#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PARK7	11315	broad.mit.edu	37	1	8025453	8025453	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:8025453C>G	ENST00000493678.1	+	3	227	c.160C>G	c.(160-162)Cct>Gct	p.P54A	PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A			Q99497	PARK7_HUMAN	parkinson protein 7	54					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATTTGTCCTGATGCCAG	0.408																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(160-162)Cct>Gct		parkinson protein 7							145.0	144.0	145.0					1																	8025453		2203	4300	6503	SO:0001583	missense	11315				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8025453C>G	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.160C>G	1.37:g.8025453C>G	ENSP00000418770:p.Pro54Ala					PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR	p.P54A			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	3	227	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	54					B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.160C>G	CCDS93.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081794	0.55861	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.62	5.62	0.85841	ThiJ/PfpI (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	N	0.11023	0.085	0.80722	D	1	B	0.25206	0.12	B	0.28385	0.089	T	0.53344	-0.8452	10	0.02654	T	1	.	15.5109	0.75782	0.0:1.0:0.0:0.0	.	54	Q99497	PARK7_HUMAN	A	54	ENSP00000340278:P54A;ENSP00000418770:P54A;ENSP00000366711:P54A;ENSP00000366708:P54A	ENSP00000340278:P54A	P	+	1	0	PARK7	7948040	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.781000	0.62389	2.801000	0.96364	0.650000	0.86243	CCT		0.408	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		15	48	15	48	---	---	---	---
F5	2153	broad.mit.edu	37	1	169489881	169489881	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:169489881C>T	ENST00000367797.3	-	22	6271	c.6070G>A	c.(6070-6072)Gcc>Acc	p.A2024T	F5_ENST00000367796.3_Missense_Mutation_p.A2029T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2024	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATTGTAGAGGCATCTGAATTG	0.323																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6085-6087)Gcc>Acc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						53.0	53.0	53.0					1																	169489881		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489881C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6070G>A	1.37:g.169489881C>T	ENSP00000356771:p.Ala2024Thr					F5_ENST00000367797.3_Missense_Mutation_p.A2024T	p.A2029T			P12259	FA5_HUMAN			22	6286	-	all_hematologic(923;0.208)		2024			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6085G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566960	0.86439	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98280	-4.84;-4.84	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.172376	0.50627	D	0.000114	D	0.98324	0.9444	L	0.50919	1.6	0.29819	N	0.831005	D	0.64830	0.994	D	0.67231	0.95	D	0.99849	1.1069	9	0.72032	D	0.01	-13.11	18.9125	0.92491	0.0:1.0:0.0:0.0	.	2024	P12259	FA5_HUMAN	T	2024;2029	ENSP00000356771:A2024T;ENSP00000356770:A2029T	ENSP00000356770:A2029T	A	-	1	0	F5	167756505	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.864000	0.39469	2.563000	0.86464	0.655000	0.94253	GCC		0.323	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	47	9	47	---	---	---	---
ZNF512	84450	broad.mit.edu	37	2	27822524	27822524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:27822524C>T	ENST00000355467.4	+	4	435	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGAATTTCCTCAGAAGAAGCA	0.418																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(352-354)Cag>Tag		zinc finger protein 512							133.0	128.0	129.0					2																	27822524		2203	4300	6503	SO:0001587	stop_gained	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822524C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.352C>T	2.37:g.27822524C>T	ENSP00000347648:p.Gln118*					RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*	p.Q118*	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN			4	435	+	Acute lymphoblastic leukemia(172;0.155)		118					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Nonsense_Mutation	SNP	ENST00000355467.4	37	c.352C>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130307	0.77549	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371	.	.	.	5.12	5.12	0.69794	.	0.108088	0.41938	D	0.000800	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.185	11.0524	0.47898	0.185:0.815:0.0:0.0	.	.	.	.	X	117;118;117;41	.	ENSP00000347648:Q118X	Q	+	1	0	ZNF512	27676028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.582000	0.46085	2.668000	0.90789	0.655000	0.94253	CAG		0.418	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		10	47	10	47	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32712725	32712725	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:32712725C>A	ENST00000421745.2	+	41	7959	c.7825C>A	c.(7825-7827)Ccc>Acc	p.P2609T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2609					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCTCCCACTGGAAC	0.328																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(7825-7827)Ccc>Acc		baculoviral IAP repeat containing 6							84.0	89.0	88.0					2																	32712725		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32712725C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7825C>A	2.37:g.32712725C>A	ENSP00000393596:p.Pro2609Thr						p.P2609T	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN			41	7959	+	Acute lymphoblastic leukemia(172;0.155)		2609					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.7825C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118119	0.37339	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	5.53	5.53	0.82687	.	