogenesis factor 5-like							221.0	220.0	220.0					3																	179605498		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605498C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.273G>A	3.37:g.179605498C>T						PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR	p.S91S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	603	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		91					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.273G>A	CCDS3236.1																																																																																				0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		22	80	0	0	0	1	0	22	80				
SLC25A46	91137	broad.mit.edu	37	5	110097084	110097084	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:110097084C>T	ENST00000355943.3	+	8	985	c.859C>T	c.(859-861)Cta>Tta	p.L287L	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Silent_p.L141L|SLC25A46_ENST00000509432.1_Silent_p.L74L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	287					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GAAGTTTGTCCTACTAATTCT	0.408																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(859-861)Cta>Tta		solute carrier family 25, member 46							147.0	147.0	147.0					5																	110097084		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097084C>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.859C>T	5.37:g.110097084C>T						SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Silent_p.L141L|SLC25A46_ENST00000513706.1_3'UTR	p.L287L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	985	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	287					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.859C>T	CCDS4100.1																																																																																				0.408	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		14	78	0	0	0	1	0	14	78				
NYAP2	57624	broad.mit.edu	37	2	226447087	226447087	+	Silent	SNP	G	G	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:226447087G>T	ENST00000272907.6	+	4	1367	c.954G>T	c.(952-954)ctG>ctT	p.L318L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	318	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCAAGGGGCTGCTTTGCGACA	0.632																																						ENST00000272907.6																			0											c.(952-954)ctG>ctT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							51.0	54.0	53.0					2																	226447087		1995	4152	6147	SO:0001819	synonymous_variant	57624							g.chr2:226447087G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.954G>T	2.37:g.226447087G>T						NYAP2_ENST00000409269.2_Intron	p.L318L	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1367	+			318			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.954G>T	CCDS46529.1																																																																																				0.632	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		9	32	1	0	0.00829132	1	0.00855042	9	32				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	42	1	0	0.150653	1	0.152971	4	42				
GPR84	53831	broad.mit.edu	37	12	54756711	54756711	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:54756711C>A	ENST00000551809.1	-	1	1560	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAAGAATCCGGAGCTCTT	0.498																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(925-927)Gat>Tat		G protein-coupled receptor 84							128.0	131.0	130.0					12																	54756711		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756711C>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.925G>T	12.37:g.54756711C>A	ENSP00000450310:p.Asp309Tyr					GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.D309Y			Q9NQS5	GPR84_HUMAN			1	1560	-			309					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.925G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623991	0.28889	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38077	1.16;1.16	4.22	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.279835	0.26738	N	0.022746	T	0.45677	0.1354	L	0.47716	1.5	0.42683	D	0.993557	D	0.61697	0.99	P	0.62298	0.9	T	0.36359	-0.9751	10	0.49607	T	0.09	-11.6334	9.823	0.40894	0.0:0.8959:0.0:0.1041	.	309	Q9NQS5	GPR84_HUMAN	Y	309	ENSP00000267015:D309Y;ENSP00000450310:D309Y	ENSP00000267015:D309Y	D	-	1	0	GPR84	53042978	0.219000	0.23619	0.832000	0.32986	0.033000	0.12548	0.672000	0.25187	2.359000	0.80004	0.561000	0.74099	GAT		0.498	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			19	94	1	0	2.35188e-11	1	2.54466e-11	19	94				
CPN1	1369	broad.mit.edu	37	10	101802208	101802208	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:101802208C>T	ENST00000370418.3	-	9	1604	c.1353G>A	c.(1351-1353)agG>agA	p.R451R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	451					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCTGCAGCTGCCTCATCTCCA	0.532																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1351-1353)agG>agA		carboxypeptidase N, polypeptide 1							95.0	85.0	88.0					10																	101802208		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101802208C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1353G>A	10.37:g.101802208C>T							p.R451R	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	9	1604	-		Colorectal(252;0.234)	451					B1AP59	Silent	SNP	ENST00000370418.3	37	c.1353G>A	CCDS7486.1																																																																																				0.532	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		9	55	0	0	0	1	0	9	55				
SYNDIG1	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	rs139628724	byFrequency	TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652													G|||	10	0.00199681	0.0045	0.0014	5008	,	,		16776	0.0		0.003	False		,,,				2504	0.0					ENST00000376862.3																			2	Substitution - Missense(2)	p.V98M(2)	lung(2)	breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(292-294)Gtg>Atg		synapse differentiation inducing 1		G	MET/VAL	15,4391	22.3+/-47.3	0,15,2188	57.0	56.0	56.0		292	0.3	0.0	20	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SYNDIG1	NM_024893.1	21	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	probably-damaging	98/259	24524025	16,12990	2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524025G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.292G>A	20.37:g.24524025G>A	ENSP00000366058:p.Val98Met						p.V98M	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	925	+			98					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.292G>A	CCDS13164.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.143	1.014253	0.19277	0.003404	1.16E-4	ENSG00000101463	ENST00000376862	D	0.91068	-2.78	5.95	0.329	0.15924	.	0.379543	0.26213	N	0.025661	D	0.86138	0.5861	M	0.66939	2.045	0.37062	D	0.898114	B	0.22480	0.07	B	0.13407	0.009	T	0.77504	-0.2563	10	0.49607	T	0.09	-8.0338	6.5814	0.22596	0.2197:0.1359:0.6445:0.0	.	98	Q9H7V2	SYNG1_HUMAN	M	98	ENSP00000366058:V98M	ENSP00000366058:V98M	V	+	1	0	SYNDIG1	24472025	0.000000	0.05858	0.045000	0.18777	0.482000	0.33219	-0.700000	0.05081	-0.197000	0.10350	-0.211000	0.12701	GTG		0.652	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		11	55	0	0	0	1	0	11	55				
