#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
SYTL2	54843	broad.mit.edu	37	11	85436918	85436918	+	Intron	SNP	A	A	G			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:85436918A>G	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Silent_p.L194L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Silent_p.L718L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L194L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTTGGTTCAAGCACTTGTT	0.403																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2152-2154)ctT>ctC		synaptotagmin-like 2							126.0	117.0	120.0					11																	85436918		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85436918A>G	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2020T>C	11.37:g.85436918A>G						SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Silent_p.L194L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L194L	p.L718L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	2153	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	231	I -> V (in Ref. 4; BAB15030).		C2 1.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.2154T>C	CCDS53688.1																																																																																				0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	84	0	0	0	1	0	9	84				
SIGLEC16	400709	broad.mit.edu	37	19	50475259	50475259	+	RNA	SNP	G	G	C	rs12463036	byFrequency	TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr19:50475259G>C	ENST00000602139.1	+	0	1205							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)			endometrium(2)|kidney(2)|lung(6)	10						TGGGGTCCTGGAGCTGCCTCG	0.672													G|||	976	0.194888	0.1717	0.1571	5008	,	,		14776	0.3304		0.1789	False		,,,				2504	0.1299					ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50475259G>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.50475259G>C														0	1205	+									RNA	SNP	ENST00000602139.1	37			482	0.2206959706959707	97	0.19715447154471544	65	0.17955801104972377	184	0.32167832167832167	136	0.17941952506596306	G	13.09	2.132987	0.37630	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-0.398	0.12418	.	0.405610	0.21602	N	0.071927	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24048	-1.0171	5	0.46703	T	0.11	.	4.0219	0.09670	0.0:0.2653:0.464:0.2708	rs12463036	.	.	.	Q	422;394	.	ENSP00000396157:E422Q	E	+	1	0	SIGLEC16	55167071	0.240000	0.23847	0.127000	0.21898	0.104000	0.19210	0.323000	0.19593	-0.015000	0.14150	0.407000	0.27541	GAG		0.672	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		4	61	0	0	0	1	0	4	61				
NAPSA	9476	broad.mit.edu	37	19	50864374	50864374	+	Silent	SNP	T	T	G			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr19:50864374T>G	ENST00000253719.2	-	5	700	c.492A>C	c.(490-492)tcA>tcC	p.S164S	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	164					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGAAAATCACTGATGCACCCT	0.507																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(490-492)tcA>tcC		napsin A aspartic peptidase							82.0	83.0	83.0					19																	50864374		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864374T>G	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.492A>C	19.37:g.50864374T>G						NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.S164S	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	700	-		all_neural(266;0.057)	164					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.492A>C	CCDS12794.1																																																																																				0.507	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		5	90	0	0	0	1	0	5	90				
OR56A1	120796	broad.mit.edu	37	11	6048549	6048549	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:6048549C>T	ENST00000316650.5	-	1	422	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.507																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(385-387)cGt>cAt		olfactory receptor, family 56, subfamily A, member 1							127.0	105.0	112.0					11																	6048549		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048549C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.386G>A	11.37:g.6048549C>T	ENSP00000321246:p.Arg129His						p.R129H	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	422	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	129					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.386G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043431	0.19748	.	.	ENSG00000180934	ENST00000316650	T	0.77489	-1.1	4.16	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.161506	0.29218	N	0.012783	T	0.80444	0.4624	M	0.92219	3.285	0.22446	N	0.999096	B	0.21520	0.057	B	0.20955	0.032	T	0.74106	-0.3772	10	0.66056	D	0.02	.	9.2606	0.37610	0.0:0.8182:0.0:0.1818	.	129	Q8NGH5	O56A1_HUMAN	H	129	ENSP00000321246:R129H	ENSP00000321246:R129H	R	-	2	0	OR56A1	6005125	0.999000	0.42202	0.978000	0.43139	0.002000	0.02628	3.913000	0.56394	0.511000	0.28236	-0.136000	0.14681	CGT		0.507	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		28	40	0	0	0	1	0	28	40				
