#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
MACF1	23499	broad.mit.edu	37	1	39908220	39908220	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:39908220T>C	ENST00000372915.3	+	76	18869	c.18782T>C	c.(18781-18783)gTt>gCt	p.V6261A	MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A|MACF1_ENST00000564288.1_Missense_Mutation_p.V6362A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6261					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCATTGAAGTTGAGCTCGCA	0.423																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19084-19086)gTt>gCt		microtubule-actin crosslinking factor 1							65.0	65.0	65.0					1																	39908220		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39908220T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18782T>C	1.37:g.39908220T>C	ENSP00000362006:p.Val6261Ala					MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A	p.V6362A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		77	19862	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6370					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.19085T>C		.	.	.	.	.	.	.	.	.	.	T	24.5	4.536194	0.85812	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000039	T	0.46698	0.1406	N	0.12569	0.235	0.80722	D	1	D;D	0.64830	0.994;0.961	D;P	0.64687	0.928;0.774	T	0.54774	-0.8243	10	0.66056	D	0.02	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	6261;4303	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	A	4303;6261;4303;4303;4173;4805	ENSP00000439537:V4303A;ENSP00000362006:V6261A;ENSP00000354573:V4303A;ENSP00000313438:V4303A;ENSP00000444364:V4173A;ENSP00000289893:V4805A	ENSP00000289893:V4805A	V	+	2	0	MACF1	39680807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	GTT		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	68	7	68	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280616	152280616	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152280616C>G	ENST00000368799.1	-	3	6781	c.6746G>C	c.(6745-6747)aGt>aCt	p.S2249T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2249	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCCTCACTGTCACTGTC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6745-6747)aGt>aCt		filaggrin							206.0	205.0	206.0					1																	152280616		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280616C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6746G>C	1.37:g.152280616C>G	ENSP00000357789:p.Ser2249Thr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2249T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6781	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2249			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6746G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	8.441	0.850752	0.17034	.	.	ENSG00000143631	ENST00000368799	T	0.11063	2.81	3.75	3.75	0.43078	.	.	.	.	.	T	0.19604	0.0471	M	0.85099	2.735	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.07693	-1.0759	9	0.27082	T	0.32	.	11.4072	0.49904	0.0:1.0:0.0:0.0	.	2249	P20930	FILA_HUMAN	T	2249	ENSP00000357789:S2249T	ENSP00000357789:S2249T	S	-	2	0	FLG	150547240	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	-0.335000	0.07873	1.814000	0.52955	0.436000	0.28706	AGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	325	6	325	---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197887072	197887072	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:197887072G>T	ENST00000367387.4	+	1	544	c.119G>T	c.(118-120)aGa>aTa	p.R40I	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000367390.3_Missense_Mutation_p.R31I	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	40					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATGGAGCGCAGATCCAAGACT	0.667																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(91-93)aGa>aTa		LIM homeobox 9							88.0	89.0	89.0					1																	197887072		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887072G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.119G>T	1.37:g.197887072G>T	ENSP00000356357:p.Arg40Ile					LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I	p.R31I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			2	119	+			40					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.92G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137614	0.94517	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.89681	0.38;-2.55;0.33;-2.55	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.93765	0.7070	10	0.66056	D	0.02	.	17.7666	0.88480	0.0:0.0:1.0:0.0	.	