AKAP1	8165	broad.mit.edu	37	17	55197639	55197639	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:55197639A>G	ENST00000337714.3	+	11	2899	c.2666A>G	c.(2665-2667)gAg>gGg	p.E889G	AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	889					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCCTGGTGGAGCGAGGCCTT	0.512																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2665-2667)gAg>gGg		A kinase (PRKA) anchor protein 1							160.0	133.0	142.0					17																	55197639		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55197639A>G	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2666A>G	17.37:g.55197639A>G	ENSP00000337736:p.Glu889Gly					AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G	p.E889G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			11	2899	+	Breast(9;5.46e-08)		889					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2666A>G	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035431	0.54896	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.18502	2.21;2.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.03103	-1.1072	10	0.72032	D	0.01	-30.4203	15.3314	0.74215	1.0:0.0:0.0:0.0	.	889	Q92667	AKAP1_HUMAN	G	889;931;889	ENSP00000337736:E889G;ENSP00000443139:E889G	ENSP00000337736:E889G	E	+	2	0	AKAP1	52552638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.304000	0.89958	2.224000	0.72417	0.533000	0.62120	GAG		0.512	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			19	16	0	0	0	1	0	19	16				
CXXC5	51523	broad.mit.edu	37	5	139060727	139060727	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:139060727G>T	ENST00000302517.3	+	2	1333	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	CXXC5_ENST00000511048.1_Missense_Mutation_p.D207Y|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	207					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCAGTCCGACTTCCCCTA	0.662																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(619-621)Gac>Tac		CXXC finger protein 5							25.0	30.0	28.0					5																	139060727		2073	4194	6267	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060727G>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.619G>T	5.37:g.139060727G>T	ENSP00000302543:p.Asp207Tyr					CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.D207Y	p.D207Y	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1333	+			207					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.619G>T	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841914	0.71488	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.46	5.46	0.80206	.	0.048855	0.85682	D	0.000000	T	0.65739	0.2720	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.69239	-0.5197	9	0.72032	D	0.01	-31.713	17.4774	0.87662	0.0:0.0:1.0:0.0	.	207	Q7LFL8	CXXC5_HUMAN	Y	207	.	ENSP00000302543:D207Y	D	+	1	0	CXXC5	139040911	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.373000	0.97168	2.566000	0.86566	0.555000	0.69702	GAC		0.662	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		6	22	1	0	2.7689e-08	1	2.90075e-08	6	22				
RBFOX1	54715	broad.mit.edu	37	16	7647415	7647415	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:7647415G>A	ENST00000550418.1	+	9	1592	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	RBFOX1_ENST00000340209.4_Missense_Mutation_p.V207I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V245I|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V222I|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V219I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V222I|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V159I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V222I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V245I	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	202					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TAAAAAGACCGTCAACCCTTA	0.348																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(619-621)Gtc>Atc		RNA binding protein, fox-1 homolog (C. elegans) 1							103.0	95.0	97.0					16																	7647415		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7647415G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.604G>A	16.37:g.7647415G>A	ENSP00000450031:p.Val202Ile					RBFOX1_ENST00000547338.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V222I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V222I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V245I|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V159I|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V219I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V222I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V245I	p.V207I			Q9NWB1	RFOX1_HUMAN			6	916	+			202					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.619G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958803	0.34565	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.91;1.43;1.81;1.7;1.71;1.83;1.43;1.49;1.69;1.7;1.41	5.96	5.0	0.66597	.	0.062078	0.64402	D	0.000004	T	0.39886	0.1095	L	0.46157	1.445	0.53688	D	0.999979	P;D;P;P;P;D;P;P;P	0.67145	0.527;0.996;0.956;0.882;0.898;0.963;0.864;0.786;0.86	B;P;B;B;B;P;B;B;P	0.56648	0.23;0.803;0.195;0.356;0.388;0.462;0.206;0.102;0.459	T	0.10753	-1.0616	10	0.30078	T	0.28	-9.6997	12.1821	0.54218	0.0:0.1298:0.7351:0.1351	.	222;159;245;222;222;222;202;202;245	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	I	201;202;202;245;245;159;219;202;202;222;222;222;222;207	ENSP00000450402:V201I;ENSP00000450031:V202I;ENSP00000447753:V202I;ENSP00000446842:V245I;ENSP00000391269:V245I;ENSP00000447281:V202I;ENSP00000447717:V202I;ENSP00000402745:V222I;ENSP00000309117:V222I;ENSP00000347855:V222I;ENSP00000344196:V207I	ENSP00000309117:V222I	V	+	1	0	RBFOX1	7587416	1.000000	0.71417	0.939000	0.37840	0.991000	0.79684	5.414000	0.66405	1.522000	0.49001	0.655000	0.94253	GTC		0.348	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		6	78	0	0	0	1	0	6	78				
ST18	9705	broad.mit.edu	37	8	53079457	53079457	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:53079457G>A	ENST00000276480.7	-	11	1842	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	387					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAAAGGCTGCGGTGGTGCGGG	0.562																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1159-1161)Cgc>Tgc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							100.0	100.0	100.0					8																	53079457		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079457G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1159C>T	8.37:g.53079457G>A	ENSP00000276480:p.Arg387Cys						p.R387C	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1842	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	387					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1159C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701536	0.88924	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.65916	-0.06;-0.18	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.91300	3.195	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64687	0.928;0.923	D	0.86925	0.2069	10	0.87932	D	0	-17.1765	19.5372	0.95257	0.0:0.0:1.0:0.0	.	387;387	E5RHS3;O60284	.;ST18_HUMAN	C	387	ENSP00000276480:R387C;ENSP00000428521:R387C	ENSP00000276480:R387C	R	-	1	0	ST18	53242010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.518000	0.60510	2.609000	0.88269	0.563000	0.77884	CGC		0.562	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			13	108	0	0	0	1	0	13	108				