GALNT14	79623	broad.mit.edu	37	2	31147110	31147110	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr2:31147110T>A	ENST00000349752.5	-	13	1894	c.1255A>T	c.(1255-1257)Atc>Ttc	p.I419F	GALNT14_ENST00000356174.3_Missense_Mutation_p.I386F|GALNT14_ENST00000324589.5_Missense_Mutation_p.I424F|GALNT14_ENST00000420311.2_Missense_Mutation_p.I384F|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.I399F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	419	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCCTTCTGGATGGAGGACTCC	0.537																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1255-1257)Atc>Ttc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							190.0	177.0	181.0					2																	31147110		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31147110T>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1255A>T	2.37:g.31147110T>A	ENSP00000288988:p.Ile419Phe					GALNT14_ENST00000324589.5_Missense_Mutation_p.I424F|GALNT14_ENST00000406653.1_Missense_Mutation_p.I399F|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.I386F|GALNT14_ENST00000420311.2_Missense_Mutation_p.I384F	p.I419F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			13	1894	-	Acute lymphoblastic leukemia(172;0.155)		419			Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1255A>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	T	8.444	0.851458	0.17034	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;0.03	4.84	2.28	0.28536	Ricin B-related lectin (1);Ricin B lectin (1);	3.021500	0.02703	N	0.111964	T	0.55832	0.1945	L	0.43152	1.355	0.34724	D	0.728994	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0	T	0.55667	-0.8105	10	0.15952	T	0.53	.	4.0759	0.09904	0.3845:0.1076:0.0:0.5079	.	384;386;424;419;399	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	F	419;424;399;386;384;386	ENSP00000288988:I419F;ENSP00000314500:I424F;ENSP00000385435:I399F;ENSP00000348497:I386F;ENSP00000415514:I384F;ENSP00000406399:I386F	ENSP00000314500:I424F	I	-	1	0	GALNT14	31000614	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.684000	0.46951	1.813000	0.52934	0.460000	0.39030	ATC		0.537	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		28	79	0	0	0	1	0	28	79				
PITPNM2	57605	broad.mit.edu	37	12	123472877	123472877	+	Silent	SNP	G	G	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr12:123472877G>A	ENST00000542749.1	-	18	2964	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	PITPNM2_ENST00000320201.4_Silent_p.S967S|PITPNM2_ENST00000392428.1_Silent_p.S688S|PITPNM2_ENST00000280562.5_Silent_p.S961S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	967					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAAGATGCTGGAGTTGTCAT	0.632																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2881-2883)tcC>tcT		phosphatidylinositol transfer protein, membrane-associated 2							133.0	130.0	131.0					12																	123472877		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472877G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2901C>T	12.37:g.123472877G>A						PITPNM2_ENST00000320201.4_Silent_p.S967S|PITPNM2_ENST00000392428.1_Silent_p.S688S|PITPNM2_ENST00000542749.1_Silent_p.S967S	p.S961S			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3088	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2883C>T	CCDS9242.1																																																																																				0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		10	146	0	0	0	1	0	10	146				
ABHD8	79575	broad.mit.edu	37	19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1120-1122)Ccg>Tcg		abhydrolase domain containing 8							59.0	50.0	53.0					19																	17405126		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405126G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1120C>T	19.37:g.17405126G>A	ENSP00000247706:p.Pro374Ser					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P374S	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1359	-			374					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1120C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	ABHD8	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG		0.672	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	35	0	0	0	1	0	3	35				
PIR	8544	broad.mit.edu	37	X	15509287	15509287	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chrX:15509287C>T	ENST00000380421.3	-	2	554	c.94G>A	c.(94-96)Gag>Aag	p.E32K	PIR_ENST00000380420.5_Missense_Mutation_p.E32K|BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	32					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TAGCATACCTCGGGTCTGCCA	0.552																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-96)Gag>Aag		pirin (iron-binding nuclear protein)							153.0	137.0	142.0					X																	15509287		2203	4300	6503	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509287C>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.94G>A	X.37:g.15509287C>T	ENSP00000369786:p.Glu32Lys					BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Missense_Mutation_p.E32K	p.E32K	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			2	554	-	Hepatocellular(33;0.183)		32					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.94G>A	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972468	0.18736	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.41758	0.99;0.99	5.53	4.66	0.58398	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.049909	0.85682	D	0.000000	T	0.29684	0.0741	N	0.25957	0.775	0.80722	D	1	P	0.46706	0.883	B	0.42827	0.399	T	0.02925	-1.1093	10	0.14252	T	0.57	-2.5747	11.3191	0.49410	0.0:0.8212:0.1788:0.0	.	32	O00625	PIR_HUMAN	K	32	ENSP00000369785:E32K;ENSP00000369786:E32K	ENSP00000369785:E32K	E	-	1	0	PIR	15419208	0.991000	0.36638	0.249000	0.24280	0.259000	0.26198	3.830000	0.55768	1.081000	0.41110	0.600000	0.82982	GAG		0.552	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		11	136	0	0	0	1	0	11	136				