40;31;31	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	I	31;31;83;40;40	ENSP00000356361:R31I;ENSP00000356360:R31I;ENSP00000337969:R40I;ENSP00000356357:R40I	ENSP00000337969:R40I	R	+	2	0	LHX9	196153695	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.128000	0.94424	2.506000	0.84524	0.655000	0.94253	AGA		0.667	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		8	94	8	94	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1480927	1480927	+	Missense_Mutation	SNP	G	G	A	rs528368360		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:1480927G>A	ENST00000345913.4	+	8	980	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G297S|TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	297					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCCTGCGGCACCGGGGA	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		9489	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(889-891)Ggc>Agc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						12.0	14.0	14.0					2																	1480927		2196	4283	6479	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480927G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.889G>A	2.37:g.1480927G>A	ENSP00000318820:p.Gly297Ser					TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G297S	p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	980	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	297					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.889G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379893	0.42207	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.99	3.19	0.36642	.	0.333957	0.33005	N	0.005389	T	0.79667	0.4485	M	0.64170	1.965	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.988	P;P;P	0.60068	0.868;0.686;0.791	T	0.77520	-0.2557	10	0.49607	T	0.09	-35.0725	9.5582	0.39353	0.2286:0.0:0.7714:0.0	.	297;297;297	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	S	297;297;297;297;297;226	ENSP00000337263:G297S;ENSP00000318820:G297S;ENSP00000263886:G297S;ENSP00000329869:G297S;ENSP00000371636:G297S;ENSP00000405788:G226S	ENSP00000329869:G297S	G	+	1	0	TPO	1459934	0.565000	0.26610	0.955000	0.39395	0.023000	0.10783	1.106000	0.31098	0.518000	0.28383	0.460000	0.39030	GGC		0.692	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	8	3	8	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	295	6	295	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30859877	30859877	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr6:30859877A>G	ENST00000324771.8	+	9	1312	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	255	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTATGACTATGTGGGATGG	0.577																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(763-765)tAt>tGt		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						146.0	146.0	146.0					6																	30859877		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859877A>G	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.764A>G	6.37:g.30859877A>G	ENSP00000318217:p.Tyr255Cys					DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C	p.Y255C			Q08345	DDR1_HUMAN			9	1312	+			255					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.764A>G	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.43|19.43	3.825953|3.825953	0.71143|0.71143	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000446312|ENST00000460944;ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521	D|T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.97959|0.23147	-4.63|1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.37812|0.37812	0.1017|0.1017	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	B|D;D;D;D	0.12630|0.89917	0.006|1.0;1.0;1.0;0.999	B|D;D;D;D	0.15870|0.97110	0.014|0.999;0.996;1.0;0.995	T|T	0.32877|0.32877	-0.9890|-0.9890	9|10	0.02654|0.87932	T|D	1|0	.|.	10.8399|10.8399	0.46708|0.46708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	222|273;51;255;255	Q08345-4|B7Z2K0;A2ABM8;Q08345-5;Q08345	.|.;.;.;DDR1_HUMAN	V|C	222|255;255;255;255;255;255;255;255;255;255;273;255;255;51	ENSP00000405998:M222V|ENSP00000426420:Y255C;ENSP00000318217:Y255C;ENSP00000407699:Y255C;ENSP00000406091:Y255C;ENSP00000365753:Y255C;ENSP00000365759:Y255C;ENSP00000365754:Y255C;ENSP00000390593:Y255C;ENSP00000365752:Y255C;ENSP00000405039:Y255C;ENSP00000422442:Y273C;ENSP00000365751:Y255C;ENSP00000427552:Y255C;ENSP00000398682:Y51C	ENSP00000405998:M222V|ENSP00000318217:Y255C	M|Y	+|+	1|2	0|0	DDR1|DDR1	30967856|30967856	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	6.836000|6.836000	0.75349|0.75349	1.724000|1.724000	0.51502|0.51502	0.379000|0.379000	0.24179|0.24179	ATG|TAT		0.577	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		8	129	8	129	---	---	---	---
NDUFB9	4715	broad.mit.edu	37	8	125555467	125555467	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr8:125555467A>G	ENST00000276689.3	+	2	325	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000522532.1_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	81					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACAGCCATACATCTTCCCTGA	0.473																																						ENST00000522532.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(241-243)Atc>Gtc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NADH(DB00157)						100.0	87.0	92.0					8																	125555467		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555467A>G	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.241A>G	8.37:g.125555467A>G	ENSP00000276689:p.Ile81Val					NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V	p.I81V			Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	288	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		81					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.241A>G	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669477	0.29693	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.74;-0.76	5.46	4.3	0.51218	.	