THSD7A	221981	broad.mit.edu	37	7	11676141	11676141	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:11676141C>T	ENST00000423059.4	-	2	889	c.638G>A	c.(637-639)gGg>gAg	p.G213E	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	213	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTGGAGCCCGCTGCCGCA	0.607										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(637-639)gGg>gAg		thrombospondin, type I, domain containing 7A							33.0	34.0	34.0					7																	11676141		1999	4168	6167	SO:0001583	missense	221981					integral to membrane		g.chr7:11676141C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.638G>A	7.37:g.11676141C>T	ENSP00000406482:p.Gly213Glu	HNSCC(18;0.044)					p.G213E	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	889	-			213			TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.638G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157938	0.78114	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	D	0.83673	-1.75	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94548	0.8244	H	0.96916	3.905	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.95684	0.8734	10	0.87932	D	0	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	213	Q9UPZ6	THS7A_HUMAN	E	213	ENSP00000406482:G213E	ENSP00000262042:G213E	G	-	2	0	THSD7A	11642666	1.000000	0.71417	0.958000	0.39756	0.392000	0.30506	6.030000	0.70903	2.810000	0.96702	0.585000	0.79938	GGG		0.607	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		23	19	0	0	0	1	0	23	19				
COG3	83548	broad.mit.edu	37	13	46050413	46050413	+	Silent	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr13:46050413A>G	ENST00000349995.5	+	2	364	c.252A>G	c.(250-252)acA>acG	p.T84T		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	84					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGAATCTACAGAAGACATTC	0.408																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(250-252)acA>acG		component of oligomeric golgi complex 3							103.0	98.0	100.0					13																	46050413		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46050413A>G	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.252A>G	13.37:g.46050413A>G							p.T84T	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	2	364	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	84					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.252A>G	CCDS9398.1																																																																																				0.408	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			3	32	0	0	0	1	0	3	32				
BTBD1	53339	broad.mit.edu	37	15	83710528	83710528	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr15:83710528G>A	ENST00000261721.4	-	4	1016	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	272					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTAAGGAAAGTGCTTTTCCT	0.388																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(814-816)Ctt>Ttt		BTB (POZ) domain containing 1							117.0	118.0	117.0					15																	83710528		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83710528G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.814C>T	15.37:g.83710528G>A	ENSP00000261721:p.Leu272Phe					RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA	p.L272F	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	4	1016	-			272					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.814C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971865	0.74246	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.77489	-1.1;-1.1	5.62	5.62	0.85841	BTB/Kelch-associated (2);	0.061448	0.64402	D	0.000003	T	0.81341	0.4802	L	0.53561	1.675	0.80722	D	1	B;B	0.29481	0.179;0.245	B;B	0.41202	0.33;0.35	T	0.79502	-0.1777	10	0.56958	D	0.05	-21.3219	19.6517	0.95819	0.0:0.0:1.0:0.0	.	272;272	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	F	272	ENSP00000261721:L272F;ENSP00000368713:L272F	ENSP00000261721:L272F	L	-	1	0	BTBD1	81501532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.768000	0.85345	2.662000	0.90505	0.655000	0.94253	CTT		0.388	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			23	93	0	0	0	1	0	23	93				
SF3B3	23450	broad.mit.edu	37	16	70569246	70569246	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:70569246A>T	ENST00000302516.5	+	6	959	c.748A>T	c.(748-750)Atc>Ttc	p.I250F	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	250					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAGTACTGATCTGCTCTGA	0.418																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(748-750)Atc>Ttc		splicing factor 3b, subunit 3, 130kDa							212.0	217.0	215.0					16																	70569246		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70569246A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.748A>T	16.37:g.70569246A>T	ENSP00000305790:p.Ile250Phe						p.I250F	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			6	959	+		Ovarian(137;0.0694)	250					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.748A>T	CCDS10894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.764754|4.764754	0.90020|0.90020	.|.	.|.	ENSG00000189091|ENSG00000189091	ENST00000310750|ENST00000302516	.|T	.|0.51817	.|0.69	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60907	.|0.2305	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|P	.|0.40553	.|0.721	.|P	.|0.52267	.|0.694	.|T	.|0.65541	.|-0.6143	.|10	.|0.87932	.|D	.|0	.|.	14.4039|14.4039	0.67068|0.67068	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250	.|Q15393	.|SF3B3_HUMAN	.|F	-1|250	.|ENSP00000305790:I250F	.|ENSP00000305790:I250F	.|I	+|+	.|1	.|0	SF3B3|SF3B3	69126747|69126747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	1.813000|1.813000	0.52934|0.52934	0.397000|0.397000	0.26171|0.26171	.|ATC		0.418	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	190	0	0	0	1	0	6	190				
AFG3L2	10939	broad.mit.edu	37	18	12360038	12360038	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr18:12360038A>G	ENST00000269143.3	-	7	871	c.640T>C	c.(640-642)Ttt>Ctt	p.F214L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	214					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCAATATTAAACCAAACGTAT	0.353																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(640-642)Ttt>Ctt		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						80.0	74.0	76.0					18																	12360038		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12360038A>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.640T>C	18.37:g.12360038A>G	ENSP00000269143:p.Phe214Leu						p.F214L	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			7	871	-			214					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.640T>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935785	0.92458	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.77098	-1.07	4.87	4.87	0.63330	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91681	0.5358	10	0.62326	D	0.03	.	14.7671	0.69648	1.0:0.0:0.0:0.0	.	214	Q9Y4W6	AFG32_HUMAN	L	214;229	ENSP00000269143:F214L	ENSP00000269143:F214L	F	-	1	0	AFG3L2	12350038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.949000	0.56562	0.533000	0.62120	TTT		0.353	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		10	39	0	0	0	1	0	10	39				