0.133773	0.52532	D	0.000079	T	0.58764	0.2145	N	0.12182	0.205	0.45295	D	0.998296	B	0.02656	0.0	B	0.04013	0.001	T	0.56086	-0.8037	10	0.49607	T	0.09	.	14.3312	0.66559	0.1482:0.8517:0.0:0.0	.	2609	Q9NR09	BIRC6_HUMAN	T	2609	ENSP00000393596:P2609T	ENSP00000393596:P2609T	P	+	1	0	BIRC6	32566229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.926000	0.40084	2.597000	0.87782	0.563000	0.77884	CCC		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		25	85	25	85	---	---	---	---
ATIC	471	broad.mit.edu	37	2	216211488	216211488	+	Missense_Mutation	SNP	G	G	A	rs201074610		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:216211488G>A	ENST00000236959.9	+	14	1653	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	ATIC_ENST00000435675.1_Missense_Mutation_p.G442S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	443					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TCAGGTTATCGGCATTGGAGC	0.433			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1324-1326)Ggc>Agc		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						190.0	177.0	181.0					2																	216211488		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211488G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1327G>A	2.37:g.216211488G>A	ENSP00000236959:p.Gly443Ser					ATIC_ENST00000236959.9_Missense_Mutation_p.G443S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S	p.G442S			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1715	+		Renal(323;0.229)	443					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1324G>A	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.823964|5.823964	0.96989|0.96989	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675|ENST00000446622;ENST00000426233	D;D;D|.	0.90069|.	-2.61;-2.61;-2.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	AICAR transformylase domain (1);Cytidine deaminase-like (1);|.	0.044532|.	0.85682|.	D|.	0.000000|.	D|D	0.88654|0.88654	0.6495|0.6495	H|H	0.96015|0.96015	3.755|3.755	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.91002|0.91002	0.4843|0.4843	10|5	0.87932|.	D|.	0|.	-16.6532|-16.6532	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	442;443|.	E9PBU3;P31939|.	.;PUR9_HUMAN|.	S|Q	443;384;442|136;111	ENSP00000236959:G443S;ENSP00000440523:G384S;ENSP00000415935:G442S|.	ENSP00000236959:G443S|.	G|R	+|+	1|2	0|0	ATIC|ATIC	215919733|215919733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.758000|9.758000	0.98927|0.98927	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.433	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		36	139	36	139	---	---	---	---
ARL4C	10123	broad.mit.edu	37	2	235405080	235405080	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:235405080T>A	ENST00000390645.2	-	1	617	c.151A>T	c.(151-153)Aag>Tag	p.K51*	ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	51					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		AGCTTGATCTTCTCGGTGTTG	0.622																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(151-153)Aag>Tag		ADP-ribosylation factor-like 4C							78.0	89.0	85.0					2																	235405080		2083	4221	6304	SO:0001587	stop_gained	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235405080T>A	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.151A>T	2.37:g.235405080T>A	ENSP00000375057:p.Lys51*					ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	p.K51*	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	617	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	51					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Nonsense_Mutation	SNP	ENST00000390645.2	37	c.151A>T	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	T	41	8.948031	0.99014	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	.	.	.	3.9	3.9	0.45041	.	0.107851	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-32.5389	8.4328	0.32769	0.0:0.0:0.1978:0.8022	.	.	.	.	X	51	.	ENSP00000339754:K51X	K	-	1	0	ARL4C	235069819	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.737000	0.62066	1.554000	0.49487	0.374000	0.22700	AAG		0.622	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			14	55	14	55	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193380716	193380716	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr3:193380716C>G	ENST00000392438.3	+	24	2695	c.2461C>G	c.(2461-2463)Ctt>Gtt	p.L821V	OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361510.2_Missense_Mutation_p.L876V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V|OPA1_ENST00000361828.2_Missense_Mutation_p.L839V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	821					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCGGAAGAACCTTGAATCCCG	0.388																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2626-2628)Ctt>Gtt		optic atrophy 1 (autosomal dominant)							94.0	91.0	92.0					3																	193380716		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193380716C>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2461C>G	3.37:g.193380716C>G	ENSP00000376233:p.Leu821Val					OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V	p.L876V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	26	2860	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		821					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2626C>G	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759533	0.89932	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.96856	-3.78;-3.77;-3.73;-3.71;-3.75;-4.15;-2.81	5.85	5.85	0.93711	.	