0.167332	0.52532	N	0.000074	T	0.70833	0.3269	L	0.32530	0.975	0.37366	D	0.911449	B;B	0.18013	0.025;0.001	B;B	0.17098	0.017;0.006	T	0.62530	-0.6835	10	0.08599	T	0.76	-11.604	10.0546	0.42237	0.8593:0.0:0.1407:0.0	.	81;81	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	V	81;81;81;70	ENSP00000276689:I81V;ENSP00000428282:I81V;ENSP00000431115:I81V;ENSP00000430322:I70V	ENSP00000276689:I81V	I	+	1	0	NDUFB9	125624648	0.999000	0.42202	0.974000	0.42286	0.540000	0.34992	1.813000	0.38962	0.899000	0.36444	0.533000	0.62120	ATC		0.473	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		5	60	5	60	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126146148	126146148	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:126146148C>T	ENST00000373624.2	-	21	1823	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	541					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCCTCGTCGCCTTCCGCGCT	0.657																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1621-1623)gGc>gAc		DENN/MADD domain containing 1A							76.0	76.0	76.0					9																	126146148		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146148C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1622G>A	9.37:g.126146148C>T	ENSP00000362727:p.Gly541Asp					DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR	p.G541D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			21	1823	-			541					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1622G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154272	0.57259	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30981	3.16;1.51;2.82	4.22	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.75447	2.3	0.80722	D	1	D;D;D;B	0.89917	0.999;0.999;1.0;0.113	D;D;D;B	0.74348	0.939;0.933;0.983;0.061	T	0.47873	-0.9083	10	0.33141	T	0.24	-14.3664	12.0307	0.53396	0.0:0.9147:0.0:0.0853	.	552;542;541;404	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	D	541;326;552	ENSP00000362727:G541D;ENSP00000437457:G326D;ENSP00000377766:G552D	ENSP00000362727:G541D	G	-	2	0	DENND1A	125185969	0.996000	0.38824	0.014000	0.15608	0.654000	0.38779	3.929000	0.56514	0.771000	0.33359	0.555000	0.69702	GGC		0.657	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		6	100	6	100	---	---	---	---
RALGDS	5900	broad.mit.edu	37	9	135979208	135979208	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:135979208C>T	ENST00000372050.3	-	11	1705	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000393160.3_Missense_Mutation_p.G507S|RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	562	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAACGGTGCCCTGGATGATG	0.607			T	CIITA	"""PMBL, Hodgkin Lymphona, """						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1519-1521)Ggc>Agc		ral guanine nucleotide dissociation stimulator							111.0	81.0	91.0					9																	135979208		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135979208C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1684G>A	9.37:g.135979208C>T	ENSP00000361120:p.Gly562Ser		OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1622	RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S	p.G507S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	11	1872	-			562			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1519G>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438628	0.96168	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.53	5.53	0.82687	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.207005	0.35407	N	0.003227	T	0.59473	0.2196	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.994;1.0;1.0;0.983;1.0;1.0;1.0	P;D;D;D;D;D;D;D	0.97110	0.881;0.982;1.0;1.0;0.962;1.0;1.0;1.0	T	0.63175	-0.6696	10	0.87932	D	0	.	18.4285	0.90617	0.0:1.0:0.0:0.0	.	633;533;562;550;507;561;550;562	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	S	562;550;507;259;561;633;533;122	ENSP00000361120:G562S;ENSP00000361117:G550S;ENSP00000376867:G507S;ENSP00000376864:G561S;ENSP00000437518:G633S;ENSP00000361132:G533S;ENSP00000391814:G122S	ENSP00000361117:G550S	G	-	1	0	RALGDS	134969029	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.755000	0.85180	2.587000	0.87381	0.591000	0.81541	GGC		0.607	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		24	51	24	51	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798756	55798756	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:55798756A>G	ENST00000313555.1	+	1	862	c.862A>G	c.