NT5DC2	64943	broad.mit.edu	37	3	52559262	52559262	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:52559262A>T	ENST00000307076.4	-	11	1458	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E	NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	353							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGTAGAGCACGCGGGGGCC	0.652																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1057-1059)gTg>gAg		5'-nucleotidase domain containing 2							48.0	44.0	45.0					3																	52559262		2200	4299	6499	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52559262A>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1058T>A	3.37:g.52559262A>T	ENSP00000302468:p.Val353Glu					NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E	p.V353E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	11	1458	-			353					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1058T>A	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276368	0.95459	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.13	5.13	0.70059	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.75150	-0.3419	10	0.87932	D	0	-34.195	14.9313	0.70916	1.0:0.0:0.0:0.0	.	365;353;390	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	E	294;67;353;390;365	ENSP00000306017:V294E;ENSP00000418780:V67E;ENSP00000302468:V353E;ENSP00000406933:V390E;ENSP00000419547:V365E	ENSP00000302468:V353E	V	-	2	0	NT5DC2	52534302	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.306000	0.96204	1.933000	0.56026	0.402000	0.26972	GTG		0.652	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		4	28	0	0	0	1	0	4	28				
VPS13B	157680	broad.mit.edu	37	8	100789020	100789020	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:100789020G>C	ENST00000358544.2	+	41	7451	c.7340G>C	c.(7339-7341)gGt>gCt	p.G2447A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2447					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGAGTCTGGTTCTCAAAGC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7339-7341)gGt>gCt		vacuolar protein sorting 13 homolog B (yeast)							163.0	140.0	148.0					8																	100789020		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789020G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7340G>C	8.37:g.100789020G>C	ENSP00000351346:p.Gly2447Ala					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A	p.G2447A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7451	+	Breast(36;3.73e-07)		2447					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7340G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168571	0.78339	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.984;0.997	T	0.80023	-0.1556	10	0.56958	D	0.05	.	19.4449	0.94843	0.0:0.0:1.0:0.0	.	2422;2447	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2422;2447	ENSP00000349685:G2422A;ENSP00000351346:G2447A	ENSP00000349685:G2422A	G	+	2	0	VPS13B	100858196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.583000	0.87209	0.650000	0.86243	GGT		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		39	45	0	0	0	1	0	39	45				
SEC14L5	9717	broad.mit.edu	37	16	5058605	5058605	+	Missense_Mutation	SNP	C	C	T	rs202231927		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:5058605C>T	ENST00000251170.7	+	14	1936	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	586	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.R586C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGATTACAGCCGTGTGGAGGC	0.652																																						ENST00000251170.7																			1	Substitution - Missense(1)	p.R586C(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1756-1758)Cgt>Tgt		SEC14-like 5 (S. cerevisiae)		C	CYS/ARG	0,3862		0,0,1931	47.0	55.0	53.0		1756	2.8	0.3	16		53	1,8253		0,1,4126	no	missense	SEC14L5	NM_014692.1	180	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	benign	586/697	5058605	1,12115	1931	4127	6058	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058605C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1756C>T	16.37:g.5058605C>T	ENSP00000251170:p.Arg586Cys						p.R586C	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			14	1936	+			586			GOLD.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1756C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983435	0.35036	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.51817	0.69	4.75	2.8	0.32819	GOLD (2);	0.410930	0.21624	N	0.071592	T	0.36054	0.0953	L	0.43701	1.375	0.58432	D	0.999998	B	0.17268	0.021	B	0.13407	0.009	T	0.19353	-1.0308	10	0.59425	D	0.04	-0.1631	6.0497	0.19779	0.1506:0.6928:0.0:0.1566	.	586	O43304	S14L5_HUMAN	C	586	ENSP00000251170:R586C	ENSP00000251170:R586C	R	+	1	0	SEC14L5	4998606	0.994000	0.37717	0.319000	0.25293	0.762000	0.43233	1.482000	0.35486	0.622000	0.30249	0.556000	0.70494	CGT		0.652	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			8	42	0	0	0	1	0	8	42				
FNDC3B	64778	broad.mit.edu	37	3	172096070	172096070	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:172096070A>G	ENST00000336824.4	+	24	3118	c.3019A>G	c.(3019-3021)Atc>Gtc	p.I1007V	FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GTTTATTTCAATCTACAGAGG	0.453																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3019-3021)Atc>Gtc		fibronectin type III domain containing 3B							72.0	68.0	69.0					3																	172096070		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096070A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3019A>G	3.37:g.172096070A>G	ENSP00000338523:p.Ile1007Val					FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V	p.I1007V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3118	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1007			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3019A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625844	0.46840	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56611	0.45;0.45;0.45	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044860	0.85682	D	0.000000	T	0.37183	0.0994	N	0.25144	0.715	0.80722	D	1	B	0.16166	0.016	B	0.25291	0.059	T	0.22556	-1.0213	10	0.02654	T	1	-21.5281	15.3525	0.74399	1.0:0.0:0.0:0.0	.	1007	Q53EP0	FND3B_HUMAN	V	1007	ENSP00000411242:I1007V;ENSP00000338523:I1007V;ENSP00000389094:I1007V	ENSP00000338523:I1007V	I	+	1	0	FNDC3B	173578764	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	5.888000	0.69758	2.028000	0.59812	0.533000	0.62120	ATC		0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		19	23	0	0	0	1	0	19	23				