0.119124	0.64402	D	0.000017	D	0.97679	0.9239	M	0.64997	1.995	0.80722	D	1	P;D;P;P;D;P;D;P	0.89917	0.565;0.997;0.565;0.565;1.0;0.565;0.997;0.709	P;D;P;P;D;P;D;P	0.80764	0.541;0.991;0.541;0.463;0.994;0.463;0.991;0.463	D	0.97317	0.9941	10	0.44086	T	0.13	-13.7006	19.1531	0.93496	0.0:1.0:0.0:0.0	.	785;821;803;822;839;858;840;876	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	V	858;821;876;840;839;822;13	ENSP00000354681:L858V;ENSP00000376233:L821V;ENSP00000355324:L876V;ENSP00000355311:L840V;ENSP00000354429:L839V;ENSP00000354781:L822V;ENSP00000398358:L13V	ENSP00000354781:L822V	L	+	1	0	OPA1	194863410	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.398000	0.79919	2.753000	0.94483	0.655000	0.94253	CTT		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		17	59	17	59	---	---	---	---
SLAIN2	57606	broad.mit.edu	37	4	48371866	48371866	+	Splice_Site	SNP	G	G	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:48371866G>T	ENST00000264313.6	+	2	808	c.390G>T	c.(388-390)tgG>tgT	p.W130C	SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	130					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CTTCTTCTAGGCTGTATTCAT	0.373																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(388-390)tgG>tgT		SLAIN motif family, member 2							117.0	109.0	112.0					4																	48371866		1818	4083	5901	SO:0001630	splice_region_variant	57606					centrosome		g.chr4:48371866G>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.390-1G>T	4.37:g.48371866G>T						SLAIN2_ENST00000506375.1_3'UTR	p.W130C	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			2	808	+			130					A8K4P1|Q8N5R3	Splice_Site	SNP	ENST00000264313.6	37	c.390G>T	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333980	0.81801	.	.	ENSG00000109171	ENST00000264313	.	.	.	5.85	5.85	0.93711	.	0.149879	0.48767	U	0.000179	T	0.79753	0.4500	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77747	-0.2472	8	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	130	Q9P270	SLAI2_HUMAN	C	130	.	.	W	+	3	0	SLAIN2	48066623	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.229000	0.95273	2.767000	0.95098	0.563000	0.77884	TGG		0.373	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846	Missense_Mutation	15	57	15	57	---	---	---	---
TIGD2	166815	broad.mit.edu	37	4	90034422	90034422	+	Silent	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:90034422A>G	ENST00000317005.2	+	1	455	c.297A>G	c.(295-297)ggA>ggG	p.G99G	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	99	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CAGTGTCCGGAACGATTTGTG	0.418																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(295-297)ggA>ggG		tigger transposable element derived 2							123.0	123.0	123.0					4																	90034422		2203	4300	6503	SO:0001819	synonymous_variant	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034422A>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.297A>G	4.37:g.90034422A>G							p.G99G	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	455	+		Hepatocellular(203;0.114)	99			HTH CENPB-type.			Silent	SNP	ENST00000317005.2	37	c.297A>G	CCDS3633.1																																																																																				0.418	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		11	118	11	118	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144466687	144466687	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:144466687A>T	ENST00000283131.3	+	18	2810	c.2348A>T	c.(2347-2349)gAa>gTa	p.E783V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	783					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGTTTATTTGAATTACTGGAA	0.328																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2347-2349)gAa>gTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							66.0	72.0	70.0					4																	144466687		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144466687A>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2348A>T	4.37:g.144466687A>T	ENSP00000283131:p.Glu783Val						p.E783V	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			18	2810	+	all_hematologic(180;0.158)		783						Missense_Mutation	SNP	ENST00000283131.3	37	c.2348A>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533946	0.85812	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.92048	-2.96	5.6	5.6	0.85130	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.87547	2.89	0.80722	D	1	B	0.30211	0.273	B	0.34180	0.177	D	0.92867	0.6311	10	0.56958	D	0.05	-7.6886	15.8025	0.78463	1.0:0.0:0.0:0.0	.	783	O60264	SMCA5_HUMAN	V	783;726;726	ENSP00000283131:E783V	ENSP00000283131:E783V	E	+	2	0	SMARCA5	144686137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.419000	0.80179	2.136000	0.66102	0.533000	0.62120	GAA		0.328	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			15	59	15	59	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127710364	127710364	+	Silent	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr5:127710364A>G	ENST00000508053.1	-	21	3026	c.2052T>C	c.