(862-864)Ata>Gta	p.I288V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTAATCCAATAATTTATAG	0.333																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(862-864)Ata>Gta		olfactory receptor, family 5, subfamily AS, member 1							51.0	52.0	52.0					11																	55798756		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798756A>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.862A>G	11.37:g.55798756A>G	ENSP00000324111:p.Ile288Val						p.I288V	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	862	+	Esophageal squamous(21;0.00693)		288					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.862A>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	A	2.798	-0.249700	0.05867	.	.	ENSG00000181785	ENST00000313555	T	0.40756	1.02	5.0	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36002	U	0.002844	T	0.20861	0.0502	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.11131	-1.0600	10	0.49607	T	0.09	.	1.1512	0.01786	0.5269:0.1537:0.171:0.1483	.	288	Q8N127	O5AS1_HUMAN	V	288	ENSP00000324111:I288V	ENSP00000324111:I288V	I	+	1	0	OR5AS1	55555332	0.000000	0.05858	0.067000	0.19924	0.233000	0.25261	-1.320000	0.02700	0.741000	0.32674	0.472000	0.43445	ATA		0.333	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		3	68	3	68	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118199016	118199016	+	Silent	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:118199016C>T	ENST00000339824.5	-	4	1513	c.786G>A	c.(784-786)ccG>ccA	p.P262P	KSR2_ENST00000425217.1_Silent_p.P233P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	262	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGTGCGCGGCGGGGTGC	0.751																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(697-699)ccG>ccA		kinase suppressor of ras 2							46.0	58.0	55.0					12																	118199016		1840	4058	5898	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199016C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.786G>A	12.37:g.118199016C>T						KSR2_ENST00000339824.5_Silent_p.P262P	p.P233P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	753	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		262			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.699G>A																																																																																					0.751	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		6	229	6	229	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23885342	23885342	+	Silent	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr14:23885342G>T	ENST00000355349.3	-	34	4986	c.4824C>A	c.(4822-4824)cgC>cgA	p.R1608R	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTCGTTGCGGCTGCGTG	0.627																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4822-4824)cgC>cgA		myosin, heavy chain 7, cardiac muscle, beta							175.0	139.0	151.0					14																	23885342		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885342G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4824C>A	14.37:g.23885342G>T							p.R1608R	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4986	-	all_cancers(95;2.54e-05)		1608					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4824C>A	CCDS9601.1																																																																																				0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		11	96	11	96	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101595338	101595338	+	Silent	SNP	G	G	A	rs547652242		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr15:101595338G>A	ENST00000388948.3	+	27	4601	c.4242G>A	c.(4240-4242)agG>agA	p.R1414R	LRRK1_ENST00000284395.5_Silent_p.R1411R|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTCGAGGCAGTCATTCC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19432	0.0		0.001	False		,,,				2504	0.0					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4231-4233)agG>agA		leucine-rich repeat kinase 1							102.0	102.0	102.0					15																	101595338		2049	4188	6237	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595338G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4242G>A	15.37:g.101595338G>A						LRRK1_ENST00000388948.3_Silent_p.R1414R|RP11-505E24.2_ENST00000559857.1_RNA	p.R1411R			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		28	4633	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1414			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4233G>A	CCDS42086.1																																																																																				0.537	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		24	43	24	43	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84121008	84121008	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:84121008A>C	ENST00000343411.3	-	9	1584	c.1089T>G	c.(1087-1089)ttT>ttG	p.F363L	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	363	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTATCTTCAAAGTCAATGC	0.383																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1087-1089)ttT>ttG		membrane-bound transcription factor peptidase, site 1							109.0	102.0	104.0					16																	84121008		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84121008A>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1089T>G	16.37:g.84121008A>C	ENSP00000344223:p.Phe363Leu					MBTPS1_ENST00000569770.1_5'UTR	p.F363L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			9	1584	-			363			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1089T>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.403232	0.42613	.	