#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
PAK7	57144	broad.mit.edu	37	20	9523285	9523285	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:9523285G>A	ENST00000378429.3	-	10	2498	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	PAK7_ENST00000353224.5_Missense_Mutation_p.A651V|PAK7_ENST00000378423.1_Missense_Mutation_p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCCGCATCGCCTGGAGGGG	0.507																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1951-1953)gCg>gTg		p21 protein (Cdc42/Rac)-activated kinase 7							136.0	134.0	135.0					20																	9523285		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9523285G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1952C>T	20.37:g.9523285G>A	ENSP00000367686:p.Ala651Val					PAK7_ENST00000378423.1_Missense_Mutation_p.A651V|PAK7_ENST00000353224.5_Missense_Mutation_p.A651V	p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		10	2498	-			651			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1952C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443967	0.96187	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.66099	-0.19;-0.19;-0.19	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.67745	-0.5591	9	.	.	.	.	19.3557	0.94412	0.0:0.0:1.0:0.0	.	651	Q9P286	PAK7_HUMAN	V	651	ENSP00000367686:A651V;ENSP00000322957:A651V;ENSP00000367679:A651V	.	A	-	2	0	PAK7	9471285	1.000000	0.71417	0.960000	0.40013	0.861000	0.49209	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GCG		0.507	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			34	81	0	0	0	1	0	34	81				
DIDO1	11083	broad.mit.edu	37	20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATCACCTGCGGGGCCTGGCC	0.687																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6046-6048)cCg>cTg		death inducer-obliterator 1							36.0	47.0	44.0					20																	61511261		2177	4264	6441	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511261G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6047C>T	20.37:g.61511261G>A	ENSP00000266070:p.Pro2016Leu					DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6372	-	Breast(26;5.68e-08)		2016			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6047C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778986	0.16120	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09255	3.0;3.0	4.94	3.92	0.45320	.	1.080270	0.07312	N	0.876107	T	0.09512	0.0234	L	0.36672	1.1	0.19300	N	0.99998	P	0.50819	0.939	B	0.34242	0.178	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.6771	12.2577	0.54633	0.0:0.0:0.7274:0.2726	.	2016	Q9BTC0	DIDO1_HUMAN	L	2016	ENSP00000266070:P2016L;ENSP00000378752:P2016L	ENSP00000266070:P2016L	P	-	2	0	DIDO1	60981706	0.822000	0.29219	0.029000	0.17559	0.088000	0.18126	2.359000	0.44142	2.277000	0.76020	0.561000	0.74099	CCG		0.687	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	158	0	0	0	1	0	4	158				
BCRP7	100133163	broad.mit.edu	37	22	18846020	18846020	+	3'UTR	SNP	T	T	C	rs1064861	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr22:18846020T>C	ENST00000412938.1	+	0	3378																											TCACTGACGTTGAAGGCTGCC	0.637													t|||	4	0.000798722	0.0	0.0	5008	,	,		35350	0.001		0.0	False		,,,				2504	0.0031					ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846020T>C																												ENST00000412938.1:c.*3375T>C	22.37:g.18846020T>C														0	3378	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.637	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	34	0	0	0	1	0	3	34				
MUC17	140453	broad.mit.edu	37	7	100677874	100677874	+	Silent	SNP	G	G	A	rs147962629	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100677874G>A	ENST00000306151.4	+	3	3241	c.3177G>A	c.(3175-3177)acG>acA	p.T1059T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1059	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1059T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGAAACGAGCACACTTT	0.502																																						ENST00000306151.4																			1	Substitution - coding silent(1)	p.T1059T(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3175-3177)acG>acA		mucin 17, cell surface associated		C		4,4402		0,4,2199	489.0	380.0	417.0		3177	-1.0	0.0	7	dbSNP_134	417	8,8592		0,8,4292	no	coding-synonymous	MUC17	NM_001040105.1		0,12,6491	AA,AG,GG		0.093,0.0908,0.0923		1059/4494	100677874	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677874G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3177G>A	7.37:g.100677874G>A							p.T1059T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3241	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1059			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3177G>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	558	0	0	0	1	0	7	558				
RP11-556N21.1	0	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558|rs3742170	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398													a|||	2400	0.479233	0.4871	0.4798	5008	,	,		15632	0.4246		0.3976	False		,,,				2504	0.6084					ENST00000453498.1																			0																																																			0							g.chr13:25144710A>G																													13.37:g.25144710A>G														0	251	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.398	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	27	0	0	0	1	0	3	27				
BCAN	63827	broad.mit.edu	37	1	156626790	156626790	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:156626790C>A	ENST00000329117.5	+	10	2447	c.2111C>A	c.(2110-2112)tCc>tAc	p.S704Y	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	704	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACTTTTCCACACGAAGG	0.627																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2110-2112)tCc>tAc		brevican							47.0	49.0	48.0					1																	156626790		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626790C>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2111C>A	1.37:g.156626790C>A	ENSP00000331210:p.Ser704Tyr					BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.S704Y	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			10	2447	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		704			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2111C>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864161	0.51482	.	.	ENSG00000132692	ENST00000329117	T	0.17854	2.25	5.29	5.29	0.74685	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.316966	0.27084	N	0.021007	T	0.16428	0.0395	M	0.64404	1.975	0.37522	D	0.917579	P	0.50710	0.938	P	0.47470	0.548	T	0.00928	-1.1511	10	0.72032	D	0.01	-13.6089	12.7101	0.57083	0.1646:0.8354:0.0:0.0	.	704	Q96GW7	PGCB_HUMAN	Y	704	ENSP00000331210:S704Y	ENSP00000331210:S704Y	S	+	2	0	BCAN	154893414	0.003000	0.15002	0.744000	0.31058	0.397000	0.30659	1.915000	0.39976	2.756000	0.94617	0.561000	0.74099	TCC		0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		18	30	1	0	5.3912e-06	1	6.23688e-06	18	30				
DNAH5	1767	broad.mit.edu	37	5	13923453	13923453	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:13923453C>A	ENST00000265104.4	-	4	478	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G125V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACACATACCCCAGTAAGAGC	0.473									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.G125V(1)	lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(373-375)gGg>gTg		dynein, axonemal, heavy chain 5							242.0	228.0	233.0					5																	13923453		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13923453C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.374G>T	5.37:g.13923453C>A	ENSP00000265104:p.Gly125Val						p.G125V	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			4	478	-	Lung NSC(4;0.00476)		125			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.374G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288258	0.59976	.	.	ENSG00000039139	ENST00000265104	T	0.26373	1.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.84948	2.725	0.80722	D	1	D	0.62365	0.991	P	0.62089	0.898	T	0.61749	-0.6999	10	0.87932	D	0	.	19.8162	0.96569	0.0:1.0:0.0:0.0	.	125	Q8TE73	DYH5_HUMAN	V	125	ENSP00000265104:G125V	ENSP00000265104:G125V	G	-	2	0	DNAH5	13976453	1.000000	0.71417	0.159000	0.22649	0.092000	0.18411	7.162000	0.77515	2.681000	0.91329	0.655000	0.94253	GGG		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	201	1	0	0.00909568	1	0.00941483	4	201				