(2050-2052)tgT>tgC	p.C684C	FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.C684C			P35556	FBN2_HUMAN	fibrillin 2	684	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTGGGGGACAGTCACAGC	0.502																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(2050-2052)tgT>tgC		fibrillin 2							120.0	103.0	109.0					5																	127710364		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127710364A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2052T>C	5.37:g.127710364A>G						FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C|FBN2_ENST00000511489.1_5'UTR	p.C684C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	21	3026	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	684			EGF-like 10; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.2052T>C	CCDS34222.1																																																																																				0.502	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		24	68	24	68	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35927511	35927511	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr6:35927511T>C	ENST00000490799.1	-	15	2064	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCTTATGCTTTAGGTAGTAA	0.473																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1711-1713)Aag>Gag		solute carrier family 26 (anion exchanger), member 8							160.0	149.0	153.0					6																	35927511		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927511T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1711A>G	6.37:g.35927511T>C	ENSP00000417638:p.Lys571Glu					SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E	p.K571E	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			15	2064	-			571			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1711A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953513	0.73902	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.88741	-2.42;-2.42;-2.42	5.82	5.82	0.92795	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.159936	0.43919	N	0.000514	T	0.77150	0.4088	L	0.39245	1.2	0.09310	N	1	B;B;P	0.42908	0.235;0.009;0.793	B;B;B	0.39258	0.066;0.02;0.295	T	0.74399	-0.3678	10	0.52906	T	0.07	.	12.6177	0.56586	0.0:0.0:0.0:1.0	.	571;466;153	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	E	571;466;571	ENSP00000417638:K571E;ENSP00000378100:K466E;ENSP00000347778:K571E	ENSP00000347778:K571E	K	-	1	0	SLC26A8	36035489	0.898000	0.30612	0.016000	0.15963	0.958000	0.62258	4.413000	0.59795	2.231000	0.72958	0.529000	0.55759	AAG		0.473	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			22	100	22	100	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70252229	70252229	+	Silent	SNP	C	C	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:70252229C>A	ENST00000342771.4	+	18	2664	c.2343C>A	c.(2341-2343)ccC>ccA	p.P781P	AUTS2_ENST00000406775.2_Silent_p.P757P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	781										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGATGGCCCCAGTGTGCAGA	0.532																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(2341-2343)ccC>ccA		autism susceptibility candidate 2							61.0	49.0	53.0					7																	70252229		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70252229C>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2343C>A	7.37:g.70252229C>A						AUTS2_ENST00000406775.2_Silent_p.P757P	p.P781P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	18	2664	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	781					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.2343C>A	CCDS5539.1																																																																																				0.532	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			13	37	13	37	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103180802	103180802	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:103180802A>G	ENST00000428762.1	-	44	6931	c.6772T>C	c.(6772-6774)Tgg>Cgg	p.W2258R	RELN_ENST00000343529.5_Missense_Mutation_p.W2258R|RELN_ENST00000424685.2_Missense_Mutation_p.W2258R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2258					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAGACTCCACGAGAGGCCA	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6772-6774)Tgg>Cgg		reelin							105.0	103.0	104.0					7																	103180802		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180802A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6772T>C	7.37:g.103180802A>G	ENSP00000392423:p.Trp2258Arg					RELN_ENST00000428762.1_Missense_Mutation_p.W2258R|RELN_ENST00000343529.5_Missense_Mutation_p.W2258R	p.W2258R			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6931	-			2258					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6772T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975508	0.74360	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.66099	-0.19;-0.19;-0.19	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.84048	0.0368	10	0.87932	D	0	.	15.7924	0.78376	1.0:0.0:0.0:0.0	.	