LAMB4	22798	broad.mit.edu	37	7	107703416	107703416	+	Missense_Mutation	SNP	C	C	T	rs138272045		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:107703416C>T	ENST00000388781.3	-	23	3168	c.3085G>A	c.(3085-3087)Gtg>Atg	p.V1029M	LAMB4_ENST00000205386.4_Missense_Mutation_p.V1029M|LAMB4_ENST00000388780.3_Missense_Mutation_p.V1029M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1029	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGGGACTCACGCCGGAAGCA	0.517																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3085-3087)Gtg>Atg		laminin, beta 4		C	MET/VAL	1,4405		0,1,2202	51.0	47.0	49.0		3085	5.1	0.2	7	dbSNP_134	49	0,8600		0,0,4300	yes	missense	LAMB4	NM_007356.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1029/1762	107703416	1,13005	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107703416C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3085G>A	7.37:g.107703416C>T	ENSP00000373433:p.Val1029Met					LAMB4_ENST00000388780.3_Missense_Mutation_p.V1029M|LAMB4_ENST00000205386.4_Missense_Mutation_p.V1029M	p.V1029M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			23	3168	-			1029			Laminin EGF-like 11.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3085G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433447	0.62955	2.27E-4	0.0	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.12	5.12	0.69794	EGF-like, laminin (3);	0.000000	0.47093	D	0.000251	T	0.71273	0.3320	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72846	-0.4169	10	0.87932	D	0	.	13.4143	0.60959	0.0:0.9248:0.0:0.0752	.	1029	A4D0S4	LAMB4_HUMAN	M	1029;1029;55;1029	ENSP00000205386:V1029M;ENSP00000373433:V1029M;ENSP00000416562:V55M;ENSP00000373432:V1029M	ENSP00000205386:V1029M	V	-	1	0	LAMB4	107490652	0.317000	0.24589	0.183000	0.23137	0.022000	0.10575	1.774000	0.38573	2.820000	0.97059	0.650000	0.86243	GTG		0.517	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		14	16	0	0	0	1	0	14	16				
PCDHB2	56133	broad.mit.edu	37	5	140475876	140475876	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:140475876C>T	ENST00000194155.4	+	1	1650	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.692																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1501-1503)cCc>cTc									62.0	67.0	65.0					5																	140475876		2202	4296	6498	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475876C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1502C>T	5.37:g.140475876C>T	ENSP00000194155:p.Pro501Leu						p.P501L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1650	+			501			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1502C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257818	0.39896	.	.	ENSG00000112852	ENST00000194155	T	0.01665	4.7	4.5	2.59	0.31030	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	L	0.52573	1.65	0.09310	N	1	P	0.47604	0.898	P	0.48770	0.589	T	0.36311	-0.9753	9	0.72032	D	0.01	.	10.6221	0.45487	0.1494:0.7066:0.144:0.0	.	501	Q9Y5E7	PCDB2_HUMAN	L	501	ENSP00000194155:P501L	ENSP00000194155:P501L	P	+	2	0	PCDHB2	140456060	0.000000	0.05858	0.001000	0.08648	0.877000	0.50540	0.025000	0.13577	0.389000	0.25086	0.556000	0.70494	CCC		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		8	122	0	0	0	1	0	8	122				
C16orf59	80178	broad.mit.edu	37	16	2512433	2512433	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:2512433C>T	ENST00000361837.4	+	7	833	c.768C>T	c.(766-768)ccC>ccT	p.P256P	C16orf59_ENST00000569496.1_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P|RP11-715J22.2_ENST00000563775.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Silent_p.P256P	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	256										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGCCCCAGCCCAGGCTCAGTG	0.682																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(766-768)ccC>ccT		chromosome 16 open reading frame 59							21.0	26.0	25.0					16																	2512433		1999	4132	6131	SO:0001819	synonymous_variant	80178							g.chr16:2512433C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.768C>T	16.37:g.2512433C>T						C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P|C16orf59_ENST00000361837.4_Silent_p.P256P	p.P256P			Q7L2K0	CP059_HUMAN			7	827	+		Ovarian(90;0.17)	256					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.768C>T	CCDS10468.2																																																																																				0.682	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		3	22	0	0	0	1	0	3	22				
NELL1	4745	broad.mit.edu	37	11	20949942	20949942	+	Missense_Mutation	SNP	G	G	A	rs370190924		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr11:20949942G>A	ENST00000357134.5	+	9	1066	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R248Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R305Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R333Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	305	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGGAATGCCGAAGGATGTCC	0.517																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(997-999)cGa>cAa		NEL-like 1 (chicken)		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	202.0	161.0	175.0		914,914	5.0	1.0	11		175	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_201551.1,NM_006157.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	305/764,305/811	20949942	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20949942G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.914G>A	11.37:g.20949942G>A	ENSP00000349654:p.Arg305Gln					NELL1_ENST00000532434.1_Missense_Mutation_p.R305Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R248Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R305Q	p.R333Q			Q92832	NELL1_HUMAN			10	1151	+			305					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.998G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364823	0.82463	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.93	5.02	0.67125	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	N	0.13168	0.305	0.50632	D	0.999882	B;B;D;B	0.60160	0.218;0.259;0.987;0.164	B;B;P;B	0.54238	0.016;0.027;0.746;0.027	T	0.66240	-0.5973	10	0.31617	T	0.26	-10.0207	15.0894	0.72180	0.0677:0.0:0.9323:0.0	.	248;333;305;305	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	333;305;248;305	ENSP00000298925:R333Q;ENSP00000349654:R305Q;ENSP00000317837:R248Q;ENSP00000437170:R305Q	ENSP00000298925:R333Q	R	+	2	0	NELL1	20906518	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.736000	0.74811	1.512000	0.48834	0.561000	0.74099	CGA		0.517	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		7	29	0	0	0	1	0	7	29				
