#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAH8	1769	broad.mit.edu	37	6	38841074	38841074	+	Silent	SNP	C	C	T			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr6:38841074C>T	ENST00000359357.3	+	50	7145	c.6891C>T	c.(6889-6891)gtC>gtT	p.V2297V	DNAH8_ENST00000449981.2_Silent_p.V2514V|DNAH8_ENST00000441566.1_Silent_p.V2261V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2297	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGAGAAAGTCTTTGAAGATA	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6889-6891)gtC>gtT		dynein, axonemal, heavy chain 8							96.0	87.0	90.0					6																	38841074		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38841074C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6891C>T	6.37:g.38841074C>T						DNAH8_ENST00000441566.1_Silent_p.V2261V|DNAH8_ENST00000449981.2_Silent_p.V2514V	p.V2297V							50	7145	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6891C>T																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	95	0	0	0	1	0	5	95				
LPCAT2	54947	broad.mit.edu	37	16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr16:55579653C>T	ENST00000262134.5	+	9	1043	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	287					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAGTTTATGCCAGTTCAAGT	0.289																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(859-861)Cca>Tca		lysophosphatidylcholine acyltransferase 2							95.0	95.0	95.0					16																	55579653		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579653C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.859C>T	16.37:g.55579653C>T	ENSP00000262134:p.Pro287Ser						p.P287S	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			9	1043	+			287					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.859C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935213	0.92458	.	.	ENSG00000087253	ENST00000262134	D	0.93906	-3.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.93898	3.47	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.97520	1.0072	10	0.87932	D	0	-16.5825	20.1358	0.98028	0.0:1.0:0.0:0.0	.	287	Q7L5N7	PCAT2_HUMAN	S	287	ENSP00000262134:P287S	ENSP00000262134:P287S	P	+	1	0	LPCAT2	54137154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.876000	0.63079	2.865000	0.98341	0.655000	0.94253	CCA		0.289	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		4	115	0	0	0	1	0	4	115				
RPAIN	84268	broad.mit.edu	37	17	5331589	5331589	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr17:5331589C>A	ENST00000405578.4	+	6	699	c.688C>A	c.(688-690)Cca>Aca	p.P230T	RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000381208.5_Intron|CTC-524C5.2_ENST00000575890.1_RNA	NM_001160243.1	NP_001153715.1	Q86UA6	RIP_HUMAN	RPA interacting protein	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						GGTTTTATTCCCACCTTGATA	0.408																																						ENST00000405578.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(688-690)Cca>Aca		RPA interacting protein							110.0	107.0	107.0					17																	5331589		692	1591	2283	SO:0001583	missense	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5331589C>A	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000405578.4:c.688C>A	17.37:g.5331589C>A	ENSP00000385814:p.Pro230Thr					RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA	p.P230T	NM_001160243.1	NP_001153715.1	Q86UA6	RIP_HUMAN			6	699	+			0					B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	ENST00000405578.4	37	c.688C>A	CCDS54075.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445791	0.25987	.	.	ENSG00000129197	ENST00000405578	T	0.47177	0.85	3.71	2.73	0.32206	.	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.19775	N	0.999958	P;P	0.40431	0.573;0.717	B;B	0.41088	0.19;0.347	T	0.05683	-1.0870	8	.	.	.	.	6.3886	0.21574	0.0:0.8636:0.0:0.1364	.	230;230	E9PES3;B4DI36	.;.	T	230	ENSP00000385814:P230T	.	P	+	1	0	RPAIN	5272313	0.011000	0.17503	0.050000	0.19076	0.030000	0.12068	1.256000	0.32921	1.119000	0.41883	0.563000	0.77884	CCA		0.408	RPAIN-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439383.1	NM_001033002		3	16	1	0	1	1	1	3	16				
CDC27	996	broad.mit.edu	37	17	45219678	45219678	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr17:45219678A>G	ENST00000066544.3	-	11	1388	c.1295T>C	c.(1294-1296)tTg>tCg	p.L432S	CDC27_ENST00000531206.1_Missense_Mutation_p.L438S|CDC27_ENST00000446365.2_Missense_Mutation_p.L371S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.L438S(1)|p.L432S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGAAGAGTCCAATTTTGTAAT	0.343																																						ENST00000066544.3																			2	Substitution - Missense(2)	p.L438S(1)|p.L432S(1)	lung(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1294-1296)tTg>tCg		cell division cycle 27							24.0	24.0	24.0					17																	45219678		2201	4289	6490	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219678A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1295T>C	17.37:g.45219678A>G	ENSP00000066544:p.Leu432Ser					CDC27_ENST00000446365.2_Missense_Mutation_p.L371S|CDC27_ENST00000531206.1_Missense_Mutation_p.L438S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S	p.L432S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1388	-			432					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1295T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	4.909	0.168913	0.09339	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.67345	-0.26;-0.24;0.02;-0.22	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.63674	0.2531	L	0.38175	1.15	0.49798	D	0.99982	P;D;P;P	0.55172	0.808;0.97;0.454;0.495	B;P;B;B	0.52957	0.304;0.714;0.09;0.119	T	0.59316	-0.7477	10	0.09084	T	0.74	-13.5093	13.4785	0.61322	1.0:0.0:0.0:0.0	.	371;432;438;432	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	432;438;371;432	ENSP00000066544:L432S;ENSP00000434614:L438S;ENSP00000392802:L371S;ENSP00000437339:L432S	ENSP00000066544:L432S	L	-	2	0	CDC27	42574677	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.469000	0.80959	2.076000	0.62316	0.377000	0.23210	TTG		0.343	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	27	0	0	0	1	0	3	27				