2258;2258	P78509-2;P78509	.;RELN_HUMAN	R	2258	ENSP00000392423:W2258R;ENSP00000345694:W2258R;ENSP00000388446:W2258R	ENSP00000345694:W2258R	W	-	1	0	RELN	102968038	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	8.678000	0.91211	2.194000	0.70268	0.533000	0.62120	TGG		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		21	102	21	102	---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105660967	105660967	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:105660967C>T	ENST00000317716.9	+	13	1882	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.S601F	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCCCAGATCTTTCCGTTAT	0.493																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1801-1803)tCt>tTt		cadherin-related family member 3							141.0	124.0	129.0					7																	105660967		1890	4111	6001	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660967C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1802C>T	7.37:g.105660967C>T	ENSP00000325954:p.Ser601Phe					CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000470188.1_Intron	p.S601F			Q6ZTQ4	CDHR3_HUMAN			13	1910	+			601			Cadherin 6.		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1802C>T	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.74|17.74	3.464765|3.464765	0.63513|0.63513	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000468477|ENST00000542731;ENST00000317716;ENST00000478080	.|T;T;T	.|0.59502	.|0.26;0.26;1.14	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Cadherin (2);Cadherin-like (1);	.|0.345821	.|0.28742	.|N	.|0.014299	T|T	0.74749|0.74749	0.3757|0.3757	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.71184	.|0.956;0.972	T|T	0.76812|0.76812	-0.2821|-0.2821	5|10	.|0.87932	.|D	.|0	-13.6952|-13.6952	17.6826|17.6826	0.88248|0.88248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;601	.|B3KYA0;Q6ZTQ4	.|.;CDHR3_HUMAN	F|F	70|601;601;513	.|ENSP00000439766:S601F;ENSP00000325954:S601F;ENSP00000417771:S513F	.|ENSP00000325954:S601F	L|S	+|+	1|2	0|0	CDHR3|CDHR3	105448203|105448203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.500000|0.500000	0.33767|0.33767	5.359000|5.359000	0.66074|0.66074	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.493	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		19	61	19	61	---	---	---	---
TSPAN12	23554	broad.mit.edu	37	7	120455842	120455842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:120455842G>A	ENST00000222747.3	-	5	908	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	101			L -> H (in EVR5). {ECO:0000269|PubMed:20159112}.		angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AAAATGACAAGCAAACTTCCA	0.343																																						ENST00000222747.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(301-303)Ctt>Ttt		tetraspanin 12							73.0	65.0	68.0					7																	120455842		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120455842G>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.301C>T	7.37:g.120455842G>A	ENSP00000222747:p.Leu101Phe					TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	p.L101F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			5	908	-	all_neural(327;0.117)		101		L -> H (in EVR5).			A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.301C>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915768	0.52546	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.25	5.25	0.73442	.	0.134534	0.51477	D	0.000092	T	0.81250	0.4783	L	0.49699	1.58	0.45899	D	0.998744	P	0.36438	0.553	P	0.46629	0.522	T	0.80034	-0.1551	10	0.42905	T	0.14	-18.5744	12.5588	0.56269	0.0765:0.0:0.9235:0.0	.	101	O95859	TSN12_HUMAN	F	101	ENSP00000222747:L101F;ENSP00000397699:L101F;ENSP00000411158:L101F;ENSP00000399059:L101F;ENSP00000404942:L101F	ENSP00000222747:L101F	L	-	1	0	TSPAN12	120243078	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.670000	0.61583	2.626000	0.88956	0.585000	0.79938	CTT		0.343	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		4	34	4	34	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139285234	139285234	+	Silent	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:139285234G>A	ENST00000406875.3	-	11	2458	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	788	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCATCACGTGGGCCACACCCA	0.567																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2362-2364)gcC>gcT		homeodomain interacting protein kinase 2							96.0	101.0	99.0					7																	139285234		2154	4240	6394	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285234G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2364C>T	7.37:g.139285234G>A						HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A	p.A788A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2458	-	Melanoma(164;0.205)		788			Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2364C>T																																																																																					0.567	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		14	56	14	56	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	408505	408505	+	Silent	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:408505G>A	ENST00000280886.6	-	22	2806	c.2719C>T	c.(2719-2721)Ctg>Ttg	p.L907L	DIP2C_ENST00000540204.1_Silent_p.L228L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	907						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGGGGTGCAGAGAGCCCTCC	0.537																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2719-2721)Ctg>Ttg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							92.0	89.0	90.0					10																	408505		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:408505G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2719C>T	10.37:g.408505G>A						DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.L228L	p.L907L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	22	2806	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	907					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.2719C>T	CCDS7054.1																																																																																				0.537	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		11	48	11	48	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135015083	135015083	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:135015083A>G	ENST00000304613.3	+	17	3089	c.3068A>G	c.