.	ENSG00000140943	ENST00000343411	D	0.87256	-2.23	5.26	0.411	0.16392	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	N	0.05383	-0.06	0.54753	D	0.999989	P	0.38788	0.647	P	0.48873	0.593	T	0.70733	-0.4791	10	0.29301	T	0.29	-17.0748	11.1837	0.48644	0.6018:0.0:0.3982:0.0	.	363	Q14703	MBTP1_HUMAN	L	363	ENSP00000344223:F363L	ENSP00000344223:F363L	F	-	3	2	MBTPS1	82678509	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.640000	0.46579	-0.139000	0.11414	0.460000	0.39030	TTT		0.383	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		15	84	15	84	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16611793	16611793	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:16611793C>A	ENST00000221671.3	+	2	346	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	64										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACACTTACTCCTGAAAGAGAA	0.478																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(190-192)Ctg>Atg		chromosome 19 open reading frame 44							107.0	120.0	116.0					19																	16611793		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611793C>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.190C>A	19.37:g.16611793C>A	ENSP00000221671:p.Leu64Met					C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	p.L64M	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	346	+			64					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.190C>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075981	0.36662	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.05	-0.149	0.13420	.	1.086930	0.07136	N	0.846428	T	0.49406	0.1555	L	0.54323	1.7	0.09310	N	1	D;D	0.59767	0.972;0.986	P;P	0.59825	0.773;0.864	T	0.39251	-0.9623	9	0.33940	T	0.23	-2.4415	4.9	0.13769	0.0:0.5282:0.1634:0.3084	.	64;64	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	M	64	.	ENSP00000221671:L64M	L	+	1	2	C19orf44	16472793	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.235000	0.09016	0.160000	0.19432	0.655000	0.94253	CTG		0.478	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		63	96	63	96	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544860	23544860	+	Silent	SNP	T	T	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:23544860T>A	ENST00000300619.7	-	4	1126	c.921A>T	c.(919-921)tcA>tcT	p.S307S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGCAAGGGTTGAAGAATGGC	0.398																																						ENST00000300619.7																			0											c.(919-921)tcA>tcT		zinc finger protein 91							75.0	79.0	78.0					19																	23544860		2170	4285	6455	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544860T>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.921A>T	19.37:g.23544860T>A						ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S	p.S307S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1126	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	307					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.921A>T	CCDS42541.1																																																																																				0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		53	81	53	81	---	---	---	---
PFKL	5211	broad.mit.edu	37	21	45745845	45745845	+	Splice_Site	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr21:45745845G>A	ENST00000349048.4	+	20	2046	c.1991G>A	c.(1990-1992)gGt>gAt	p.G664D	PFKL_ENST00000403390.1_Splice_Site_p.G711D|AP001062.8_ENST00000422357.1_RNA	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	664	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTTTCCAGGGTGGCGCTCCA	0.657																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(2131-2133)gGt>gAt		phosphofructokinase, liver							65.0	59.0	61.0					21																	45745845		2203	4300	6503	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45745845G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1990-1G>A	21.37:g.45745845G>A						PFKL_ENST00000349048.4_Splice_Site_p.G664D	p.G711D			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	21	2132	+			664					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.2132G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363641	0.61513	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.88509	-2.39;-2.39	4.13	4.13	0.48395	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.058141	0.64402	D	0.000002	D	0.96950	0.9004	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98766	1.0726	10	0.87932	D	0	-15.6276	15.5329	0.75977	0.0:0.0:1.0:0.0	.	664;711	P17858;P17858-2	K6PL_HUMAN;.	D	664;457;711	ENSP00000269848:G664D;ENSP00000384038:G711D	ENSP00000269848:G664D	G	+	2	0	PFKL	44570273	1.000000	0.71417	0.926000	0.36857	0.085000	0.17905	9.259000	0.95561	2.047000	0.60756	0.491000	0.48974	GGT		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Missense_Mutation	7	8	7	8	---	---	---	---