FFAR2	2867	broad.mit.edu	37	19	35940790	35940790	+	Silent	SNP	G	G	C			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr19:35940790G>C	ENST00000599180.2	+	2	254	c.174G>C	c.(172-174)ctG>ctC	p.L58L	FFAR2_ENST00000246549.2_Silent_p.L58L|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	58					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)ctG>ctC		free fatty acid receptor 2							39.0	34.0	36.0					19																	35940790		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940790G>C	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.174G>C	19.37:g.35940790G>C						FFAR2_ENST00000246549.2_Silent_p.L58L|FFAR2_ENST00000601590.1_Intron	p.L58L			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		58					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.174G>C	CCDS12461.1																																																																																				0.647	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		3	34	0	0	0	1	0	3	34				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	108	0	0	0	1	0	4	108				
KRT71	112802	broad.mit.edu	37	12	52943841	52943841	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr12:52943841G>A	ENST00000267119.5	-	2	697	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	210	Coil 1B.|Rod.			R -> Q (in Ref. 5; AAI03919). {ECO:0000305}.	hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACTACGTCCCGCACATTCCTC	0.622																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(628-630)Cgg>Tgg		keratin 71							179.0	160.0	167.0					12																	52943841		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52943841G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.628C>T	12.37:g.52943841G>A	ENSP00000267119:p.Arg210Trp						p.R210W	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	2	697	-			210	R -> Q (in Ref. 5; AAI03919).		Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.628C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348855	0.41599	.	.	ENSG00000139648	ENST00000267119	D	0.91295	-2.82	5.61	4.71	0.59529	Filament (1);	0.000000	0.42294	D	0.000731	D	0.94751	0.8306	M	0.83603	2.65	0.37548	D	0.918593	D	0.89917	1.0	D	0.72338	0.977	D	0.95998	0.8991	10	0.87932	D	0	.	10.6686	0.45745	0.0686:0.0:0.7983:0.1331	.	210	Q3SY84	K2C71_HUMAN	W	210	ENSP00000267119:R210W	ENSP00000267119:R210W	R	-	1	2	KRT71	51230108	0.000000	0.05858	0.478000	0.27316	0.037000	0.13140	0.599000	0.24089	1.493000	0.48517	0.561000	0.74099	CGG		0.622	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		4	111	0	0	0	1	0	4	111				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	284802							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	104	0	0	0	1	0	4	104				
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		26	56	1	0	2.24059e-21	1	2.76779e-21	26	56				
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	lincRNA	SNP	T	T	C	rs80149641		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323																																						ENST00000423385.1																			0																																																			0							g.chr1:142803493T>C																													1.37:g.142803493T>C														0	1472	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.323	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	43	0	0	0	1	0	7	43				
PDE4DIP	9659	broad.mit.edu	37	1	144856986	144856986	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:144856986C>A	ENST00000369354.3	-	40	6688	c.6499G>T	c.(6499-6501)Gct>Tct	p.A2167S	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2303S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2252S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2167					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCATCAGTAGCATCACCCTCT	0.473			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6907-6909)Gct>Tct		phosphodiesterase 4D interacting protein							85.0	80.0	81.0					1																	144856986		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856986C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6499G>T	1.37:g.144856986C>A	ENSP00000358360:p.Ala2167Ser					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2252S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2167S	p.A2303S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	6945	-			2167					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6907G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.19|19.19	3.780128|3.780128	0.70222|0.70222	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01963|.	4.53;4.57;4.57;4.64;4.58|.	4.48|4.48	3.49|3.49	0.39957|0.39957	.|.	.|.	.|.	.|.	.|.	T|T	0.47116|0.47116	0.1428|0.1428	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	P;D|.	0.71674|.	0.873;0.998|.	P;D|.	0.77004|.	0.619;0.989|.	T|T	0.41716|0.41716	-0.9493|-0.9493	8|5	.|.	.|.	.|.	.|.	11.2416|11.2416	0.48972|0.48972	0.1837:0.8163:0.0:0.0|0.1837:0.8163:0.0:0.0	.|.	2061;2167|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	S|I	2061;2167;2167;2252;2303|243	ENSP00000327209:A2061S;ENSP00000358360:A2167S;ENSP00000358363:A2167S;ENSP00000435654:A2252S;ENSP00000358366:A2303S|.	.|.	A|M	-|-	1|3	0|0	PDE4DIP|PDE4DIP	143568343|143568343	0.996000|0.996000	0.38824|0.38824	0.933000|0.933000	0.37362|0.37362	0.944000|0.944000	0.59088|0.59088	3.593000|3.593000	0.54001|0.54001	2.237000|2.237000	0.73441|0.73441	0.449000|0.449000	0.29647|0.29647	GCT|ATG		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	71	1	0	6.40141e-05	1	7.46831e-05	6	71				