(3067-3069)gAc>gGc	p.D1023G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G|KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1023					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTGGACTCGGACGCACTGTCA	0.622																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3067-3069)gAc>gGc		kinase non-catalytic C-lobe domain (KIND) containing 1							58.0	67.0	64.0					10																	135015083		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015083A>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3068A>G	10.37:g.135015083A>G	ENSP00000304437:p.Asp1023Gly					KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G|KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G	p.D1023G			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3089	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1023					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3068A>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631932	0.46944	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11385	2.78;2.78;2.78	4.76	2.34	0.29019	.	0.871297	0.09870	N	0.745097	T	0.10380	0.0254	L	0.60455	1.87	0.09310	N	1	P;B;B	0.46220	0.874;0.006;0.026	B;B;B	0.40477	0.33;0.008;0.018	T	0.30060	-0.9991	10	0.45353	T	0.12	-7.9392	1.4676	0.02409	0.5401:0.1846:0.0978:0.1776	.	1023;958;1023	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	G	1023;1025;958	ENSP00000304437:D1023G;ENSP00000357561:D1025G;ENSP00000357560:D958G	ENSP00000304437:D1023G	D	+	2	0	KNDC1	134865073	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.308000	0.19314	0.749000	0.32854	0.260000	0.18958	GAC		0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		16	74	16	74	---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52863587	52863587	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:52863587C>T	ENST00000252250.6	-	7	1338	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	431	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGGCATCCTCCAGCCCTTCC	0.597																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1291-1293)Gag>Aag		keratin 6C							79.0	62.0	68.0					12																	52863587		2203	4293	6496	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863587C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1291G>A	12.37:g.52863587C>T	ENSP00000252250:p.Glu431Lys						p.E431K	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1338	-			431			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1291G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071524	0.93950	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.92099	-2.97	3.77	3.77	0.43336	Filament (1);	0.000000	0.64402	D	0.000014	D	0.94722	0.8297	M	0.91406	3.205	0.54753	D	0.999984	P	0.35600	0.511	B	0.42882	0.401	D	0.96132	0.9093	10	0.66056	D	0.02	.	16.1348	0.81476	0.0:1.0:0.0:0.0	.	431	P48668	K2C6C_HUMAN	K	431;416	ENSP00000252250:E431K	ENSP00000252250:E431K	E	-	1	0	KRT6C	51149854	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.380000	0.79704	2.090000	0.63153	0.448000	0.29417	GAG		0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		18	66	18	66	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34137219	34137219	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:34137219A>G	ENST00000389232.4	+	93	13523	c.13453A>G	c.(13453-13455)Acc>Gcc	p.T4485A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4485					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCATCCATACCATCATCTC	0.498																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13453-13455)Acc>Gcc		ryanodine receptor 3							140.0	140.0	140.0					15																	34137219		2056	4205	6261	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137219A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13453A>G	15.37:g.34137219A>G	ENSP00000373884:p.Thr4485Ala					RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	p.T4485A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13523	+		all_lung(180;7.18e-09)	4485					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13453A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.788068	0.49997	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94723	-3.5	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.64080	1.96	0.58432	D	0.999995	B;P	0.44946	0.3;0.846	B;P	0.57244	0.107;0.816	D	0.95310	0.8411	10	0.41790	T	0.15	.	15.5966	0.76587	1.0:0.0:0.0:0.0	.	