CAMKK2	10645	broad.mit.edu	37	12	121678617	121678617	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:121678617C>T	ENST00000324774.5	-	17	2480	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000545538.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	551					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCACTTCCTCCTCCCCCACG	0.647																																						ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1651-1653)gGa>gAa		calcium/calmodulin-dependent protein kinase kinase 2, beta							34.0	40.0	38.0					12																	121678617		2201	4293	6494	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121678617C>T	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1652G>A	12.37:g.121678617C>T	ENSP00000312741:p.Gly551Glu					CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000545538.1_Intron	p.G551E	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			17	2480	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		551					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.1652G>A	CCDS9216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082123|4.082123	0.76528|0.76528	.|.	.|.	ENSG00000110931|ENSG00000110931	ENST00000538733;ENST00000337174;ENST00000412367;ENST00000360452|ENST00000347034;ENST00000324774;ENST00000404169	T;T;T|T;T;T	0.73897|0.74947	-0.78;-0.79;-0.79|-0.7;-0.89;-0.89	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|.	.|.	.|.	.|.	T|T	0.74779|0.74779	0.3761|0.3761	L|L	0.51422|0.51422	1.61|1.61	0.40897|0.40897	D|D	0.984124|0.984124	B;B|P;P	0.23650|0.40931	0.089;0.089|0.733;0.614	B;B|P;B	0.26202|0.44811	0.067;0.067|0.461;0.272	T|T	0.76900|0.76900	-0.2788|-0.2788	9|9	0.62326|0.45353	D|T	0.03|0.12	-3.2842|-3.2842	17.278|17.278	0.87121|0.87121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	494;537|508;551	Q96RR4-5;Q96RR4-3|Q96RR4-4;Q96RR4	.;.|.;KKCC2_HUMAN	K|E	494;537;537;520|508;551;551	ENSP00000445944:E494K;ENSP00000336634:E537K;ENSP00000388368:E537K|ENSP00000321230:G508E;ENSP00000312741:G551E;ENSP00000384600:G551E	ENSP00000336634:E537K|ENSP00000312741:G551E	E|G	-|-	1|2	0|0	CAMKK2|CAMKK2	120163000|120163000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.512000|5.512000	0.67030|0.67030	2.416000|2.416000	0.81992|0.81992	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.647	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		15	39	0	0	0	1	0	15	39				
CACNA1G	8913	broad.mit.edu	37	17	48649291	48649291	+	Silent	SNP	C	C	T	rs377421647		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:48649291C>T	ENST00000359106.5	+	5	639	c.639C>T	c.(637-639)aaC>aaT	p.N213N	CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000352832.5_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	213					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTGGGCAACGTCCTGCTGC	0.617																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(637-639)aaC>aaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	C	,,,,,,,,,,,,,,	0,4338		0,0,2169	109.0	110.0	110.0		639,639,639,639,639,639,639,639,639,639,639,639,639,639,639	0.1	1.0	17		110	1,8521		0,1,4260	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1,NM_198397.1	,,,,,,,,,,,,,,	0,1,6429	TT,TC,CC		0.0117,0.0,0.0078	,,,,,,,,,,,,,,	213/2378,213/2172,213/2355,213/2274,213/2299,213/2322,213/2262,213/2307,213/2285,213/2333,213/2267,213/2251,213/2244,213/2344,213/1556	48649291	1,12859	2169	4261	6430	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649291C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.639C>T	17.37:g.48649291C>T						CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N|CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000359106.5_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N	p.N213N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	1011	+	Breast(11;6.7e-17)		213					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.639C>T	CCDS45730.1																																																																																				0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		24	52	0	0	0	1	0	24	52				
ZBTB46	140685	broad.mit.edu	37	20	62422012	62422012	+	Silent	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:62422012G>T	ENST00000245663.4	-	2	249	c.99C>A	c.(97-99)gtC>gtA	p.V33V	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Silent_p.V33V|ZBTB46_ENST00000395104.1_Silent_p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGACCACGCAGACGTCGCACA	0.587																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(97-99)gtC>gtA		zinc finger and BTB domain containing 46							67.0	53.0	58.0					20																	62422012		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62422012G>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.99C>A	20.37:g.62422012G>T						ZBTB46_ENST00000395104.1_Silent_p.V33V|ZBTB46_ENST00000302995.2_Silent_p.V33V	p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	249	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		33			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.99C>A	CCDS13538.1																																																																																				0.587	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		7	30	1	0	0.000274275	1	0.000294222	7	30				
KIR3DL1	3811	broad.mit.edu	37	19	55331320	55331320	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:55331320C>A	ENST00000391728.4	+	4	541	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	170	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTCGTTGGACAGATCCATGA	0.517																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(508-510)Cag>Aag		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							184.0	169.0	174.0					19																	55331320		2187	4193	6380	SO:0001583	missense	3811							g.chr19:55331320C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.508C>A	19.37:g.55331320C>A	ENSP00000375608:p.Gln170Lys					KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K	p.Q170K	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	541	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.508C>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.283	0.051682	0.08291	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06	1.44	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03220	0.0094	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.27559	0.011;0.003;0.025;0.181	B;B;B;B	0.27170	0.014;0.022;0.04;0.077	T	0.37686	-0.9695	9	0.66056	D	0.02	.	3.7605	0.08602	0.3101:0.4043:0.2856:0.0	.	170;75;170;170	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	K	170;170;170;148;170;170;75	ENSP00000384528:Q170K;ENSP00000443350:Q170K;ENSP00000442355:Q170K;ENSP00000375608:Q170K;ENSP00000326868:Q170K;ENSP00000350901:Q75K	ENSP00000326868:Q170K	Q	+	1	0	KIR3DL1	60023132	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.038000	0.00308	-1.477000	0.01872	-1.398000	0.01145	CAG		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		5	272	1	0	0.0215528	1	0.0219244	5	272				
ADAMTS7	11173	broad.mit.edu	37	15	79060504	79060504	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr15:79060504C>A	ENST00000388820.4	-	17	2826	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCTGCACTTCCTCTGTTGGT	0.697																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2614-2616)agG>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							22.0	23.0	23.0					15																	79060504		2190	4289	6479	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79060504C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2616G>T	15.37:g.79060504C>A	ENSP00000373472:p.Arg872Ser					ADAMTS7_ENST00000566303.1_5'UTR	p.R872S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			17	2826	-			872			TSP type-1 2.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2616G>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252072	0.59212	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.55588	0.51	4.57	3.63	0.41609	.	0.132185	0.50627	D	0.000105	T	0.70544	0.3236	M	0.91249	3.19	0.42420	D	0.992638	B;P	0.52316	0.267;0.952	B;P	0.60789	0.039;0.879	T	0.71414	-0.4600	10	0.59425	D	0.04	.	5.3239	0.15895	0.0:0.6428:0.1677:0.1895	.	448;872	E7EP58;Q9UKP4	.;ATS7_HUMAN	S	872;448	ENSP00000373472:R872S	ENSP00000373472:R872S	R	-	3	2	ADAMTS7	76847559	0.086000	0.21541	0.297000	0.24988	0.592000	0.36648	0.962000	0.29280	0.871000	0.35750	0.471000	0.43371	AGG		0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	9	1	0	6.4e-05	1	7.12453e-05	3	9				
EPPK1	83481	broad.mit.edu	37	8	144940742	144940742	+	Missense_Mutation	SNP	G	G	A	rs549060166	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:144940742G>A	ENST00000525985.1	-	2	6751	c.6680C>T	c.(6679-6681)gCg>gTg	p.A2227V				P58107	EPIPL_HUMAN	epiplakin 1	2227						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGACGCCCGCGATGCAGCT	0.677													G|||	3	0.000599042	0.0023	0.0	5008	,	,		61066	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6679-6681)gCg>gTg		epiplakin 1																																				SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940742G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6680C>T	8.37:g.144940742G>A	ENSP00000436337:p.Ala2227Val						p.A2227V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6751	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2227					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6680C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.489922	0.96339	.	.	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	4.67	4.67	0.58626	.	.	.	.	.	D	0.86936	0.6053	M	0.84433	2.695	0.47778	D	0.999511	D	0.89917	1.0	D	0.97110	1.0	D	0.88471	0.3062	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2227	E9PPU0	.	V	2227	ENSP00000436337:A2227V	ENSP00000436337:A2227V	A	-	2	0	EPPK1	145012730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.474000	0.73578	2.420000	0.82092	0.591000	0.81541	GCG		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	165	0	0	0	1	0	4	165				