NFATC4	4776	broad.mit.edu	37	14	24839190	24839190	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr14:24839190G>A	ENST00000250373.4	+	2	727	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554050.1_Missense_Mutation_p.D196N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D209N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D228N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D184N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D259N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.D184N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D209N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.D209N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D228N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D259N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D184N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.D228N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D126N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	196	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCCTGCGACGAGGTGGA	0.682																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(775-777)Gac>Aac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							24.0	26.0	25.0					14																	24839190		2187	4282	6469	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839190G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.586G>A	14.37:g.24839190G>A	ENSP00000250373:p.Asp196Asn					NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.D228N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D184N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D228N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D209N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D126N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D184N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D196N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D184N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D209N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D209N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D126N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D228N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D259N	p.D259N	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	919	+			196			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.775G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614368	0.87359	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	3.78	3.78	0.43462	.	0.101946	0.40818	N	0.001020	T	0.35451	0.0932	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.994;1.0;0.994;1.0;1.0;0.994;0.994;0.994;0.994;1.0;0.99;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.71656	0.649;0.649;0.974;0.736;0.974;0.974;0.649;0.736;0.736;0.649;0.974;0.548;0.974;0.942	T	0.09773	-1.0659	10	0.54805	T	0.06	-8.7055	13.4819	0.61340	0.0:0.0:1.0:0.0	.	184;184;228;228;209;209;209;259;259;184;228;173;259;196	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	259;259;209;209;209;228;228;228;196;196;196;173;126;126;126;184;126;184;184	ENSP00000388910:D259N;ENSP00000452039:D259N;ENSP00000451224:D209N;ENSP00000450644:D209N;ENSP00000388668:D209N;ENSP00000439350:D228N;ENSP00000452270:D228N;ENSP00000451502:D228N;ENSP00000451151:D196N;ENSP00000250373:D196N;ENSP00000450590:D196N;ENSP00000452352:D173N;ENSP00000452349:D126N;ENSP00000450469:D126N;ENSP00000450733:D126N;ENSP00000451454:D184N;ENSP00000451284:D126N;ENSP00000396788:D184N;ENSP00000450686:D184N	ENSP00000250373:D196N	D	+	1	0	NFATC4	23909030	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	8.754000	0.91642	2.093000	0.63338	0.467000	0.42956	GAC		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		3	32	0	0	0	1	0	3	32				
BRCA1	672	broad.mit.edu	37	17	41246314	41246314	+	Missense_Mutation	SNP	C	C	T	rs397508848		TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr17:41246314C>T	ENST00000357654.3	-	10	1352	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365I|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.V116I|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412I|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412I|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412I|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	412					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V412L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTCCAATACATCAGCTACT	0.383			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		1	Substitution - Missense(1)	p.V412L(1)	lung(1)	NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(346-348)Gta>Ata	Homologous recombination	breast cancer 1, early onset							93.0	89.0	90.0					17																	41246314		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246314C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1234G>A	17.37:g.41246314C>T	ENSP00000350283:p.Val412Ile	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412I|BRCA1_ENST00000357654.3_Missense_Mutation_p.V412I|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365I|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412I	p.V116I	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1373	-		Breast(137;0.000717)	412					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.346G>A	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.420|4.420	0.077637|0.077637	0.08485|0.08485	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.90844	.|-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	4.69|4.69	1.12|1.12	0.20585|0.20585	.|.	.