4480;4485	Q15413-2;Q15413	.;RYR3_HUMAN	A	4485;4481	ENSP00000373884:T4485A	ENSP00000354735:T4481A	T	+	1	0	RYR3	31924511	1.000000	0.71417	0.994000	0.49952	0.251000	0.25915	9.029000	0.93718	2.326000	0.78906	0.533000	0.62120	ACC		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	66	13	66	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73029880	73029880	+	Silent	SNP	G	G	A	rs369958857		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:73029880G>A	ENST00000268057.4	+	16	1553	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	BBS4_ENST00000542334.1_Silent_p.A332A|BBS4_ENST00000395205.2_Silent_p.A512A|BBS4_ENST00000539603.1_Silent_p.A492A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	504	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CAGAGCCTGCGGTGGAATCAA	0.443									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1510-1512)gcG>gcA		Bardet-Biedl syndrome 4		G		1,4395	2.1+/-5.4	0,1,2197	48.0	47.0	47.0		1512	-7.6	0.0	15		47	0,8594		0,0,4297	no	coding-synonymous	BBS4	NM_033028.3		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		504/520	73029880	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029880G>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1512G>A	15.37:g.73029880G>A						BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A|BBS4_ENST00000395205.2_Silent_p.A512A	p.A504A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			16	1553	+			504			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	ENST00000268057.4	37	c.1512G>A	CCDS10246.1																																																																																				0.443	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		5	15	5	15	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	314964	314964	+	Silent	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:314964C>T	ENST00000399932.3	+	13	2053	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	534						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTGGGCCAGACAGTGACCAAG	0.652																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1600-1602)gaC>gaT		integrin alpha FG-GAP repeat containing 3							44.0	55.0	51.0					16																	314964		2130	4226	6356	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:314964C>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1602C>T	16.37:g.314964C>T						ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron	p.D534D	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN			13	2053	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	534					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.1602C>T	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.161177	0.01673	.	.	ENSG00000167930	ENST00000424016	.	.	.	5.01	-3.89	0.04193	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	-17.144	10.313	0.43721	0.2453:0.2737:0.481:0.0	.	.	.	.	I	174	.	.	T	+	2	0	ITFG3	254965	0.004000	0.15560	0.006000	0.13384	0.131000	0.20780	-0.514000	0.06298	-0.155000	0.11098	0.561000	0.74099	ACA		0.652	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		14	61	14	61	---	---	---	---
C16orf82	162083	broad.mit.edu	37	16	27078584	27078584	+	lincRNA	SNP	G	G	A	rs376890534		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:27078584G>A	ENST00000505035.1	+	0	557				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CCTGAGCAGCGGGTACGCAGG	0.642																																						ENST00000505035.1																			0															G	ARG/GLY	0,4384		0,0,2192	20.0	28.0	25.0		268	4.5	1.0	16		25	1,8579		0,1,4289	no	missense	C16orf82	NM_001145545.1	125	0,1,6481	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	90/155	27078584	1,12963	2192	4290	6482			162083							g.chr16:27078584G>A	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078584G>A						RP11-673P17.2_ENST00000565783.1_RNA				Q7Z2V1	TNT_HUMAN			0	557	+								B9EGC2|Q8NEF0	RNA	SNP	ENST00000505035.1	37																																																																																						0.642	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545		14	15	14	15	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50217248	50217248	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr22:50217248C>T	ENST00000216267.8	-	1	1204	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	240					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGTGCACGGCCAGGTTGCAC	0.657																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(718-720)Gcc>Acc		bromodomain containing 1							45.0	38.0	40.0					22																	50217248		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217248C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.718G>A	22.37:g.50217248C>T	ENSP00000216267:p.Ala240Thr					BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T	p.A240T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1204	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	240					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.718G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908723	0.92107	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.0	5.0	0.66597	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91605	0.5298	9	.	.	.	.	18.2912	0.90131	0.0:1.0:0.0:0.0	.	240;240;240	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	T	240	ENSP00000216267:A240T;ENSP00000384076:A240T;ENSP00000385858:A240T;ENSP00000410042:A240T	.	A	-	1	0	BRD1	48603252	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.545000	0.67237	2.323000	0.78572	0.467000	0.42956	GCC		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		9	22	9	22	---	---	---	---