PHLDB1	23187	broad.mit.edu	37	11	118516368	118516368	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:118516368G>A	ENST00000361417.2	+	17	3827	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Splice_Site_p.S282N|PHLDB1_ENST00000356063.5_Splice_Site_p.S1092N|PHLDB1_ENST00000527898.1_Splice_Site_p.S190N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1139										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AACATGTCCAGGTACACCCGA	0.637																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.e17+1		pleckstrin homology-like domain, family B, member 1							83.0	80.0	81.0					11																	118516368		2200	4295	6495	SO:0001630	splice_region_variant	23187							g.chr11:118516368G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3416+1G>A	11.37:g.118516368G>A						PHLDB1_ENST00000356063.5_Splice_Site_p.S1092_splice|PHLDB1_ENST00000527898.1_Splice_Site_p.S190_splice|PHLDB1_ENST00000524713.1_Splice_Site_p.S282_splice|PHLDB1_ENST00000534672.1_3'UTR	p.S1139_splice	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	17	3827	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1139					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Splice_Site	SNP	ENST00000361417.2	37	c.3416_splice	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112490	0.94339	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.25	5.25	0.73442	.	0.267160	0.47455	D	0.000221	T	0.60919	0.2306	L	0.53561	1.675	0.80722	D	1	P;D;D;P	0.54772	0.773;0.957;0.968;0.658	P;P;P;B	0.57009	0.597;0.71;0.811;0.423	T	0.60855	-0.7180	10	0.48119	T	0.1	-5.5541	18.8652	0.92289	0.0:0.0:1.0:0.0	.	503;898;1092;1139	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	N	1139;913;503;1092;190;282	ENSP00000354498:S1139N;ENSP00000348359:S1092N;ENSP00000435388:S190N;ENSP00000434905:S282N	ENSP00000348359:S1092N	S	+	2	0	PHLDB1	118021578	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.942000	0.75928	2.446000	0.82766	0.655000	0.94253	AGC		0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	Missense_Mutation	31	66	0	0	0	1	0	31	66				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	82	0	0	0	1	0	4	82				
DIP2A	23181	broad.mit.edu	37	21	47918601	47918601	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:47918601C>T	ENST00000417564.2	+	5	531	c.510C>T	c.(508-510)gtC>gtT	p.V170V	DIP2A_ENST00000457905.3_Silent_p.V170V|DIP2A_ENST00000318711.7_Silent_p.V170V|DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	170					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGACCGGGTCATTCAGGGCT	0.667																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(508-510)gtC>gtT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							75.0	90.0	85.0					21																	47918601		2077	4201	6278	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918601C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.510C>T	21.37:g.47918601C>T						DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V|DIP2A_ENST00000417564.2_Silent_p.V170V|DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000457905.3_Silent_p.V170V	p.V170V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	693	+	Breast(49;0.0933)		170					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.510C>T	CCDS46655.1																																																																																				0.667	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		6	91	0	0	0	1	0	6	91				
PSME4	23198	broad.mit.edu	37	2	54128611	54128611	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:54128611G>A	ENST00000404125.1	-	28	3216	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1054					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACAATCGCTGGCCACGTCTG	0.438																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3160-3162)cCa>cTa		proteasome (prosome, macropain) activator subunit 4							143.0	136.0	138.0					2																	54128611		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54128611G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3161C>T	2.37:g.54128611G>A	ENSP00000384211:p.Pro1054Leu					PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	p.P1054L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		28	3216	-			1054					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3161C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371436	0.61624	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.25749	1.78;1.79	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.43152	1.355	0.80722	D	1	B;B;B	0.33494	0.414;0.099;0.29	B;B;B	0.34722	0.188;0.041;0.092	T	0.03695	-1.1012	10	0.08179	T	0.78	.	19.6148	0.95629	0.0:0.0:1.0:0.0	.	429;198;1054	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	L	198;1054	ENSP00000410830:P198L;ENSP00000384211:P1054L	ENSP00000384211:P1054L	P	-	2	0	PSME4	53982115	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.634000	0.89283	0.557000	0.71058	CCA		0.438	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		65	112	0	0	0	1	0	65	112				
FAM27L	284123	broad.mit.edu	37	17	21825433	21825433	+	lincRNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:21825433G>A	ENST00000426869.3	+	0	137					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ccgaggctccggcctgacttc	0.622																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like																																						284123							g.chr17:21825433G>A	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825433G>A								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	137	+									RNA	SNP	ENST00000426869.3	37																																																																																						0.622	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		9	18	0	0	0	1	0	9	18				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	137	0	0	0	1	0	4	137				
NBEA	26960	broad.mit.edu	37	13	36223967	36223967	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36223967G>T	ENST00000400445.3	+	51	8417	c.7883G>T	c.(7882-7884)aGa>aTa	p.R2628I	NBEA_ENST00000540320.1_Missense_Mutation_p.R2628I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2628					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGTGAATAGATGGCACAAC	0.448																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(7882-7884)aGa>aTa		neurobeachin							89.0	87.0	88.0					13																	36223967		2014	4180	6194	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36223967G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7883G>T	13.37:g.36223967G>T	ENSP00000383295:p.Arg2628Ile					NBEA_ENST00000400445.3_Missense_Mutation_p.R2628I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I	p.R2628I			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	51	8417	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2628					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7883G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516755	0.85495	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	L	0.39898	1.24	0.80722	D	1	B;D;B	0.55800	0.249;0.973;0.26	B;P;B	0.61800	0.129;0.894;0.088	T	0.77477	-0.2573	10	0.46703	T	0.11	.	19.1732	0.93588	0.0:0.0:1.0:0.0	.	2628;206;2625	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	I	2628;2628;2625;2628;1255;206;421;206	ENSP00000440951:R2628I;ENSP00000383295:R2628I;ENSP00000369271:R2625I;ENSP00000308534:R2628I;ENSP00000440233:R421I;ENSP00000369254:R206I	ENSP00000308534:R2628I	R	+	2	0	NBEA	35121967	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.836000	0.86788	2.541000	0.85698	0.563000	0.77884	AGA		0.448	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		18	54	1	0	5.35267e-07	1	6.31615e-07	18	54				
RGS6	9628	broad.mit.edu	37	14	72976895	72976895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:72976895G>A	ENST00000553530.1	+	14	1206	c.999G>A	c.(997-999)tgG>tgA	p.W333*	RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	333					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TAAAAAGATGGGGCTTCTCTT	0.453																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(997-999)tgG>tgA		regulator of G-protein signaling 6							115.0	130.0	125.0					14																	72976895		2203	4300	6503	SO:0001587	stop_gained	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976895G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.999G>A	14.37:g.72976895G>A	ENSP00000452331:p.Trp333*					RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*	p.W333*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1206	+			333					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Nonsense_Mutation	SNP	ENST00000553530.1	37	c.999G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	41	8.997171	0.99031	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	.	.	.	5.72	5.72	0.89469	.	0.049272	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7517	20.244	0.98389	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;333;333;333;333;333;333;333;296;305;264;194;194	.	ENSP00000341199:W296X	W	+	3	0	RGS6	72046648	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	TGG		0.453	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			54	89	0	0	0	1	0	54	89				