KMT2C	58508	broad.mit.edu	37	7	151884803	151884803	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:151884803G>A	ENST00000262189.6	-	32	5008	c.4790C>T	c.(4789-4791)gCc>gTc	p.A1597V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A1597V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1597					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTGTACCTGGCATCAGGATA	0.368																																						ENST00000355193.2																			0											c.(4789-4791)gCc>gTc		lysine (K)-specific methyltransferase 2C							94.0	91.0	92.0					7																	151884803		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151884803G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4790C>T	7.37:g.151884803G>A	ENSP00000262189:p.Ala1597Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V	p.A1597V							32	5008	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4790C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103398	0.37145	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.56	3.66	0.41972	.	0.694548	0.11983	N	0.510547	T	0.65059	0.2655	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.001;0.006	T	0.53718	-0.8399	10	0.26408	T	0.33	.	6.487	0.22095	0.1666:0.1465:0.6869:0.0	.	1597;658	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	1597	ENSP00000262189:A1597V;ENSP00000347325:A1597V	ENSP00000262189:A1597V	A	-	2	0	MLL3	151515736	0.941000	0.31946	0.806000	0.32338	0.968000	0.65278	1.431000	0.34925	0.730000	0.32425	0.643000	0.83706	GCC		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	73	0	0	0	1	0	4	73				
KCNK10	54207	broad.mit.edu	37	14	88707090	88707090	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr14:88707090G>A	ENST00000340700.5	-	3	913	c.462C>T	c.(460-462)ctC>ctT	p.L154L	KCNK10_ENST00000312350.5_Silent_p.L159L|KCNK10_ENST00000319231.5_Silent_p.L159L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	154					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGGCACTGCCGAGGTCCCAGT	0.478																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(460-462)ctC>ctT		potassium channel, subfamily K, member 10							142.0	127.0	132.0					14																	88707090		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88707090G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.462C>T	14.37:g.88707090G>A						KCNK10_ENST00000312350.5_Silent_p.L159L|KCNK10_ENST00000319231.5_Silent_p.L159L	p.L154L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			3	913	-			154					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.462C>T	CCDS9880.1																																																																																				0.478	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		5	100	0	0	0	1	0	5	100				
ACTB	60	broad.mit.edu	37	7	5568828	5568828	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:5568828G>A	ENST00000331789.5	-	3	518	c.327C>T	c.(325-327)ccC>ccT	p.P109P	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	109					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGGTTCAGGGGGGCCTCGG	0.647																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(325-327)ccC>ccT		actin, beta							48.0	53.0	51.0					7																	5568828		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568828G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.327C>T	7.37:g.5568828G>A							p.P109P	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	518	-		Ovarian(82;0.0606)	109					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.327C>T	CCDS5341.1																																																																																				0.647	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		10	38	0	0	0	1	0	10	38				
F11	2160	broad.mit.edu	37	4	187201491	187201491	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr4:187201491G>A	ENST00000403665.2	+	9	1332	c.980G>A	c.(979-981)tGc>tAc	p.C327Y	F11_ENST00000264692.4_Missense_Mutation_p.C275Y	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	327	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCCGTCCGCTGCCAGTTTTTT	0.498																																						ENST00000264692.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(823-825)tGc>tAc		coagulation factor XI	Coagulation Factor IX(DB00100)						123.0	121.0	122.0					4																	187201491		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201491G>A	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.980G>A	4.37:g.187201491G>A	ENSP00000384957:p.Cys327Tyr					F11_ENST00000403665.2_Missense_Mutation_p.C327Y	p.C275Y			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	9	1157	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	327			Apple 3.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.824G>A	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.83|19.83	3.900828|3.900828	0.72754|0.72754	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000452239|ENST00000403665;ENST00000264692	.|D;D	.|0.98512	.|-4.97;-4.97	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99184|0.99184	0.9717|0.9717	M|M	0.89968|0.89968	3.075|3.075	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99368|0.99368	1.0919|1.0919	5|10	.|0.72032	.|D	.|0.01	.|.	19.9413|19.9413	0.97163|0.97163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327	.|P03951	.|FA11_HUMAN	T|Y	143|327;275	.|ENSP00000384957:C327Y;ENSP00000264692:C275Y	.|ENSP00000264692:C275Y	A|C	+|+	1|2	0|0	F11|F11	187438485|187438485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.743000|0.743000	0.42351|0.42351	6.354000|6.354000	0.73036|0.73036	2.779000|2.779000	0.95612|0.95612	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.498	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			12	101	0	0	0	1	0	12	101				
ALDH1B1	219	broad.mit.edu	37	9	38396827	38396827	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr9:38396827A>G	ENST00000377698.3	+	2	1235	c.1082A>G	c.(1081-1083)cAg>cGg	p.Q361R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	361					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CAGGGGCCTCAGGTGGACAAG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1081-1083)cAg>cGg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						60.0	60.0	60.0					9																	38396827		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396827A>G	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1082A>G	9.37:g.38396827A>G	ENSP00000366927:p.Gln361Arg						p.Q361R	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1235	+			361					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1082A>G	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009900	0.75046	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.76316	-1.01	5.67	5.67	0.87782	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000013	D	0.89455	0.6720	M	0.89095	3.005	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	D	0.91305	0.5070	10	0.87932	D	0	.	13.8662	0.63590	1.0:0.0:0.0:0.0	.	361	P30837	AL1B1_HUMAN	R	361;62	ENSP00000366927:Q361R	ENSP00000366927:Q361R	Q	+	2	0	ALDH1B1	38386827	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.985000	0.93487	2.156000	0.67533	0.533000	0.62120	CAG		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			3	39	0	0	0	1	0	3	39				