GPR119	139760	broad.mit.edu	37	X	129518743	129518743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chrX:129518743C>G	ENST00000276218.2	-	1	768	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	227					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAACAGACACAGTACGGAGA	0.547																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(679-681)Gtg>Ctg		G protein-coupled receptor 119							101.0	81.0	88.0					X																	129518743		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518743C>G	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.679G>C	X.37:g.129518743C>G	ENSP00000276218:p.Val227Leu						p.V227L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	768	-			227					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.679G>C	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548658	0.13312	.	.	ENSG00000147262	ENST00000276218	T	0.30981	1.51	5.15	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.067439	0.64402	D	0.000018	T	0.17959	0.0431	N	0.03608	-0.345	0.41821	D	0.990022	P	0.52170	0.951	P	0.51918	0.684	T	0.08166	-1.0735	10	0.02654	T	1	-4.3166	12.1115	0.53842	0.0:0.9124:0.0:0.0876	.	227	Q8TDV5	GP119_HUMAN	L	227	ENSP00000276218:V227L	ENSP00000276218:V227L	V	-	1	0	GPR119	129346424	0.999000	0.42202	0.529000	0.27951	0.466000	0.32739	4.322000	0.59215	1.123000	0.41961	0.600000	0.82982	GTG		0.547	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		27	20	27	20	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52603796	52603796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:52603796delT	ENST00000373993.1	-	2	230	c.186delA	c.(184-186)aaafs	p.K62fs	A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs|A1CF_ENST00000374001.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCGGGGAAGTTTTCCAATAA	0.403																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(184-186)aaafs		APOBEC1 complementation factor							75.0	88.0	84.0					10																	52603796		2203	4300	6503	SO:0001589	frameshift_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52603796delT	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.186delA	10.37:g.52603796delT	ENSP00000363105:p.Lys62fs					A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs	p.K62fs			Q9NQ94	A1CF_HUMAN			3	325	-						RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Del	DEL	ENST00000373993.1	37	c.186delA	CCDS7242.1																																																																																				0.403	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		36	82	36	82	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245168	46245168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:46245168delA	ENST00000334344.6	+	15	3434	c.3262delA	c.(3262-3264)aatfs	p.N1089fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1089	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCCCCCTAATAATGCAAG	0.522			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3262-3264)aatfs		AT rich interactive domain 2 (ARID, RFX-like)							84.0	82.0	82.0					12																	46245168		2203	4299	6502	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245168delA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3262delA	12.37:g.46245168delA	ENSP00000335044:p.Asn1089fs					ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs	p.N1089fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3434	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1089			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.3262delA	CCDS31783.1																																																																																				0.522	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		30	111	30	111	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061220	38061228	+	In_Frame_Del	DEL	CGTTCTCGA	CGTTCTCGA	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:38061220_38061228delCGTTCTCGA	ENST00000250448.2	-	2	822_830	c.761_769delTCGAGAACG	c.(760-771)ttcgagaacggc>tgc	p.254_257FENG>C	FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTTGCC	0.694																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-771)ttcgagaacggc>tgc		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061220_38061228delCGTTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_769delTCGAGAACG	14.37:g.38061220_38061228delCGTTCTCGA	ENSP00000250448:p.Phe254_Gly257delinsCys					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C	p.254_257FENG>C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_830	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_769delTCGAGAACG	CCDS9665.1																																																																																				0.694	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			7	18	7	18	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67016632	67016632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr17:67016632delT	ENST00000340001.4	-	19	2708	c.2497delA	c.(2497-2499)aggfs	p.R833fs	ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	833					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTGTTTTCCTTGTTTCGTGG	0.428																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2497-2499)aggfs		ATP-binding cassette, sub-family A (ABC1), member 9							118.0	108.0	111.0					17																	67016632		2203	4300	6503	SO:0001589	frameshift_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016632delT	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2497delA	17.37:g.67016632delT	ENSP00000342216:p.Arg833fs					ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs	p.R833fs	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2708	-	Breast(10;1.47e-12)		833					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Frame_Shift_Del	DEL	ENST00000340001.4	37	c.2497delA	CCDS11681.1																																																																																				0.428	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		35	117	35	117	---	---	---	---