IARS2	55699	broad.mit.edu	37	1	220284136	220284136	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:220284136A>T	ENST00000302637.5	+	11	1440	c.1336A>T	c.(1336-1338)Atg>Ttg	p.M446L	IARS2_ENST00000366922.1_Missense_Mutation_p.M374L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	446					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGTTATAAAGATGCTTCAGAC	0.338																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1120-1122)Atg>Ttg		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						61.0	65.0	64.0					1																	220284136		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220284136A>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1336A>T	1.37:g.220284136A>T	ENSP00000303279:p.Met446Leu					IARS2_ENST00000302637.5_Missense_Mutation_p.M446L	p.M374L			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	11	1451	+			446					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1120A>T	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	A	9.747	1.166482	0.21621	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.32988	1.43;1.43	5.3	4.15	0.48705	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.143274	0.85682	N	0.000000	T	0.18593	0.0446	N	0.13299	0.325	0.50171	D	0.999857	P	0.44309	0.832	B	0.42495	0.389	T	0.02477	-1.1153	10	0.11182	T	0.66	-0.8986	12.541	0.56169	0.8605:0.1395:0.0:0.0	.	446	Q9NSE4	SYIM_HUMAN	L	374;446	ENSP00000355889:M374L;ENSP00000303279:M446L	ENSP00000303279:M446L	M	+	1	0	IARS2	218350759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.426000	0.59882	0.932000	0.37266	0.460000	0.39030	ATG		0.338	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		14	73	0	0	0	1	0	14	73				
EXPH5	23086	broad.mit.edu	37	11	108383203	108383203	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:108383203T>C	ENST00000265843.4	-	6	3141	c.3031A>G	c.(3031-3033)Aaa>Gaa	p.K1011E	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E|EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1011					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAGAAACTTTGGAATTGCTT	0.378																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3031-3033)Aaa>Gaa		exophilin 5							91.0	84.0	86.0					11																	108383203		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383203T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3031A>G	11.37:g.108383203T>C	ENSP00000265843:p.Lys1011Glu					EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E	p.K1011E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3141	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1011					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3031A>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	t	14.08	2.429333	0.43122	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04551	4.18;4.11;3.96;4.18;4.02;3.6	5.87	0.386	0.16254	.	0.651360	0.15598	N	0.254042	T	0.04952	0.0133	L	0.56769	1.78	0.09310	N	1	P	0.42296	0.775	B	0.36464	0.225	T	0.35176	-0.9799	10	0.35671	T	0.21	-5.9186	6.7553	0.23510	0.0:0.1446:0.2527:0.6027	.	1011	Q8NEV8	EXPH5_HUMAN	E	1011;935;823;1004;935;823	ENSP00000265843:K1011E;ENSP00000391966:K935E;ENSP00000411390:K823E;ENSP00000432546:K1004E;ENSP00000432683:K935E;ENSP00000446434:K823E	ENSP00000265843:K1011E	K	-	1	0	EXPH5	107888413	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.210000	0.17455	0.132000	0.18615	-0.253000	0.11424	AAA		0.378	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		4	111	0	0	0	1	0	4	111				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	64	0	0	0	1	0	31	64				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862768	10862768	+	RNA	SNP	C	C	G	rs370370045		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:10862768C>G	ENST00000559480.1	+	0	64							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCCCAGGTACAGCTGGTGCA	0.547																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															192.0	185.0	187.0					21																	10862768		1935	4152	6087			0							g.chr21:10862768C>G			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862768C>G														0	64	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.547	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		37	297	0	0	0	1	0	37	297				
XPC	7508	broad.mit.edu	37	3	14220007	14220007	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr3:14220007G>C	ENST00000285021.7	-	1	276	c.62C>G	c.(61-63)tCc>tGc	p.S21C	XPC_ENST00000449060.2_Missense_Mutation_p.S21C|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	21					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGGCCTTGGATTTCTGGCT	0.697			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(61-63)tCc>tGc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							30.0	36.0	34.0					3																	14220007		1956	4120	6076	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14220007G>C		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.62C>G	3.37:g.14220007G>C	ENSP00000285021:p.Ser21Cys					XPC_ENST00000449060.2_Missense_Mutation_p.S21C|LSM3_ENST00000306024.3_5'UTR	p.S21C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	276	-			21					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.62C>G	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799469	0.70567	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.64085	-0.08;-0.08;-0.06	4.89	2.95	0.34219	.	1.539220	0.03689	N	0.246801	T	0.47783	0.1464	N	0.14661	0.345	0.28112	N	0.93095	B;B	0.33637	0.42;0.42	B;B	0.31869	0.137;0.137	T	0.48293	-0.9048	10	0.54805	T	0.06	-7.5356	8.6957	0.34293	0.0861:0.153:0.7609:0.0	.	21;21	E9PH69;Q01831	.;XPC_HUMAN	C	21	ENSP00000285021:S21C;ENSP00000404002:S21C;ENSP00000423867:S21C	ENSP00000285021:S21C	S	-	2	0	XPC	14195011	0.000000	0.05858	0.004000	0.12327	0.333000	0.28666	0.594000	0.24014	1.181000	0.42912	0.591000	0.81541	TCC		0.697	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		8	56	0	0	0	1	0	8	56				
ZCCHC12	170261	broad.mit.edu	37	X	117959361	117959361	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:117959361G>T	ENST00000310164.2	+	4	661	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	52					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ctcggggagggtggtgccagc	0.552																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(154-156)Gtg>Ttg		zinc finger, CCHC domain containing 12							72.0	68.0	70.0					X																	117959361		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959361G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.154G>T	X.37:g.117959361G>T	ENSP00000308921:p.Val52Leu						p.V52L	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	661	+			52					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.154G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	5.511	0.279303	0.10458	.	.	ENSG00000174460	ENST00000310164	T	0.09255	3.0	3.09	1.3	0.21679	.	0.294047	0.18547	N	0.138037	T	0.10895	0.0266	M	0.69823	2.125	0.21553	N	0.999649	B	0.12013	0.005	B	0.10450	0.005	T	0.29792	-1.0000	10	0.25751	T	0.34	-2.9209	4.9402	0.13961	0.3044:0.0:0.6956:0.0	.	52	Q6PEW1	ZCH12_HUMAN	L	52	ENSP00000308921:V52L	ENSP00000308921:V52L	V	+	1	0	ZCCHC12	117843389	1.000000	0.71417	0.977000	0.42913	0.755000	0.42902	1.557000	0.36299	0.209000	0.20645	-0.197000	0.12766	GTG		0.552	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		14	70	1	0	1.49906e-05	1	1.70086e-05	14	70				
FLAD1	80308	broad.mit.edu	37	1	154965110	154965110	+	Intron	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:154965110T>C	ENST00000292180.3	+	6	1876				FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000295530.2_Missense_Mutation_p.M162T|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000405236.2_Missense_Mutation_p.M330T	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1						FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCATGGATGGGCCCCTTC	0.507																																						ENST00000405236.2																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(988-990)aTg>aCg		flavin adenine dinucleotide synthetase 1							63.0	59.0	60.0					1																	154965110		876	1991	2867	SO:0001627	intron_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154965110T>C		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1555-79T>C	1.37:g.154965110T>C						FLAD1_ENST00000295530.2_Missense_Mutation_p.M162T|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron	p.M330T			Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	989	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		0					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.989T>C	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653985	0.29425	.	.	ENSG00000160688	ENST00000405236;ENST00000295530	.	.	.	4.56	-8.33	0.00992	.	.	.	.	.	T	0.09862	0.0242	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	7	0.87932	D	0	.	5.7494	0.18138	0.1052:0.4993:0.1071:0.2884	.	162	Q5T191	.	T	330;162	.	ENSP00000295530:M162T	M	+	2	0	FLAD1	153231734	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-0.138000	0.10374	-1.766000	0.01302	0.334000	0.21626	ATG		0.507	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		22	30	0	0	0	1	0	22	30				