USP32P2	220594	broad.mit.edu	37	17	18420772	18420772	+	RNA	SNP	G	G	A	rs28569074		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr17:18420772G>A	ENST00000425211.1	-	0	1705				USP32P2_ENST00000412260.1_RNA																							AATTGAAATCGCTTAAGGTGA	0.343																																						ENST00000425211.1																			0																																																			220594							g.chr17:18420772G>A																													17.37:g.18420772G>A														0	1705	-									RNA	SNP	ENST00000425211.1	37																																																																																						0.343	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473021.1			3	26	0	0	0	1	0	3	26				
PANK4	55229	broad.mit.edu	37	1	2440495	2440495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:2440495delG	ENST00000378466.3	-	19	2125	c.2113delC	c.(2113-2115)ctgfs	p.L705fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.L666fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	705					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCCTTATCCAGGCGGCTTTGG	0.642																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(2113-2115)tgfs		pantothenate kinase 4							21.0	19.0	20.0					1																	2440495		2197	4293	6490	SO:0001589	frameshift_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2440495delG	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2113delC	1.37:g.2440495delG	ENSP00000367727:p.Leu705fs					PANK4_ENST00000435556.3_Frame_Shift_Del_p.L666fs	p.L705fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	19	2125	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	705					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Frame_Shift_Del	DEL	ENST00000378466.3	37	c.2113delC	CCDS42.1																																																																																				0.642	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			2	4						2	4	---	---	---	---
PLEKHG5	57449	broad.mit.edu	37	1	6531115	6531115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:6531115delC	ENST00000400915.3	-	14	1561	c.1495delG	c.(1495-1497)gagfs	p.E499fs	PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377748.1_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E522fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E480fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E512fs	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	499	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCAGCCCTCCTCCTCCATG	0.701																																						ENST00000377748.1																			0				liver(1)	1						c.(1558-1560)agfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							25.0	23.0	24.0					1																	6531115		2201	4296	6497	SO:0001589	frameshift_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6531115delC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1495delG	1.37:g.6531115delC	ENSP00000383706:p.Glu499fs					PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E522fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E499fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E512fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E480fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E443fs	p.E520fs	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	14	2055	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	499			DH.		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Frame_Shift_Del	DEL	ENST00000400915.3	37	c.1558delG	CCDS41241.1																																																																																				0.701	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		2	4						2	4	---	---	---	---
RGPD2	729857	broad.mit.edu	37	2	88091594	88091595	+	Splice_Site	INS	-	-	A	rs370321845		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr2:88091594_88091595insA	ENST00000398146.3	-	17	2602		c.e17-2		RGPD2_ENST00000327544.6_Splice_Site|RGPD2_ENST00000420840.2_Splice_Site			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2						protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						GGGAGAATACtaaaaaaaaaaa	0.312																																						ENST00000398146.3																			0				breast(1)|pancreas(1)	2						c.e17-2		RANBP2-like and GRIP domain containing 2																																				SO:0001630	splice_region_variant	729857				intracellular transport		binding	g.chr2:88091594_88091595insA		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.2380-2->T	2.37:g.88091605_88091605dupA						RGPD2_ENST00000420840.2_Splice_Site|RGPD2_ENST00000327544.6_Splice_Site				Q68DN6	RGPD1_HUMAN			17	2602	-								P0C839|Q68DN6|Q6V1X0	Splice_Site	INS	ENST00000398146.3	37		CCDS42710.2																																																																																				0.312	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170	Intron	2	4						2	4	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84871605	84871605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr6:84871605delT	ENST00000403245.3	-	20	2650	c.2536delA	c.(2536-2538)attfs	p.I846fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.I770fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTTCTAAAATTTTTATTTCA	0.294																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2536-2538)ttfs		KIAA1009							55.0	54.0	54.0					6																	84871605		2200	4294	6494	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84871605delT																												ENST00000403245.3:c.2536delA	6.37:g.84871605delT	ENSP00000385215:p.Ile846fs					KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.I770fs|KIAA1009_ENST00000461137.1_5'UTR	p.I846fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	20	2650	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	846						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.2536delA	CCDS34494.2																																																																																				0.294	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			2	4						2	4	---	---	---	---