RAB11FIP1	80223	broad.mit.edu	37	8	37732086	37732086	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:37732086C>T	ENST00000330843.4	-	3	1581	c.1569G>A	c.(1567-1569)ccG>ccA	p.P523P	RAB11FIP1_ENST00000524118.1_Silent_p.P375P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P523P|RAB11FIP1_ENST00000522727.1_Silent_p.P375P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	523					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.P523P(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTGGAGGTCTCGGTTCAGACT	0.552																																						ENST00000330843.4																			1	Substitution - coding silent(1)	p.P523P(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1567-1569)ccG>ccA		RAB11 family interacting protein 1 (class I)							72.0	71.0	72.0					8																	37732086		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732086C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1569G>A	8.37:g.37732086C>T						RAB11FIP1_ENST00000287263.4_Silent_p.P523P|RAB11FIP1_ENST00000522727.1_Silent_p.P375P|RAB11FIP1_ENST00000524118.1_Silent_p.P375P	p.P523P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1581	-		Lung NSC(58;0.118)|all_lung(54;0.195)	523					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1569G>A	CCDS34882.1																																																																																				0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		4	22	0	0	0	1	0	4	22				
NAGA	4668	broad.mit.edu	37	22	42461779	42461779	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr22:42461779G>A	ENST00000396398.3	-	6	1254	c.722C>T	c.(721-723)cCa>cTa	p.P241L	NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	241					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCCGGCCACTGGCTGCAGTAT	0.597																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(721-723)cCa>cTa		N-acetylgalactosaminidase, alpha-							96.0	71.0	80.0					22																	42461779		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42461779G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.722C>T	22.37:g.42461779G>A	ENSP00000379680:p.Pro241Leu					NAGA_ENST00000403363.1_Missense_Mutation_p.P241L|NAGA_ENST00000402937.1_Missense_Mutation_p.P241L	p.P241L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN			6	1254	-			241						Missense_Mutation	SNP	ENST00000396398.3	37	c.722C>T	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003431	0.74932	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.82984	-1.67;-1.67;-1.67	5.09	5.09	0.68999	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	M	0.89534	3.04	0.80722	D	1	B	0.19817	0.039	B	0.22601	0.04	D	0.86160	0.1593	10	0.59425	D	0.04	-12.3572	18.5035	0.90890	0.0:0.0:1.0:0.0	.	241	P17050	NAGAB_HUMAN	L	241	ENSP00000379680:P241L;ENSP00000385283:P241L;ENSP00000384603:P241L	ENSP00000379680:P241L	P	-	2	0	NAGA	40791725	1.000000	0.71417	0.989000	0.46669	0.888000	0.51559	7.979000	0.88103	2.376000	0.81061	0.563000	0.77884	CCA		0.597	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			4	37	0	0	0	1	0	4	37				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		4	42	0	0	0	1	0	4	42				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	50	0	0	0	1	0	4	50				
LMBR1	64327	broad.mit.edu	37	7	156554869	156554869	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:156554869G>A	ENST00000353442.5	-	8	879	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	LMBR1_ENST00000540390.1_Missense_Mutation_p.R194C|LMBR1_ENST00000354505.4_Missense_Mutation_p.R215C|LMBR1_ENST00000359422.4_Missense_Mutation_p.R63C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	215					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.R215S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGAACATACGAGAAAGGCCA	0.338																																						ENST00000353442.4																			1	Substitution - Missense(1)	p.R215S(1)	lung(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(643-645)Cgt>Tgt		limb development membrane protein 1							82.0	77.0	79.0					7																	156554869		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156554869G>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.643C>T	7.37:g.156554869G>A	ENSP00000326604:p.Arg215Cys					LMBR1_ENST00000359422.4_Missense_Mutation_p.R63C|LMBR1_ENST00000540390.1_Missense_Mutation_p.R194C|LMBR1_ENST00000354505.4_Missense_Mutation_p.R215C	p.R215C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	8	879	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	215					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.643C>T	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340110	0.81911	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.79	4.79	0.61399	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.984;0.998	T	0.63752	-0.6566	10	0.87932	D	0	-7.232	18.2153	0.89884	0.0:0.0:1.0:0.0	.	194;215;215	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	C	215;63;213;215;194	ENSP00000326604:R215C;ENSP00000352392:R63C;ENSP00000408256:R213C;ENSP00000346500:R215C;ENSP00000445509:R194C	ENSP00000326604:R215C	R	-	1	0	LMBR1	156247630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.379000	0.66196	2.350000	0.79820	0.591000	0.81541	CGT		0.338	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		10	76	0	0	0	1	0	10	76				
CACNA1S	779	broad.mit.edu	37	1	201046060	201046060	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046060G>A	ENST00000362061.3	-	12	2041	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	CACNA1S_ENST00000367338.3_Silent_p.I605I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	605					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)	ggaagacgctgatgagggCTT	0.542																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1813-1815)atC>atT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						180.0	154.0	163.0					1																	201046060		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046060G>A	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.1815C>T	1.37:g.201046060G>A						CACNA1S_ENST00000367338.3_Silent_p.I605I	p.I605I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	2041	-			605					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1815C>T	CCDS1407.1																																																																																				0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		26	34	0	0	0	1	0	26	34				
GRIA1	2890	broad.mit.edu	37	5	153065834	153065834	+	Missense_Mutation	SNP	G	G	A	rs143445023		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:153065834G>A	ENST00000285900.5	+	8	1422	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	GRIA1_ENST00000340592.5_Missense_Mutation_p.R360H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R370H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R280H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R370H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R291H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	360					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAGAAAGGACGCCGGACCAAC	0.468																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1078-1080)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	152.0	137.0	142.0		1079,1079	5.2	1.0	5	dbSNP_134	142	0,8600		0,0,4300	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	360/907,360/907	153065834	2,13004	2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153065834G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1079G>A	5.37:g.153065834G>A	ENSP00000285900:p.Arg360His					GRIA1_ENST00000340592.5_Missense_Mutation_p.R360H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R280H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R291H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R370H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R370H	p.R360H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1422	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	360					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1079G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656684	0.67586	4.54E-4	0.0	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.26363	0.028;0.028;0.147;0.028;0.009;0.038	B;B;B;B;B;B	0.29353	0.011;0.011;0.101;0.011;0.004;0.026	T	0.75847	-0.3173	10	0.48119	T	0.1	.	17.7586	0.88457	0.0:0.0:1.0:0.0	.	370;370;280;370;360;360	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	360;360;280;314;360;291;291;370;370	ENSP00000285900:R360H;ENSP00000427920:R280H;ENSP00000339343:R360H;ENSP00000427864:R291H;ENSP00000442108:R291H;ENSP00000428994:R370H;ENSP00000415569:R370H	ENSP00000285900:R360H	R	+	2	0	GRIA1	153046027	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.589000	0.53972	2.432000	0.82394	0.655000	0.94253	CGC		0.468	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			13	69	0	0	0	1	0	13	69				