C8orf33	65265	broad.mit.edu	37	8	146278468	146278468	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:146278468A>T	ENST00000331434.6	+	3	453	c.339A>T	c.(337-339)gaA>gaT	p.E113D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	113										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TGGCCCAGGAATTGGCTTGGT	0.597																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(337-339)gaA>gaT		chromosome 8 open reading frame 33							73.0	76.0	75.0					8																	146278468		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146278468A>T		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.339A>T	8.37:g.146278468A>T	ENSP00000330361:p.Glu113Asp						p.E113D	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	3	453	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		113					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.339A>T	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	16.46	3.129412	0.56721	.	.	ENSG00000182307	ENST00000331434	.	.	.	3.94	-0.273	0.12915	.	0.259998	0.36628	N	0.002499	T	0.70307	0.3209	M	0.82323	2.585	0.45634	D	0.998569	D	0.67145	0.996	D	0.75484	0.986	T	0.67086	-0.5759	8	.	.	.	-16.8884	5.944	0.19209	0.5113:0.0:0.4887:0.0	.	113	Q9H7E9	CH033_HUMAN	D	113	.	.	E	+	3	2	C8orf33	146249272	0.986000	0.35501	0.993000	0.49108	0.136000	0.21042	-0.293000	0.08320	0.096000	0.17463	0.482000	0.46254	GAA		0.597	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		14	31	0	0	0	1	0	14	31				
FAM71F1	84691	broad.mit.edu	37	7	128369970	128369970	+	Missense_Mutation	SNP	C	C	T	rs371672698		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:128369970C>T	ENST00000315184.5	+	6	921	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	290										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGATTCTTCCCGTGAAGACAG	0.527																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(868-870)Cgt>Tgt		family with sequence similarity 71, member F1							119.0	107.0	111.0					7																	128369970		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128369970C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.868C>T	7.37:g.128369970C>T	ENSP00000326652:p.Arg290Cys					FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	p.R290C	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			6	921	+			290					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.868C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	6.809	0.518390	0.13005	.	.	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.24723	1.84;3.22	4.12	-8.24	0.01029	.	2.557810	0.01386	N	0.013085	T	0.07954	0.0199	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23583	-1.0184	10	0.52906	T	0.07	17.3433	1.9105	0.03286	0.1524:0.3883:0.2383:0.221	.	288;290;189	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	C	189;290	ENSP00000418192:R189C;ENSP00000326652:R290C	ENSP00000326652:R290C	R	+	1	0	FAM71F1	128157206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.184000	0.03076	-1.786000	0.01269	-1.693000	0.00726	CGT		0.527	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		5	131	0	0	0	1	0	5	131				
THBS3	7059	broad.mit.edu	37	1	155171215	155171215	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:155171215G>T	ENST00000368378.3	-	11	1342	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	441	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCTGGCAGGACACTGCACC	0.612																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1321-1323)tCc>tAc		thrombospondin 3							95.0	101.0	99.0					1																	155171215		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155171215G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1322C>A	1.37:g.155171215G>T	ENSP00000357362:p.Ser441Tyr					RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Missense_Mutation_p.S291Y|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|RP11-263K19.4_ENST00000430312.1_RNA	p.S441Y	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1342	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		441			EGF-like 4.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1322C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917793	0.73098	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;T	0.82344	-1.53;-1.6;-1.12	4.71	4.71	0.59529	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.130416	0.52532	D	0.000077	T	0.81273	0.4788	M	0.76328	2.33	0.39878	D	0.973601	P;P;P;P	0.51933	0.949;0.949;0.949;0.949	P;P;B;P	0.46940	0.527;0.532;0.43;0.532	D	0.84939	0.0864	10	0.87932	D	0	-20.5026	13.3465	0.60575	0.0:0.0:1.0:0.0	.	321;441;441;441	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	Y	441;321;291	ENSP00000357362:S441Y;ENSP00000392207:S321Y;ENSP00000404040:S291Y	ENSP00000357362:S441Y	S	-	2	0	THBS3	153437839	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	2.655000	0.46707	2.618000	0.88619	0.591000	0.81541	TCC		0.612	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		6	91	1	0	0.217242	1	0.217242	6	91				
SMARCC2	6601	broad.mit.edu	37	12	56558274	56558274	+	Silent	SNP	C	C	T	rs142435936		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:56558274C>T	ENST00000267064.4	-	27	3467	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Silent_p.P1158P|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1127	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGAGAGTGCCCGGGGCGAACG	0.592																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3472-3474)ccG>ccA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2		C	,,	0,4406		0,0,2203	84.0	76.0	79.0		,3381,	5.3	1.0	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,1127/1215,	56558274	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558274C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3381G>A	12.37:g.56558274C>T						SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Silent_p.P1127P	p.P1158P			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3488	-			1127			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.3474G>A	CCDS8907.1																																																																																				0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	79	0	0	0	1	0	7	79				
LPHN2	23266	broad.mit.edu	37	1	82456565	82456565	+	Silent	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:82456565T>C	ENST00000370728.1	+	25	4761	c.4116T>C	c.(4114-4116)taT>taC	p.Y1372Y	LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Silent_p.Y1387Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y			O95490	LPHN2_HUMAN	latrophilin 2	1372					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCTCTTTATACAAGCATGC	0.512																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(4114-4116)taT>taC		latrophilin 2							87.0	85.0	85.0					1																	82456565		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456565T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4116T>C	1.37:g.82456565T>C						LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000370725.1_Silent_p.Y1387Y	p.Y1372Y			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	25	4761	+			1372					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.4116T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.266|0.266	-0.995936|-0.995936	0.02145|0.02145	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328	.|T	.|0.52057	.|0.68	5.25|5.25	-8.99|-8.99	0.00751|0.00751	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.44265|0.44265	0.1285|0.1285	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73636|0.73636	-0.3920|-0.3920	4|7	.|0.87932	.|D	.|0	.|.	15.8542|15.8542	0.78965|0.78965	0.0:0.3377:0.0:0.6623|0.0:0.3377:0.0:0.6623	.|.	.|.	.|.	.|.	T|H	1264|384	.|ENSP00000385853:Y384H	.|ENSP00000385853:Y384H	I|Y	+|+	2|1	0|0	LPHN2|LPHN2	82229153|82229153	0.988000|0.988000	0.35896|0.35896	0.001000|0.001000	0.08648|0.08648	0.855000|0.855000	0.48748|0.48748	0.300000|0.300000	0.19156|0.19156	-2.443000|-2.443000	0.00548|0.00548	-2.109000|-2.109000	0.00356|0.00356	ATA|TAC		0.512	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		22	43	0	0	0	1	0	22	43				
ZAN	7455	broad.mit.edu	37	7	100364638	100364638	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100364638G>A	ENST00000348028.3	+	0	4783				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGGTGCCGCCACCTGCAC	0.607																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							83.0	88.0	86.0					7																	100364638		2173	4277	6450			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364638G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364638G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4766	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	27.1	4.798576	0.90538	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.25414	2.31;2.31;2.27;1.8	4.44	3.53	0.40419	von Willebrand factor, type D domain (1);	0.916883	0.08970	N	0.867310	T	0.37237	0.0996	M	0.76574	2.34	0.18873	N	0.999989	D;D	0.57899	0.981;0.968	P;B	0.47044	0.535;0.334	T	0.23332	-1.0191	10	0.66056	D	0.02	.	10.2566	0.43401	0.0:0.0:0.8014:0.1986	.	1540;1540	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	1540;1540;1540;117	ENSP00000445943:A1540T;ENSP00000445091:A1540T;ENSP00000444427:A1540T;ENSP00000441117:A117T	ENSP00000423579:A1540T	A	+	1	0	ZAN	100202574	0.004000	0.15560	0.190000	0.23270	0.086000	0.17979	0.478000	0.22212	1.150000	0.42419	0.556000	0.70494	GCC		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		35	122	0	0	0	1	0	35	122				