|0.820011	.|0.10800	.|N	.|0.632832	D|D	0.84401|0.84401	0.5464|0.5464	L|L	0.37850|0.37850	1.14|1.14	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.22541	.|0.007;0.007;0.019;0.016;0.071;0.001	.|B;B;B;B;B;B	.|0.26310	.|0.008;0.008;0.016;0.016;0.068;0.009	T|T	0.73717|0.73717	-0.3895|-0.3895	5|10	.|0.59425	.|D	.|0.04	.|.	5.3564|5.3564	0.16063|0.16063	0.0:0.6344:0.1574:0.2083|0.0:0.6344:0.1574:0.2083	.|.	.|412;371;412;412;412;412	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	I|I	277|412;412;412;412;116;412;365;412;386;116;412	.|ENSP00000350283:V412I;ENSP00000326002:V412I;ENSP00000246907:V412I;ENSP00000310938:V116I;ENSP00000418960:V412I;ENSP00000418775:V365I;ENSP00000419274:V412I;ENSP00000419988:V386I;ENSP00000418986:V116I;ENSP00000419103:V412I	.|ENSP00000310938:V116I	M|V	-|-	3|1	0|0	BRCA1|BRCA1	38499840|38499840	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.239000|0.239000	0.18023|0.18023	0.144000|0.144000	0.18951|0.18951	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		9	114	0	0	0	1	0	9	114				
USP49	25862	broad.mit.edu	37	6	41773536	41773536	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr6:41773536C>T	ENST00000394253.3	-	3	1515	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	USP49_ENST00000373010.1_Missense_Mutation_p.D396N|USP49_ENST00000297229.2_Missense_Mutation_p.D396N|USP49_ENST00000373006.1_Missense_Mutation_p.D396N|USP49_ENST00000373009.3_Missense_Mutation_p.D396N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	396	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTGTTGGTCGTAGCCGCGG	0.622																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1186-1188)Gac>Aac		ubiquitin specific peptidase 49							53.0	51.0	52.0					6																	41773536		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773536C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1186G>A	6.37:g.41773536C>T	ENSP00000377797:p.Asp396Asn					USP49_ENST00000373006.1_Missense_Mutation_p.D396N|USP49_ENST00000373010.1_Missense_Mutation_p.D396N|USP49_ENST00000297229.2_Missense_Mutation_p.D396N|USP49_ENST00000373009.3_Missense_Mutation_p.D396N	p.D396N			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1515	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		396					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	C	13.86	2.363947	0.41902	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	N	0.13168	0.305	0.80722	D	1	D	0.56968	0.978	P	0.54372	0.75	T	0.03394	-1.1041	10	0.18276	T	0.48	-23.7779	19.2213	0.93797	0.0:1.0:0.0:0.0	.	396	Q70CQ1-2	.	N	396	ENSP00000377797:D396N;ENSP00000362101:D396N;ENSP00000362100:D396N;ENSP00000362097:D396N;ENSP00000297229:D396N	ENSP00000297229:D396N	D	-	1	0	USP49	41881514	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.818000	0.86416	2.631000	0.89168	0.655000	0.94253	GAC		0.622	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	36	0	0	0	1	0	6	36				
SF3A3	10946	broad.mit.edu	37	1	38444416	38444416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr1:38444416delT	ENST00000373019.4	-	11	1866	c.911delA	c.(910-912)aatfs	p.N304fs	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Frame_Shift_Del_p.N251fs	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	304					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGACTTGGGATTTTTGGCAAA	0.488																																						ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(910-912)atfs		splicing factor 3a, subunit 3, 60kDa							56.0	52.0	54.0					1																	38444416		2203	4295	6498	SO:0001589	frameshift_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38444416delT	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.911delA	1.37:g.38444416delT	ENSP00000362110:p.Asn304fs					SF3A3_ENST00000448721.2_Frame_Shift_Del_p.N251fs|SF3A3_ENST00000489537.1_5'UTR	p.N304fs	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			11	1866	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	304					D3DPT5|Q15460|Q5VT87	Frame_Shift_Del	DEL	ENST00000373019.4	37	c.911delA	CCDS428.1																																																																																				0.488	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		2	4						2	4	---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20077879	20077880	+	In_Frame_Ins	INS	-	-	CGAATTTTA			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr8:20077879_20077880insCGAATTTTA	ENST00000276390.2	+	14	1542_1543	c.1502_1503insCGAATTTTA	c.(1501-1506)agcgaa>agCGAATTTTAcgaa	p.502_503insFYE		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	502					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	AGCACCCTCAGCGAATTTTACC	0.465																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(1501-1503)aga>aCGAATTTTAga		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2																																				SO:0001652	inframe_insertion	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20077879_20077880insCGAATTTTA	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1503_1511dupCGAATTTTA	8.37:g.20077880_20077888dupCGAATTTTA	ENSP00000276390:p.Glu502_Phe503insPheTyrGlu						p.500_501insTNF	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	14	1542_1543	+			500					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	In_Frame_Ins	INS	ENST00000276390.2	37	c.1502_1503insCGAATTTTA	CCDS6014.1																																																																																				0.465	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		11	90						11	90	---	---	---	---