GCN1L1	10985	broad.mit.edu	37	12	120621408	120621408	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:120621408C>T	ENST00000300648.6	-	5	402	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	130					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTGGCTCTCGATGGAAAGA	0.542																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(388-390)tcG>tcA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							99.0	102.0	101.0					12																	120621408		2115	4253	6368	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120621408C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.390G>A	12.37:g.120621408C>T							p.S130S	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			5	402	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		130					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.390G>A	CCDS41847.1																																																																																				0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	56	0	0	0	1	0	4	56				
CROCCP2	84809	broad.mit.edu	37	1	16946501	16946501	+	lincRNA	DEL	G	G	-			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:16946501delG	ENST00000412962.1	-	0	1018				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCGGCCTCCAGCTCCCGCCAT	0.667																																						ENST00000412962.1																			0																																																			0							g.chr1:16946501delG	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946501delG														0	1018	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	5						3	5	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	5						4	5	---	---	---	---
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328|rs561001430|rs72704847|rs527966074|rs200495953	byFrequency	TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000295367.4	+	2	352_375	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)ccaggctacaccaaggtccctgaadel	p.PGYTKVPE104del	SPRR3_ENST00000331860.3_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567														567	0.113219	0.1082	0.062	5008	,	,		23905	0.1528		0.1133	False		,,,				2504	0.1155					ENST00000331860.3																			1	Substitution - Missense(1)	p.Y106C(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(310-333)del		small proline-rich protein 3			,	1170,3096		431,308,1394					,	3.4	0.4		dbSNP_130	84	2304,5950		748,808,2571	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1179,1116,3965	A1A1,A1R,RR		27.9137,27.4262,27.7476	,	,		3474,9046				SO:0001651	inframe_deletion	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.310_333delCCAGGCTACACCAAGGTCCCTGAA	1.37:g.152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENSP00000295367:p.Pro104_Glu111del					SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	p.PGYTKVPE104del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	460_483	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		104		Missing.	14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	37	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	CCDS1033.1																																																																																				0.567	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		9	57						9	57	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735834	158735834	+	Silent	SNP	C	C	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:158735834C>A	ENST00000335094.2	-	1	658	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCAGAGGATCAGCAGGAAGG	0.498																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(637-639)ctG>ctT		olfactory receptor, family 6, subfamily N, member 1							118.0	120.0	119.0					1																	158735834		2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735834C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.639G>T	1.37:g.158735834C>A							p.L213L	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	658	-	all_hematologic(112;0.0378)		213					Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.639G>T	CCDS30905.1																																																																																				0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		7	108	1	0	0.248553	1	0.248553	7	108				
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		4	5						4	5	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		5	6						5	6	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		31	66						31	66	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	34						7	34	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		7	80						7	80	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5096766	5096766	+	5'Flank	DEL	A	A	-			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:5096766delA	ENST00000575779.1	-	0	0				RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						tcaaaaaaataaaaaaaaaaa	0.507																																						ENST00000571689.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:5096766delA	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059		17.37:g.5096766delA	Exception_encountered					RP11-333E1.1_ENST00000575601.1_RNA		NR_034082.1						0	60	+								Q6RFS0	RNA	DEL	ENST00000575779.1	37		CCDS42241.1																																																																																				0.507	ZNF594-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255082.2	XM_290737		2	4						2	4	---	---	---	---
TTC25	83538	broad.mit.edu	37	17	40104559	40104560	+	RNA	INS	-	-	A	rs61095073|rs11369140		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:40104559_40104560insA	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				accctcactccaaaaaaaaaaa	0.416																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25																																						83538					cytoplasm	protein binding	g.chr17:40104559_40104560insA	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40104570_40104570dupA										Q96NG3	TTC25_HUMAN			0	1213	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	INS	ENST00000591658.1	37																																																																																						0.416	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		4	7						4	7	---	---	---	---