FGD1	2245	broad.mit.edu	37	X	54475673	54475673	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:54475673G>A	ENST00000375135.3	-	15	2910	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGATGGGCGTAGGTGCCCG	0.607																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2176-2178)aCg>aTg		FYVE, RhoGEF and PH domain containing 1							83.0	62.0	69.0					X																	54475673		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54475673G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2177C>T	X.37:g.54475673G>A	ENSP00000364277:p.Thr726Met						p.T726M	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			15	2910	-			726					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2177C>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345124	0.61073	.	.	ENSG00000102302	ENST00000375135	T	0.67171	-0.25	5.0	5.0	0.66597	Zinc finger, FYVE-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.53938	D	0.000046	T	0.74344	0.3704	L	0.39898	1.24	0.42488	D	0.992882	D;D	0.71674	0.996;0.998	P;D	0.67725	0.829;0.953	T	0.75368	-0.3342	10	0.45353	T	0.12	-16.0192	16.3994	0.83633	0.0:0.0:1.0:0.0	.	484;726	B4DS99;P98174	.;FGD1_HUMAN	M	726	ENSP00000364277:T726M	ENSP00000364277:T726M	T	-	2	0	FGD1	54492398	0.980000	0.34600	0.987000	0.45799	0.935000	0.57460	3.162000	0.50755	2.214000	0.71695	0.513000	0.50165	ACG		0.607	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		5	18	0	0	0	1	0	5	18				
MYBL1	4603	broad.mit.edu	37	8	67485730	67485730	+	Silent	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:67485730T>C	ENST00000522677.3	-	11	1892	c.1482A>G	c.(1480-1482)acA>acG	p.T494T	MYBL1_ENST00000524176.2_Silent_p.T494T|MYBL1_ENST00000517885.1_Silent_p.T152T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	494	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCAGGACATGTGTTGAAAA	0.323																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1480-1482)acA>acG		v-myb avian myeloblastosis viral oncogene homolog-like 1							81.0	77.0	78.0					8																	67485730		1811	4079	5890	SO:0001819	synonymous_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67485730T>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1482A>G	8.37:g.67485730T>C						MYBL1_ENST00000517885.1_Silent_p.T152T|MYBL1_ENST00000524176.2_Silent_p.T494T	p.T494T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		11	1892	-			494			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Silent	SNP	ENST00000522677.3	37	c.1482A>G	CCDS47867.1																																																																																				0.323	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		23	18	0	0	0	1	0	23	18				
DCAF12L2	340578	broad.mit.edu	37	X	125298906	125298906	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:125298906C>T	ENST00000360028.2	-	1	1028	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	DCAF12L2_ENST00000538699.1_Silent_p.P334P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334								p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGCGCTGGCGCGGATCCAGGA	0.622																																						ENST00000538699.1																			1	Substitution - coding silent(1)	p.P334P(1)	NS(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1000-1002)ccG>ccA		DDB1 and CUL4 associated factor 12-like 2							60.0	63.0	62.0					X																	125298906		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125298906C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1002G>A	X.37:g.125298906C>T						DCAF12L2_ENST00000360028.2_Silent_p.P334P	p.P334P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1082	-			334					B2RN42	Silent	SNP	ENST00000360028.2	37	c.1002G>A	CCDS43991.1																																																																																				0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		41	62	0	0	0	1	0	41	62				
AMOTL1	154810	broad.mit.edu	37	11	94532857	94532857	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:94532857G>A	ENST00000433060.2	+	3	642	c.501G>A	c.(499-501)gtG>gtA	p.V167V	AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	167					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AACACCAGGTGGACAATACGG	0.527																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(499-501)gtG>gtA		angiomotin like 1							59.0	64.0	63.0					11																	94532857		2159	4270	6429	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94532857G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.501G>A	11.37:g.94532857G>A						AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	642	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	167					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.501G>A	CCDS44712.1																																																																																				0.527	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		10	25	0	0	0	1	0	10	25				
TRBV5-4	28611	broad.mit.edu	37	7	142168912	142168912	+	RNA	SNP	A	A	G			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:142168912A>G	ENST00000454561.2	-	0	133									T cell receptor beta variable 5-4																		AGCCGAGTGAATTCTGGGCCT	0.582																																						ENST00000454561.2																			0																				13.0	18.0	17.0					7																	142168912		692	1591	2283			0							g.chr7:142168912A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168912A>G														0	133	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.582	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	21	0	0	0	1	0	4	21				
ADAMTS2	9509	broad.mit.edu	37	5	178541201	178541201	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:178541201G>A	ENST00000251582.7	-	22	3404	c.3303C>T	c.(3301-3303)aaC>aaT	p.N1101N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1101					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCCCTCCACGTTGGTGAGGT	0.547																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3301-3303)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							145.0	109.0	122.0					5																	178541201		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541201G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3303C>T	5.37:g.178541201G>A							p.N1101N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3404	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1101						Silent	SNP	ENST00000251582.7	37	c.3303C>T	CCDS4444.1																																																																																				0.547	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	38	0	0	0	1	0	4	38				
CAMKMT	79823	broad.mit.edu	37	2	44931420	44931420	+	Splice_Site	SNP	A	A	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:44931420A>C	ENST00000378494.3	+	4	420		c.e4-1			NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						TGTGTTTTCTAGGCATCTGGC	0.348																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.e4-1		calmodulin-lysine N-methyltransferase							116.0	111.0	113.0					2																	44931420		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44931420A>C		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.377-1A>C	2.37:g.44931420A>C								NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			4	420	+								Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37		CCDS1820.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565390	0.65651	.	.	ENSG00000143919	ENST00000378494	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7449	0.69483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMKMT	44784924	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.992000	0.88273	1.948000	0.56530	0.477000	0.44152	.		0.348	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Intron	11	70	0	0	0	1	0	11	70				
CCT6P3	643180	broad.mit.edu	37	7	64531401	64531401	+	RNA	SNP	C	C	T	rs184482762	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:64531401C>T	ENST00000426828.1	+	0	1209				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TTTGCTGATGCGTTGCTCGTT	0.438																																						ENST00000426828.1																			0																																																			0							g.chr7:64531401C>T			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64531401C>T								NR_033416.1						0	1209	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.438	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	41	0	0	0	1	0	4	41				
TLL1	7092	broad.mit.edu	37	4	166924714	166924714	+	Silent	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr4:166924714C>A	ENST00000061240.2	+	6	1451	c.804C>A	c.(802-804)atC>atA	p.I268I	TLL1_ENST00000513213.1_Silent_p.I268I|TLL1_ENST00000507499.1_Silent_p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	268	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGAAAACATCCAGCCAGGTG	0.383																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(802-804)atC>atA		tolloid-like 1							136.0	125.0	128.0					4																	166924714		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166924714C>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.804C>A	4.37:g.166924714C>A						TLL1_ENST00000507499.1_Silent_p.I268I|TLL1_ENST00000513213.1_Silent_p.I268I	p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	6	1451	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	268			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.804C>A	CCDS3811.1																																																																																				0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			21	36	1	0	5.26018e-13	1	6.33368e-13	21	36				
OR2D2	120776	broad.mit.edu	37	11	6913253	6913253	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:6913253G>C	ENST00000299459.2	-	1	577	c.479C>G	c.(478-480)aCc>aGc	p.T160S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	160					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGAAGGTGGTGTCTACCAC	0.502																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(478-480)aCc>aGc		olfactory receptor, family 2, subfamily D, member 2							122.0	92.0	102.0					11																	6913253		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913253G>C	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.479C>G	11.37:g.6913253G>C	ENSP00000299459:p.Thr160Ser						p.T160S	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	577	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	160					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.479C>G	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648276	0.29336	.	.	ENSG00000166368	ENST00000299459	T	0.00258	8.41	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.409461	0.20813	N	0.085208	T	0.00178	0.0005	L	0.59967	1.855	0.23862	N	0.996632	B	0.23591	0.088	B	0.25506	0.061	T	0.42666	-0.9438	10	0.14252	T	0.57	-11.1918	9.7915	0.40708	0.0915:0.0:0.9085:0.0	.	160	Q9H210	OR2D2_HUMAN	S	160	ENSP00000299459:T160S	ENSP00000299459:T160S	T	-	2	0	OR2D2	6869829	0.009000	0.17119	0.984000	0.44739	0.980000	0.70556	1.616000	0.36933	2.840000	0.97914	0.645000	0.84053	ACC		0.502	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		25	22	0	0	0	1	0	25	22				
LRP2	4036	broad.mit.edu	37	2	170097528	170097528	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:170097528G>T	ENST00000263816.3	-	25	4300	c.4015C>A	c.(4015-4017)Ccc>Acc	p.P1339T	LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1339	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTCCCATTGGGGCAGTCAAAG	0.488																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4015-4017)Ccc>Acc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						128.0	110.0	116.0					2																	170097528		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170097528G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4015C>A	2.37:g.170097528G>T	ENSP00000263816:p.Pro1339Thr					LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	p.P1339T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	25	4300	-			1339			LDL-receptor class A 15.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4015C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704476	0.88924	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95272	-2.41;-3.66	6.02	6.02	0.97574	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97363	0.9971	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	1202;1339	E9PC35;P98164	.;LRP2_HUMAN	T	1339;1202	ENSP00000263816:P1339T;ENSP00000409813:P1202T	ENSP00000263816:P1339T	P	-	1	0	LRP2	169805774	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.807000	0.99171	2.857000	0.98124	0.650000	0.86243	CCC		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	60	1	0	0.00024832	1	0.000271313	4	60				
TRAV3	28690	broad.mit.edu	37	14	22192561	22192561	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:22192561G>A	ENST00000390425.2	+	0	512									T cell receptor alpha variable 3 (gene/pseudogene)																		TCTGTGCTGTGAGAGACACAC	0.478																																						ENST00000390425.2																			0																				36.0	36.0	36.0					14																	22192561		2055	4199	6254			0							g.chr14:22192561G>A	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192561G>A														0	512	+									RNA	SNP	ENST00000390425.2	37																																																																																						0.478	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		5	21	0	0	0	1	0	5	21				
ZNF234	10780	broad.mit.edu	37	19	44660574	44660574	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:44660574G>A	ENST00000426739.2	+	6	663	c.405G>A	c.(403-405)agG>agA	p.R135R	ZNF234_ENST00000592437.1_Silent_p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	135	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCAGGTTAGGGCAGGACTAT	0.378																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(403-405)agG>agA		zinc finger protein 234							53.0	55.0	54.0					19																	44660574		2061	4218	6279	SO:0001819	synonymous_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660574G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.405G>A	19.37:g.44660574G>A						ZNF234_ENST00000592437.1_Silent_p.R135R	p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	663	+		Prostate(69;0.0435)	135			KRNB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	c.405G>A	CCDS46101.1																																																																																				0.378	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			20	44	0	0	0	1	0	20	44				
SSPO	23145	broad.mit.edu	37	7	149513538	149513538	+	RNA	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:149513538C>T	ENST00000378016.2	+	0	11159							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACGTCACGCAGCAGGTG	0.692																																						ENST00000378016.2																			0													SCO-spondin							10.0	15.0	13.0					7																	149513538		2019	4136	6155			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149513538C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149513538C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11159	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	2	0	0	0	1	0	5	2				
MYLK4	340156	broad.mit.edu	37	6	2678591	2678591	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr6:2678591C>T	ENST00000274643.7	-	10	1245	c.903G>A	c.(901-903)tcG>tcA	p.S301S	MYLK4_ENST00000268446.5_Silent_p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CCAGGAAAGGCGACAAACCGC	0.498																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(901-903)tcG>tcA		myosin light chain kinase family, member 4							105.0	93.0	97.0					6																	2678591		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2678591C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.903G>A	6.37:g.2678591C>T						MYLK4_ENST00000268446.5_Silent_p.S301S	p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			10	1245	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	301			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.903G>A	CCDS34330.1																																																																																				0.498	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		4	118	0	0	0	1	0	4	118				
WSCD2	9671	broad.mit.edu	37	12	108589876	108589876	+	Silent	SNP	C	C	T	rs375207995		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:108589876C>T	ENST00000332082.4	+	3	1085	c.267C>T	c.(265-267)taC>taT	p.Y89Y	WSCD2_ENST00000547525.1_Silent_p.Y89Y|WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000261400.3_Silent_p.Y89Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	89						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCGCAGGTACGGACCCTGGT	0.612																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(265-267)taC>taT		WSC domain containing 2		C		0,4124		0,0,2062	112.0	112.0	112.0		267	-1.1	1.0	12		112	3,8391		0,3,4194	no	coding-synonymous	WSCD2	NM_014653.2		0,3,6256	TT,TC,CC		0.0357,0.0,0.024		89/566	108589876	3,12515	2062	4197	6259	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589876C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.267C>T	12.37:g.108589876C>T						WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000547525.1_Silent_p.Y89Y|WSCD2_ENST00000261400.3_Silent_p.Y89Y	p.Y89Y			Q2TBF2	WSCD2_HUMAN			3	1085	+			89					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.267C>T	CCDS41828.1																																																																																				0.612	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		34	68	0	0	0	1	0	34	68				
EVI5	7813	broad.mit.edu	37	1	92979278	92979278	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:92979278T>C	ENST00000370331.1	-	18	2377	c.2368A>G	c.(2368-2370)Agc>Ggc	p.S790G	EVI5_ENST00000543509.1_Missense_Mutation_p.S801G|EVI5_ENST00000540033.1_Missense_Mutation_p.S790G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	790	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTGGTTGCTCTCTCTGGTC	0.488																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2368-2370)Agc>Ggc		ecotropic viral integration site 5							136.0	137.0	137.0					1																	92979278		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979278T>C	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2368A>G	1.37:g.92979278T>C	ENSP00000359356:p.Ser790Gly					EVI5_ENST00000540033.1_Missense_Mutation_p.S790G|EVI5_ENST00000543509.1_Missense_Mutation_p.S801G	p.S790G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2377	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	790			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.2368A>G	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	4.919	0.170801	0.09391	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.06142	3.34;3.34;3.34	5.72	0.626	0.17670	.	0.873016	0.10234	N	0.699227	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48747	-0.9008	10	0.45353	T	0.12	3.3688	1.171	0.01826	0.1442:0.1538:0.2649:0.4371	.	801;790	F5H4R0;O60447	.;EVI5_HUMAN	G	790;790;801	ENSP00000359356:S790G;ENSP00000440826:S790G;ENSP00000445019:S801G	ENSP00000359356:S790G	S	-	1	0	EVI5	92751866	0.000000	0.05858	0.043000	0.18650	0.009000	0.06853	-0.192000	0.09587	-0.139000	0.11414	-0.323000	0.08544	AGC		0.488	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		57	112	0	0	0	1	0	57	112				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			3	3						3	3	---	---	---	---
ARL4A	10124	broad.mit.edu	37	7	12728279	12728282	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:12728279_12728282delAACA	ENST00000396663.1	+	2	882_885	c.400_403delAACA	c.(400-405)aacaaafs	p.NK134fs	ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	134					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TATAGTTGCTAACAAACAAGATTT	0.402																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(400-405)aafs		ADP-ribosylation factor-like 4A																																				SO:0001589	frameshift_variant	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728279_12728282delAACA	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.400_403delAACA	7.37:g.12728283_12728286delAACA	ENSP00000379898:p.Asn134fs					ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs	p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	882_885	+			134					A4D119|P80418|Q49AF5	Frame_Shift_Del	DEL	ENST00000396663.1	37	c.400_403delAACA	CCDS5359.1																																																																																				0.402	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		17	74						17	74	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs71464128	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													GGGGG|GGGG|GGGGG|deletion	644	0.128594	0.348	0.0879	5008	,	,		7216	0.002		0.0895	False		,,,				2504	0.0317					ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e6-2		mucin 6, oligomeric mucus/gel-forming				1070,2502		189,692,905						2.3	0.8		dbSNP_130	29	606,7194		45,516,3339	no	splice-3	MUC6	NM_005961.2		234,1208,4244	A1A1,A1R,RR		7.7692,29.9552,14.738				1676,9696				SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031058_1031059insG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.575-2->C	11.37:g.1031062_1031062dupG								NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	625	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	INS	ENST00000421673.2	37		CCDS44513.1																																																																																				0.703	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	3	6						3	6	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	8	17						8	17	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12870948	12870948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:12870948delA	ENST00000228872.4	+	1	891	c.175delA	c.(175-177)aagfs	p.K59fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGCCAGCGCAAGTGGAATTT	0.577																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(175-177)agfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							88.0	99.0	95.0					12																	12870948		2203	4300	6503	SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870948delA	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.175delA	12.37:g.12870948delA	ENSP00000228872:p.Lys59fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs	p.K59fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	891	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	59					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Del	DEL	ENST00000228872.4	37	c.175delA	CCDS8653.1																																																																																				0.577	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		65	77						65	77	---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36909272delA	ENST00000451493.1	-	2	913	c.696delT	c.(694-696)tttfs	p.F232fs	SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	232					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGGATTTACAAAAAAAATCT	0.433																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(694-696)ttfs		spastic paraplegia 20 (Troyer syndrome)							65.0	68.0	67.0					13																	36909272		2203	4300	6503	SO:0001589	frameshift_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909272delA	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.696delT	13.37:g.36909272delA	ENSP00000414147:p.Phe232fs					SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs	p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	913	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	232					O60349|Q86Y67|Q9H1T2|Q9H1T3	Frame_Shift_Del	DEL	ENST00000451493.1	37	c.696delT	CCDS9356.1																																																																																				0.433	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			32	60						32	60	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577093	7577113	+	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	CGGTCTCTCCCAGGACAGGCA	-	rs28934574|rs17849781|rs121912660|rs587781525		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENST00000269305.4	-	8	1014_1034	c.825_845delTGCCTGTCCTGGGAGAGACCG	c.(823-846)tgtgcctgtcctgggagagaccgg>tgg	p.275_282CACPGRDR>W	TP53_ENST00000420246.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000455263.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000359597.4_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		1227	Substitution - Missense(1110)|Deletion - Frameshift(27)|Substitution - coding silent(25)|Substitution - Nonsense(17)|Deletion - In frame(13)|Insertion - Frameshift(12)|Whole gene deletion(8)|Complex - frameshift(5)|Insertion - In frame(4)|Unknown(2)|Complex - insertion inframe(2)|Complex - compound substitution(2)	p.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(1)	large_intestine(205)|lung(135)|upper_aerodigestive_tract(118)|urinary_tract(108)|breast(102)|oesophagus(93)|skin(72)|haematopoietic_and_lymphoid_tissue(72)|ovary(63)|central_nervous_system(56)|stomach(56)|liver(28)|biliary_tract(16)|pancreas(16)|kidney(14)|bone(14)|prostate(13)|endometrium(11)|soft_tissue(7)|vulva(6)|peritoneum(5)|thymus(4)|thyroid(3)|autonomic_ganglia(2)|NS(2)|cervix(1)|eye(1)|genital_tract(1)|vagina(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD963012|CM004343|CM004344|CM011015|CM052927|CM056068|CM056413|CM065496|CM076566|CM920678|CM961376|CM993218	TP53	D|M	rs121912660|rs17849781|rs28934574	c.(823-846)tgg>tg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.825_845delTGCCTGTCCTGGGAGAGACCG	17.37:g.7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENSP00000269305:p.Cys275_Arg282delinsTrp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000455263.2_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000445888.2_In_Frame_Del_p.CACPGRDR275del	p.CACPGRDR275del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	957_977	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.825_845delTGCCTGTCCTGGGAGAGACCG	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	16						17	16	---	---	---	---
SERHL2	253190	broad.mit.edu	37	22	42971787	42971788	+	IGR	DEL	CA	CA	-	rs560133060	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr22:42971787_42971788delCA	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						GGCCTCTTTCCACAGAGTCTGG	0.663														3	0.000599042	0.0023	0.0	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.0					ENST00000357802.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr22:42971787_42971788delCA		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971789_42971790delCA														0	784	-								Q5JZ95|Q9UH21	RNA	DEL	ENST00000327678.5	37		CCDS14037.1																																																																																				0.663	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		4	6						4	6	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938929	76938929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:76938929delC	ENST00000373344.5	-	9	2033	c.1819delG	c.(1819-1821)gaafs	p.E607fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	607					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTGGAACTTCCTGACAATCA	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1819-1821)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						197.0	223.0	214.0					X																	76938929		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938929delC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1819delG	X.37:g.76938929delC	ENSP00000362441:p.Glu607fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs|ATRX_ENST00000480283.1_5'UTR	p.E607fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2033	-			607					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1819delG	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		173	330						173	330	---	---	---	---
